ID   CFTR_HUMAN              Reviewed;        1480 AA.
AC   P13569; Q20BG8; Q20BH2; Q2I0A1; Q2I102;
DT   01-JAN-1990, integrated into UniProtKB/Swiss-Prot.
DT   15-MAY-2007, sequence version 3.
DT   10-JUN-2008, entry version 125.
DE   Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-
DE   dependent chloride channel) (ATP-binding cassette transporter sub-
DE   family C member 7).
GN   Name=CFTR; Synonyms=ABCC7;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT MET-470.
RX   MEDLINE=89368940; PubMed=2475911;
RA   Riordan J.R., Rommens J.M., Kerem B., Alon N., Rozmahel R.,
RA   Grzelczak Z., Zielenski J., Lok S., Plavsic N., Chou J.-L.,
RA   Drumm M.L., Iannuzzi M.C., Collins F.S., Tsui L.-C.;
RT   "Identification of the cystic fibrosis gene: cloning and
RT   characterization of complementary DNA.";
RL   Science 245:1066-1073(1989).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT MET-470.
RX   MEDLINE=91257831; PubMed=1710598; DOI=10.1016/0888-7543(91)90503-7;
RA   Zielenski J., Rozmahel R., Bozon D., Kerem B., Grzelczak Z.,
RA   Riordan J.R., Rommens J., Tsui L.-C.;
RT   "Genomic DNA sequence of the cystic fibrosis transmembrane conductance
RT   regulator (CFTR) gene.";
RL   Genomics 10:214-228(1991).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT MET-470.
RA   Stacy R., Subramanian S., Deodato C., Burkhardt P., Song Y.,
RA   Paddock M., Chang J., Zhou Y., Haugen E., Waring D., Chapman P.,
RA   Hayden H., Levy R., Wu Z., Rouse G., James R., Phelps K., Olson M.V.,
RA   Kaul R.;
RL   Submitted (JAN-2006) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=22737999; PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
RA   Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
RA   Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
RA   Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
RA   Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
RA   Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
RA   Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
RA   Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
RA   Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
RA   Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
RA   Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
RA   Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
RA   Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
RA   Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
RA   Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
RA   Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
RA   Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
RA   Waterston R.H., Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=22616434; PubMed=12690205; DOI=10.1126/science.1083423;
RA   Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA   Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA   Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA   Kanematsu E., Gentles S., Christopoulos C.C., Choufani S.,
RA   Kwasnicka D., Zheng X.H., Lai Z., Nusskern D., Zhang Q., Gu Z., Lu F.,
RA   Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C.,
RA   Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J.,
RA   Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F.,
RA   Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F.,
RA   Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H.,
RA   Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G.,
RA   Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P.,
RA   Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J.,
RA   Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F.,
RA   Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B.,
RA   Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA   Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W.,
RA   Mural R.J., Adams M.D., Tsui L.-C.;
RT   "Human chromosome 7: DNA sequence and biology.";
RL   Science 300:767-772(2003).
RN   [6]
RP   PHOSPHORYLATION AT SER-660; SER-686; SER-700; SER-737; SER-768;
RP   SER-790; SER-795 AND SER-813.
RX   MEDLINE=92316961; PubMed=1377674;
RA   Picciotto M.R., Cohn J.A., Bertuzzi G., Greenguard P., Nairn A.C.;
RT   "Phosphorylation of the cystic fibrosis transmembrane conductance
RT   regulator.";
RL   J. Biol. Chem. 267:12742-12752(1992).
RN   [7]
RP   GLYCOSYLATION AT ASN-894 AND ASN-900, AND TOPOLOGY.
RX   PubMed=7518437;
RA   Chang X.-B., Hou Y.-X., Jensen T.J., Riordan J.R.;
RT   "Mapping of cystic fibrosis transmembrane conductance regulator
RT   membrane topology by glycosylation site insertion.";
RL   J. Biol. Chem. 269:18572-18575(1994).
RN   [8]
RP   PHOSPHORYLATION AT SER-660; SER-700; SER-712; SER-737; SER-753;
RP   SER-768; SER-795 AND SER-813.
RX   MEDLINE=98046756; PubMed=9385646;
RA   Neville D.C.A., Rozanas C.R., Rice E.M., Gruis D.B., Verkman A.S.,
RA   Townsend R.R.;
RT   "Evidence for phosphorylation of serine 753 in CFTR using a novel
RT   metal-ion affinity resin and matrix-assisted laser desorption mass
RT   spectrometry.";
RL   Protein Sci. 6:2436-2445(1997).
RN   [9]
RP   ALTERNATIVE SPLICING (ISOFORM 2).
RX   PubMed=10766763; DOI=10.1074/jbc.M910165199;
RA   Pagani F., Buratti E., Stuani C., Romano M., Zuccato E., Niksic M.,
RA   Giglio L., Faraguna D., Baralle F.E.;
RT   "Splicing factors induce cystic fibrosis transmembrane regulator exon
RT   9 skipping through a nonevolutionary conserved intronic element.";
RL   J. Biol. Chem. 275:21041-21047(2000).
RN   [10]
RP   INTERACTION WITH GOPC.
RX   MEDLINE=21671338; PubMed=11707463; DOI=10.1074/jbc.M110177200;
RA   Cheng J., Moyer B.D., Milewski M., Loffing J., Ikeda M., Mickle J.E.,
RA   Cutting G.R., Li M., Stanton B.A., Guggino W.B.;
RT   "A Golgi-associated PDZ domain protein modulates cystic fibrosis
RT   transmembrane regulator plasma membrane expression.";
RL   J. Biol. Chem. 277:3520-3529(2002).
RN   [11]
RP   INTERACTION WITH SC4A7 AND SLC9A3R1.
RX   PubMed=12403779; DOI=10.1074/jbc.M201862200;
RA   Park M., Ko S.B.H., Choi J.Y., Muallem G., Thomas P.J., Pushkin A.,
RA   Lee M.-S., Kim J.Y., Lee M.G., Muallem S., Kurtz I.;
RT   "The cystic fibrosis transmembrane conductance regulator interacts
RT   with and regulates the activity of the HCO3- salvage transporter human
RT   Na+-HCO3-cotransport isoform 3.";
RL   J. Biol. Chem. 277:50503-50509(2002).
RN   [12]
RP   INTERACTION WITH MYO6.
RX   PubMed=15247260; DOI=10.1074/jbc.M403141200;
RA   Swiatecka-Urban A., Boyd C., Coutermarsh B., Karlson K.H., Barnaby R.,
RA   Aschenbrenner L., Langford G.M., Hasson T., Stanton B.A.;
RT   "Myosin VI regulates endocytosis of the cystic fibrosis transmembrane
RT   conductance regulator.";
RL   J. Biol. Chem. 279:38025-38031(2004).
RN   [13]
RP   REVIEW.
RX   MEDLINE=92339790; PubMed=1378801;
RA   McIntosh I., Cutting G.R.;
RT   "Cystic fibrosis transmembrane conductance regulator and the etiology
RT   and pathogenesis of cystic fibrosis.";
RL   FASEB J. 6:2775-2782(1992).
RN   [14]
RP   ALTERNATIVE SPLICING (ISOFORM 3).
RX   PubMed=12913074; DOI=10.1093/hmg/ddg215;
RA   Aznarez I., Chan E.M., Zielenski J., Blencowe B.J., Tsui L.-C.;
RT   "Characterization of disease-associated mutations affecting an exonic
RT   splicing enhancer and two cryptic splice sites in exon 13 of the
RT   cystic fibrosis transmembrane conductance regulator gene.";
RL   Hum. Mol. Genet. 12:2031-2040(2003).
RN   [15]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-515, AND MASS
RP   SPECTROMETRY.
RX   PubMed=17053785; DOI=10.1038/sj.emboj.7601384;
RA   Wang Y., Du D., Fang L., Yang G., Zhang C., Zeng R., Ullrich A.,
RA   Lottspeich F., Chen Z.;
RT   "Tyrosine phosphorylated Par3 regulates epithelial tight junction
RT   assembly promoted by EGFR signaling.";
RL   EMBO J. 25:5058-5070(2006).
RN   [16]
RP   3D-STRUCTURE MODELING OF 425-638.
RX   MEDLINE=98176720; PubMed=9517543;
RX   DOI=10.1002/(SICI)1097-0134(19980215)30:3<275::AID-PROT7>3.3.CO;2-L;
RA   Hoedemaeker F.J., Davidson A.R., Rose D.R.;
RT   "A model for the nucleotide-binding domains of ABC transporters based
RT   on the large domain of aspartate aminotransferase.";
RL   Proteins 30:275-286(1998).
RN   [17]
RP   X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 1476-1480 IN COMPLEX WITH
RP   SLC9A3R1.
RX   MEDLINE=21283011; PubMed=11304524; DOI=10.1074/jbc.C100154200;
RA   Karthikeyan S., Leung T., Ladias J.A.A.;
RT   "Structural basis of the Na+/H+ exchanger regulatory factor PDZ1
RT   interaction with the carboxyl-terminal region of the cystic fibrosis
RT   transmembrane conductance regulator.";
RL   J. Biol. Chem. 276:19683-19686(2001).
RN   [18]
RP   REVIEW ON VARIANTS.
RX   MEDLINE=93250808; PubMed=1284534;
RA   Tsui L.-C.;
RT   "Mutations and sequence variations detected in the cystic fibrosis
RT   transmembrane conductance regulator (CFTR) gene: a report from the
RT   Cystic Fibrosis Genetic Analysis Consortium.";
RL   Hum. Mutat. 1:197-203(1992).
RN   [19]
RP   VARIANTS CF.
RX   MEDLINE=90326187; PubMed=1695717; DOI=10.1038/346366a0;
RA   Cutting G.R., Kasch L.M., Rosenstein B.J., Zielenski J., Tsui L.-C.,
RA   Antonarakis S.E., Kazazian H.H. Jr.;
RT   "A cluster of cystic fibrosis mutations in the first nucleotide-
RT   binding fold of the cystic fibrosis conductance regulator protein.";
RL   Nature 346:366-369(1990).
RN   [20]
RP   VARIANTS CF.
RX   MEDLINE=91046014; PubMed=2236053;
RA   Kerem B.-S., Zielenski J., Markiewicz D., Bozon D., Gazit E.,
RA   Yahav J., Kennedy D., Riordan J.R., Collins F.S., Rommens J.M.,
RA   Tsui L.-C.;
RT   "Identification of mutations in regions corresponding to the two
RT   putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:8447-8451(1990).
RN   [21]
RP   VARIANTS CF.
RX   MEDLINE=91257839; PubMed=1710600; DOI=10.1016/0888-7543(91)90510-L;
RA   White M.B., Krueger L.J., Holsclaw D.S. Jr., Gerrard B.C., Stewart C.,
RA   Quittell L., Dolganov G., Baranov V., Ivaschenko T., Kapronov N.I.,
RA   Sebastio G., Castiglione O., Dean M.;
RT   "Detection of three rare frameshift mutations in the cystic fibrosis
RT   gene in an African-American (CF444delA), an Italian (CF2522insC), and
RT   a Soviet (CF3821delT).";
RL   Genomics 10:266-269(1991).
RN   [22]
RP   VARIANTS CF PHE-520 AND HIS-1291.
RX   MEDLINE=93244747; PubMed=1284466; DOI=10.1093/hmg/1.1.11;
RA   Jones C.T., McIntosh I., Keston M., Ferguson A., Brock D.J.H.;
RT   "Three novel mutations in the cystic fibrosis gene detected by
RT   chemical cleavage: analysis of variant splicing and a nonsense
RT   mutation.";
RL   Hum. Mol. Genet. 1:11-17(1992).
RN   [23]
RP   VARIANT CF MET-1283.
RX   MEDLINE=93244771; PubMed=1284468; DOI=10.1093/hmg/1.2.123;
RA   Cheadle J.P., Meredith A.L., Al-Jader L.N.;
RT   "A new missense mutation (R1283M) in exon 20 of the cystic fibrosis
RT   transmembrane conductance regulator gene.";
RL   Hum. Mol. Genet. 1:123-125(1992).
RN   [24]
RP   VARIANT CF PRO-1255.
RX   MEDLINE=93250788; PubMed=1284530; DOI=10.1093/hmg/1.6.441;
RA   Lissens W., Bonduelle M., Malfroot A., Dab I., Liebaers I.;
RT   "A serine to proline substitution (S1255P) in the second nucleotide
RT   binding fold of the cystic fibrosis gene.";
RL   Hum. Mol. Genet. 1:441-442(1992).
RN   [25]
RP   VARIANTS CF LYS-92 AND CYS-117.
RX   MEDLINE=93250787; PubMed=1284529; DOI=10.1093/hmg/1.6.439;
RA   Shackleton S., Beards F., Harris A.;
RT   "Detection of novel and rare mutations in exon 4 of the cystic
RT   fibrosis gene by SSCP.";
RL   Hum. Mol. Genet. 1:439-440(1992).
RN   [26]
RP   VARIANT CF LYS-1101.
RX   MEDLINE=93190992; PubMed=7680525;
RA   Zielenski J., Fugiwara T.M., Markiewicz D., Paradis A.J.,
RA   Anacleto A.I., Richards B., Schwartz R.H., Klinger K.W., Tsui L.-C.,
RA   Morgan K.;
RT   "Identification of the M1101K mutation in the cystic fibrosis
RT   transmembrane conductance regulator (CFTR) gene and complete detection
RT   of cystic fibrosis mutations in the Hutterite population.";
RL   Am. J. Hum. Genet. 52:609-615(1993).
RN   [27]
RP   VARIANTS CF VAL-1052; ARG-1061; LEU-1066; GLN-1070; ARG-1085 AND
RP   ARG-1101.
RX   MEDLINE=93252404; PubMed=7683628; DOI=10.1006/geno.1993.1183;
RA   Mercier B., Lissens W., Novelli G., Kalaydjieva L., De Arce M.,
RA   Kapranov N., Klain N.C., Lenoir G., Chauveau P., Lenaerts C.,
RA   Rault G., Cashman S., Sangiuolo F., Audrezet M.-P., Dallapiccola B.,
RA   Guillermit H., Bonduelle M., Liebaers I., Quere I., Verlingue C.,
RA   Ferec C.;
RT   "Identification of eight novel mutations in a collaborative analysis
RT   of a part of the second transmembrane domain of the CFTR gene.";
RL   Genomics 16:296-297(1993).
RN   [28]
RP   VARIANT CF LYS-92.
RX   MEDLINE=93258355; PubMed=7683954; DOI=10.1093/hmg/2.1.79;
RA   Nunes V., Chillon M., Doerk T., Tuemmler B., Casals T., Estivill X.;
RT   "A new missense mutation (E92K) in the first transmembrane domain of
RT   the CFTR gene causes a benign cystic fibrosis phenotype.";
RL   Hum. Mol. Genet. 2:79-80(1993).
RN   [29]
RP   VARIANT CF SER-205.
RX   MEDLINE=94093573; PubMed=7505694; DOI=10.1093/hmg/2.10.1741;
RA   Chillon M., Casals T., Nunes V., Gimenez J., Ruiz E.P., Estivill X.;
RT   "Identification of a new missense mutation (P205S) in the first
RT   transmembrane domain of the CFTR gene associated with a mild cystic
RT   fibrosis phenotype.";
RL   Hum. Mol. Genet. 2:1741-1742(1993).
RN   [30]
RP   VARIANTS CF.
RX   MEDLINE=94080255; PubMed=7504969;
RA   Gasparini P., Marigo C., Bisceglia G., Nicolis E., Zelante L.,
RA   Bombieri C., Borgo G., Pignatti P.F., Cabrini G.;
RT   "Screening of 62 mutations in a cohort of cystic fibrosis patients
RT   from north eastern Italy: their incidence and clinical features of
RT   defined genotypes.";
RL   Hum. Mutat. 2:389-394(1993).
RN   [31]
RP   VARIANTS CYS-31 AND ILE-1220, AND VARIANTS CF LEU-912; TYR-949;
RP   PRO-1065 AND PRO-1071.
RX   MEDLINE=94375072; PubMed=7522211; DOI=10.1006/geno.1994.1290;
RA   Ghaneb N., Costes B., Girodon E., Martin J., Fanen P., Goossens M.;
RT   "Identification of eight mutations and three sequence variations in
RT   the cystic fibrosis transmembrane conductance regulator (CFTR) gene.";
RL   Genomics 21:434-436(1994).
RN   [32]
RP   VARIANT CF PRO-346.
RX   MEDLINE=94222417; PubMed=7513296; DOI=10.1007/BF00202817;
RA   Boteva K., Papageorgiou E., Georgiou C., Angastiniotis M.,
RA   Middleton L.T., Constantinou-Deltas C.D.;
RT   "Novel cystic fibrosis mutation associated with mild disease in
RT   Cypriot patients.";
RL   Hum. Genet. 93:529-532(1994).
RN   [33]
RP   VARIANTS CF TYR-199; SER-619; ARG-1005 AND ARG-1291.
RX   MEDLINE=95048290; PubMed=7525450; DOI=10.1007/BF00211022;
RA   Doerk T., Mekus F., Schmidt K., Bosshammer J., Fislage R., Heuer T.,
RA   Dziadek V., Neumann T., Kaelin N., Wulbrand U., Wulf B.,
RA   von der Hardt H., Maass G., Tuemmler B.;
RT   "Detection of more than 50 different CFTR mutations in a large group
RT   of German cystic fibrosis patients.";
RL   Hum. Genet. 94:533-542(1994).
RN   [34]
RP   VARIANT CF GLU-1249.
RX   MEDLINE=94333927; PubMed=7520022;
RA   Greil I., Wagner K., Rosenkranz W.;
RT   "A new missense mutation G1249E in exon 20 of the cystic fibrosis
RT   transmembrane conductance regulator (CFTR) gene.";
RL   Hum. Hered. 44:238-240(1994).
RN   [35]
RP   VARIANT CF GLU-1397.
RX   MEDLINE=95038762; PubMed=7524913; DOI=10.1093/hmg/3.6.999;
RA   Petreska L., Koceva S., Gordova-Muratovska A., Nestorov R.,
RA   Efremov G.D.;
RT   "Identification of two new mutations (711 +3A-->G and V1397E) in CF
RT   chromosomes of Albanian and Macedonian origin.";
RL   Hum. Mol. Genet. 3:999-1000(1994).
RN   [36]
RP   VARIANT CF CYS-109.
RX   MEDLINE=95038714; PubMed=7524909; DOI=10.1093/hmg/3.6.1001;
RA   Schaedel C., Kristoffersson A.-C., Kornfaelt R., Holmberg L.;
RT   "A novel cystic fibrosis mutation, Y109C, in the first transmembrane
RT   domain of CFTR.";
RL   Hum. Mol. Genet. 3:1001-1002(1994).
RN   [37]
RP   VARIANT CF THR-120.
RX   MEDLINE=94290492; PubMed=7517264;
RA   Chillon M., Casals T., Gimenez J., Nunes V., Estivill X.;
RT   "Analysis of the CFTR gene in the Spanish population: SSCP-screening
RT   for 60 known mutations and identification of four new mutations (Q30X,
RT   A120T, 1812-1 G-->A, and 3667del4).";
RL   Hum. Mutat. 3:223-230(1994).
RN   [38]
RP   VARIANT CF LEU-87.
RX   MEDLINE=94362712; PubMed=8081395;
RA   Bienvenu T., Petitpretz P., Beldjord C., Kaplan J.C.;
RT   "A missense mutation (F87L) in exon 3 of the cystic fibrosis
RT   transmembrane conductance regulator gene.";
RL   Hum. Mutat. 3:395-396(1994).
RN   [39]
RP   VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800.
RX   MEDLINE=95126122; PubMed=7529962;
RA   Mercier B., Verlingue C., Lissens W., Silber S.J., Novelli G.,
RA   Bonduelle M., Audrezet M.-P., Ferec C.;
RT   "Is congenital bilateral absence of vas deferens a primary form of
RT   cystic fibrosis? Analyses of the CFTR gene in 67 patients.";
RL   Am. J. Hum. Genet. 56:272-277(1995).
RN   [40]
RP   VARIANTS CBAVD.
RX   MEDLINE=95285566; PubMed=7539342;
RA   Jezequel P., Dorval I., Fergelot P., Chauvel B., Le Treut A.,
RA   Le Gall J.-Y., Le Lannou D., Blayau M.;
RT   "Structural analysis of CFTR gene in congenital bilateral absence of
RT   vas deferens.";
RL   Clin. Chem. 41:833-835(1995).
RN   [41]
RP   VARIANTS CF GLY-57; LYS-193 AND GLY-579.
RX   MEDLINE=95377736; PubMed=7544319; DOI=10.1007/BF00210414;
RA   Brancolini V., Cremonesi L., Belloni E., Pappalardo E., Bordoni R.,
RA   Seia M., Russo S., Padoan R., Giunta A., Ferrari M.;
RT   "Search for mutations in pancreatic sufficient cystic fibrosis Italian
RT   patients: detection of 90% of molecular defects and identification of
RT   three novel mutations.";
RL   Hum. Genet. 96:312-318(1995).
RN   [42]
RP   VARIANT CF TRP-206.
RX   MEDLINE=96101900; PubMed=8522333; DOI=10.1007/BF00210305;
RA   Desgeorges M., Rodier M., Piot M., Demaille J., Claustres M.;
RT   "Four adult patients with the missense mutation L206W and a mild
RT   cystic fibrosis phenotype.";
RL   Hum. Genet. 96:717-720(1995).
RN   [43]
RP   VARIANTS CF LEU-31 AND ARG-1098.
RX   MEDLINE=95245339; PubMed=7537150;
RA   Zielenski J., Markiewicz D., Chen H.S., Schappert K., Seller A.,
RA   Durie P., Corey M., Tsui L.-C.;
RT   "Identification of six mutations (R31L, 441delA, 681delC, 1461ins4,
RT   W1089R, E1104X) in the cystic fibrosis transmembrane conductance
RT   regulator (CFTR) gene.";
RL   Hum. Mutat. 5:43-47(1995).
RN   [44]
RP   VARIANT CF ASN-572.
RX   MEDLINE=95322977; PubMed=7541273;
RA   Verlingue C., Kapranov N.I., Mercier B., Ginter E.K., Petrova N.V.,
RA   Audrezet M.P., Ferec C.;
RT   "Complete screening of mutations in the coding sequence of the CFTR
RT   gene in a sample of CF patients from Russia: identification of three
RT   novel alleles.";
RL   Hum. Mutat. 5:205-209(1995).
RN   [45]
RP   VARIANT CF ARG-98.
RX   MEDLINE=96047156; PubMed=7581407;
RA   Romey M.-C., Desgeorges M., Ray P., Godard P., Demaille J.,
RA   Claustres M.;
RT   "Novel missense mutation in the first transmembrane segment of the
RT   CFTR gene (Q98R) identified in a male adult.";
RL   Hum. Mutat. 6:190-191(1995).
RN   [46]
RP   VARIANT CF ILE-338.
RX   MEDLINE=95363605; PubMed=7543567; DOI=10.1016/S0022-3476(95)70310-1;
RA   Leoni G.B., Pitzalis S., Podda R., Zanda M., Silvetti M., Caocci L.,
RA   Cao A., Rosatelli M.C.;
RT   "A specific cystic fibrosis mutation (T338I) associated with the
RT   phenotype of isolated hypotonic dehydration.";
RL   J. Pediatr. 127:281-283(1995).
RN   [47]
RP   VARIANTS CF PHE-42; LEU-117; ARG-139 AND GLU-1006.
RX   MEDLINE=95327091; PubMed=7541510; DOI=10.1016/S0890-8508(95)80038-7;
RA   Ferec C., Novelli G., Verlingue C., Quere I., Dallapiccola B.,
RA   Audrezet M.P., Mercier B.;
RT   "Identification of six novel CFTR mutations in a sample of Italian
RT   cystic fibrosis patients.";
RL   Mol. Cell. Probes 9:135-137(1995).
RN   [48]
RP   VARIANT CF SER-665.
RX   MEDLINE=96254901; PubMed=8800923;
RA   Messaoud T., Verlingue C., Denamur E., Pascaud O., Quere I.,
RA   Fattoum S., Elion J., Ferec C.;
RT   "Distribution of CFTR mutations in cystic fibrosis patients of
RT   Tunisian origin: identification of two novel mutations.";
RL   Eur. J. Hum. Genet. 4:20-24(1996).
RN   [49]
RP   VARIANT CF ARG-314.
RX   MEDLINE=96233933; PubMed=8829633;
RX   DOI=10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.3.CO;2-U;
RA   Nasr S.Z., Strong T.V., Mansoura M.K., Dawson D.C., Collins F.S.;
RT   "Novel missense mutation (G314R) in a cystic fibrosis patient with
RT   hepatic failure.";
RL   Hum. Mutat. 7:151-154(1996).
RN   [50]
RP   VARIANT CF CYS-569.
RX   MEDLINE=96303714; PubMed=8723693;
RX   DOI=10.1002/(SICI)1098-1004(1996)7:4<375::AID-HUMU17>3.3.CO;2-K;
RA   Petreska L., Plaseska D., Koseva S., Stavljenic-Rukavina A.,
RA   Efremov G.D.;
RT   "A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a
RT   patient of Croatian origin.";
RL   Hum. Mutat. 7:374-375(1996).
RN   [51]
RP   VARIANT CF ARG-1061.
RX   MEDLINE=96303716; PubMed=8723695;
RX   DOI=10.1002/(SICI)1098-1004(1996)7:4<376::AID-HUMU18>3.3.CO;2-E;
RA   Bienvenu T., Chertkoff L., Beldjord C., Segal E., Carniglia L.,
RA   Barreiro C., Kaplan J.-C.;
RT   "Identification of three novel mutations in the cystic fibrosis
RT   transmembrane conductance regulator gene in Argentinian CF patients.";
RL   Hum. Mutat. 7:376-377(1996).
RN   [52]
RP   VARIANT CF LEU-562.
RX   MEDLINE=97114290; PubMed=8956039;
RX   DOI=10.1002/(SICI)1098-1004(1996)8:4<340::AID-HUMU7>3.3.CO;2-K;
RA   Hughes D.J., Hill A.J.M., Macek M. Jr., Redmond A.O., Nevin N.C.,
RA   Graham C.A.;
RT   "Mutation characterization of CFTR gene in 206 Northern Irish CF
RT   families: thirty mutations, including two novel, account for
RT   approximately 94% of CF chromosomes.";
RL   Hum. Mutat. 8:340-347(1996).
RN   [53]
RP   VARIANT CBAVD TYR-50.
RX   MEDLINE=97220599; PubMed=9067761;
RX   DOI=10.1002/(SICI)1098-1004(1997)9:2<183::AID-HUMU13>3.3.CO;2-3;
RA   Zielenski J., Patrizio P., Markiewicz D., Asch R.H., Tsui L.-C.;
RT   "Identification of two mutations (S50Y and 4173delC) in the CFTR gene
RT   from patients with congenital bilateral absence of vas deferens
RT   (CBAVD).";
RL   Hum. Mutat. 9:183-184(1997).
RN   [54]
RP   VARIANT CF MET-1140 DEL.
RX   MEDLINE=97255970; PubMed=9101301;
RX   DOI=10.1002/(SICI)1098-1004(1997)9:4<368::AID-HUMU13>3.3.CO;2-F;
RA   Clavel C., Pennaforte F., Pigeon F., Verlingue C., Birembaut P.,
RA   Ferec C.;
RT   "Identification of four novel mutations in the cystic fibrosis
RT   transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA,
RT   and delta M1140.";
RL   Hum. Mutat. 9:368-369(1997).
RN   [55]
RP   VARIANT CF ASP-141.
RX   MEDLINE=97365941; PubMed=9222768;
RX   DOI=10.1002/(SICI)1098-1004(1997)10:1<86::AID-HUMU15>3.3.CO;2-O;
RA   Gouya L., Pascaud O., Munck A., Elion J., Denamur E.;
RT   "Novel mutation (A141D) in exon 4 of the CFTR gene identified in an
RT   Algerian patient.";
RL   Hum. Mutat. 10:86-87(1997).
RN   [56]
RP   VARIANT CF CYS-1066.
RX   MEDLINE=98041703; PubMed=9375855;
RX   DOI=10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.3.CO;2-V;
RA   Casals T., Pacheco P., Barreto C., Gimenez J., Ramos M.D., Pereira S.,
RA   Pinheiro J.A., Cobos N., Curvelo A., Vazquez C., Rocha H.,
RA   Seculi J.L., Perez E., Dapena J., Carrilho E., Duarte A.,
RA   Palacio A.M., Nunes V., Lavinha J., Estivill X.;
RT   "Missense mutation R1066C in the second transmembrane domain of CFTR
RT   causes a severe cystic fibrosis phenotype: study of 19 heterozygous
RT   and 2 homozygous patients.";
RL   Hum. Mutat. 10:387-392(1997).
RN   [57]
RP   VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 AND
RP   LYS-1303.
RX   MEDLINE=98062178; PubMed=9401006;
RX   DOI=10.1002/(SICI)1098-1004(1997)10:6<436::AID-HUMU4>3.3.CO;2-N;
RA   Shrimpton A.E., Borowitz D., Swender P.;
RT   "Cystic fibrosis mutation frequencies in upstate New York.";
RL   Hum. Mutat. 10:436-442(1997).
RN   [58]
RP   VARIANT CF PHE-311 DEL.
RX   MEDLINE=98107952; PubMed=9443874; DOI=10.1086/301681;
RA   Friedman K.J., Leigh M.W., Czarnecki P., Feldman G.L.;
RT   "Cystic fibrosis transmembrane-conductance regulator mutations among
RT   African Americans.";
RL   Am. J. Hum. Genet. 62:195-196(1998).
RN   [59]
RP   VARIANTS CF LEU-1013 AND ILE-1028.
RX   MEDLINE=98180894; PubMed=9521595; DOI=10.1007/s004390050683;
RA   Onay T., Topaloglu O., Zielenski J., Gokgoz N., Kayserili H.,
RA   Camcioglu Y., Cokugras H., Akcakaya N., Apak M., Tsui L.-C.,
RA   Kirdar B.;
RT   "Analysis of the CFTR gene in Turkish cystic fibrosis patients:
RT   identification of three novel mutations (3172delAC, P1013L and
RT   M1028I).";
RL   Hum. Genet. 102:224-230(1998).
RN   [60]
RP   VARIANTS CF.
RX   MEDLINE=99118882; PubMed=9921909; DOI=10.1007/s004390050897;
RA   Bombieri C., Benetazzo M., Saccomani A., Belpinati F., Gile L.S.,
RA   Luisetti M., Pignatti P.F.;
RT   "Complete mutational screening of the CFTR gene in 120 patients with
RT   pulmonary disease.";
RL   Hum. Genet. 103:718-722(1998).
RN   [61]
RP   VARIANTS CF.
RX   MEDLINE=98409505; PubMed=9736778; DOI=10.1093/hmg/7.11.1761;
RA   Vankeerberghen A., Wei L., Jaspers M., Cassiman J.-J., Nilius B.,
RA   Cuppens H.;
RT   "Characterization of 19 disease-associated missense mutations in the
RT   regulatory domain of the cystic fibrosis transmembrane conductance
RT   regulator.";
RL   Hum. Mol. Genet. 7:1761-1769(1998).
RN   [62]
RP   VARIANTS CF SER-560 AND ASP-569.
RX   MEDLINE=98141683; PubMed=9482579;
RX   DOI=10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.3.CO;2-C;
RA   Malone G., Haworth A., Schwarz M.J., Cuppens H., Super M.;
RT   "Detection of five novel mutations of the cystic fibrosis
RT   transmembrane regulator (CFTR) gene in Pakistani patients with cystic
RT   fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).";
RL   Hum. Mutat. 11:152-157(1998).
RN   [63]
RP   VARIANTS CF PHE-13 AND ILE-338.
RX   MEDLINE=98213475; PubMed=9554753;
RA   Leoni G.B., Pitzalis S., Tonelli R., Cao A.;
RT   "Identification of a novel mutation (S13F) in the CFTR gene in a CF
RT   patient of Sardinian origin.";
RL   Hum. Mutat. 11:337-337(1998).
RN   [64]
RP   VARIANTS CF PRO-117 AND ASP-192 DEL.
RX   MEDLINE=98112427; PubMed=9452048;
RA   Feldmann D., Sardet A., Cougoureux E., Plouvier E., Fontaine J.-L.,
RA   Tournier G., Aymard P.;
RT   "Identification of three novel mutations in the CFTR gene, R117P,
RT   deltaD192, and 3121+1G-->A in four French patients.";
RL   Hum. Mutat. Suppl. 1:S78-S80(1998).
RN   [65]
RP   VARIANT CF ARG-1065.
RX   MEDLINE=98112433; PubMed=9452054;
RA   Casals T., Ramos M.D., Gimenez J., Nadal M., Nunes V., Estivill X.;
RT   "Paternal origin of a de novo novel CFTR mutation (L1065R) causing
RT   cystic fibrosis.";
RL   Hum. Mutat. Suppl. 1:S99-S102(1998).
RN   [66]
RP   VARIANT CF ASN-LYS-370 INS.
RX   MEDLINE=98112452; PubMed=9452073;
RA   Shackleton S., Harris A.;
RT   "A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the
RT   CFTR gene.";
RL   Hum. Mutat. Suppl. 1:S156-S157(1998).
RN   [67]
RP   VARIANT CBAVD GLY-513, AND VARIANT MET-470.
RX   PubMed=10651488;
RA   Bienvenu T., Bousquet S., Vidaud D., Hubert D., Francoual C.,
RA   Beldjord C., Kaplan J.-C.;
RT   "A novel missense mutation D513G in exon 10 of the cystic fibrosis
RT   transmembrane conductance regulator (CFTR) gene identified in a French
RT   CBAVD patient.";
RL   Hum. Mutat. 12:213-214(1998).
RN   [68]
RP   VARIANTS CBAVD LEU-111; LYS-244; VAL-544 AND VAL-1364.
RA   de Meeus A., Guittard C., Desgeorges M., Carles S., Demaille J.,
RA   Claustres M.;
RT   "Genetic findings in congenital bilateral aplasia of vas deferens
RT   patients and identification of six novel mutations.";
RL   Hum. Mutat. 12:480-480(1998).
RN   [69]
RP   VARIANT CF GLY-579.
RX   MEDLINE=99140272; PubMed=10094564;
RX   DOI=10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3;
RA   Picci L., Cameran M., Olante P., Zacchello F., Scarpa M.;
RT   "Identification of a D579G homozygote cystic fibrosis patient with
RT   pancreatic sufficiency and minor lung involvement.";
RL   Hum. Mutat. 13:173-173(1999).
CC   -!- FUNCTION: Involved in the transport of chloride ions. May regulate
CC       bicarbonate secretion and salvage in epithelial cells by
CC       regulating the SLC4A7 transporter.
CC   -!- SUBUNIT: Interacts with SHANK2 (By similarity). Interacts with
CC       SLC9A3R1, MYO6 and GOPC. Interacts with SLC4A7 through SLC9A3R1.
CC   -!- INTERACTION:
CC       Q9BUN8:DERL1; NbExp=1; IntAct=EBI-349854, EBI-398977;
CC       Q9HBW0:EDG4; NbExp=1; IntAct=EBI-349854, EBI-765995;
CC       Q9HD26:GOPC; NbExp=1; IntAct=EBI-349854, EBI-349832;
CC       Q5T2W1:PDZK1; NbExp=1; IntAct=EBI-349854, EBI-349819;
CC       Q99942:RNF5; NbExp=1; IntAct=EBI-349854, EBI-348482;
CC       O14745:SLC9A3R1; NbExp=1; IntAct=EBI-349854, EBI-349787;
CC       Q15599:SLC9A3R2; NbExp=1; IntAct=EBI-349854, EBI-1149760;
CC   -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=P13569-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=P13569-2; Sequence=VSP_022123;
CC         Note=Skipping of exon 9: a high number of TG repeats and a low
CC         number of T repeats at the intron 8-exon 9 junction favor exon
CC         skipping. Causes congenital bilateral absence of the vas
CC         deferens (CBAVD);
CC       Name=3;
CC         IsoId=P13569-3; Sequence=VSP_022124, VSP_022125;
CC         Note=Skipping of the first 248 nucleotides of exon 13, caused by
CC         mutation of the exon splicing exon (ESE) in exon 13. Causes
CC         cystic fibrosis (CF);
CC   -!- TISSUE SPECIFICITY: Found on the surface of the epithelial cells
CC       that line the lungs and other organs.
CC   -!- DOMAIN: The PDZ-binding motif mediates interactions with GOPC and
CC       with the SLC4A7, SLC9A3R1/EBP50 complex.
CC   -!- DISEASE: Defects in CFTR are the cause of cystic fibrosis (CF)
CC       [MIM:219700]; also known as mucoviscidosis. CF is the most common
CC       genetic disease in the Caucasian population, with a prevalence of
CC       about 1 in 2000 live births. Inheritance is autosomal recessive.
CC       CF is a common generalized disorder of exocrine gland function
CC       which impairs clearance of secretions in a variety of organs. It
CC       is characterized by the triad of chronic bronchopulmonary disease
CC       (with recurrent respiratory infections), pancreatic insufficiency
CC       (which leads to malabsorption and growth retardation) and elevated
CC       sweat electrolytes.
CC   -!- DISEASE: Defects in CFTR are the cause of congenital bilateral
CC       absence of the vas deferens (CBAVD) [MIM:277180]. CBAVD is an
CC       important cause of sterility in men and could represent an
CC       incomplete form of cystic fibrosis, as the majority of men
CC       suffering from cystic fibrosis lack the vas deferens.
CC   -!- SIMILARITY: Belongs to the ABC transporter family. CFTR
CC       transporter (TC 3.A.1.202) subfamily.
CC   -!- SIMILARITY: Contains 2 ABC transmembrane type-1 domains.
CC   -!- SIMILARITY: Contains 2 ABC transporter domains.
CC   -!- WEB RESOURCE: Name=CFTR; Note=Cystic fibrosis mutation db;
CC       URL="http://www.genet.sickkids.on.ca/cftr/";
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.genetests.org/query?gene=CFTR";
CC   -!- WEB RESOURCE: Name=Wikipedia; Note=CFTR entry;
CC       URL="http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator";
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DR   EMBL; M28668; AAA35680.1; -; mRNA.
DR   EMBL; M55131; AAC13657.1; -; Genomic_DNA.
DR   EMBL; M55106; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55107; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55108; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55110; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55111; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55112; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55113; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55114; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55115; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55116; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55117; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55118; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55119; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55120; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55121; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55122; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55123; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55124; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55125; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55126; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55127; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55128; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55129; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; M55130; AAC13657.1; JOINED; Genomic_DNA.
DR   EMBL; DQ354388; ABC79050.1; -; Genomic_DNA.
DR   EMBL; DQ354389; ABC79052.1; -; Genomic_DNA.
DR   EMBL; DQ354390; ABC79054.1; -; Genomic_DNA.
DR   EMBL; DQ354391; ABC79056.1; -; Genomic_DNA.
DR   EMBL; DQ356258; ABC87055.1; -; Genomic_DNA.
DR   EMBL; DQ356259; ABC87057.1; -; Genomic_DNA.
DR   EMBL; DQ356261; ABC87061.1; -; Genomic_DNA.
DR   EMBL; DQ356262; ABC87063.1; -; Genomic_DNA.
DR   EMBL; DQ356263; ABC87065.1; -; Genomic_DNA.
DR   EMBL; DQ356264; ABC87067.1; -; Genomic_DNA.
DR   EMBL; DQ388128; ABD72183.1; -; Genomic_DNA.
DR   EMBL; DQ388129; ABD72185.1; -; Genomic_DNA.
DR   EMBL; DQ388131; ABD72189.1; -; Genomic_DNA.
DR   EMBL; DQ388132; ABD72191.1; -; Genomic_DNA.
DR   EMBL; DQ388133; ABD72193.1; -; Genomic_DNA.
DR   EMBL; DQ388134; ABD72195.1; -; Genomic_DNA.
DR   EMBL; DQ388135; ABD72197.1; -; Genomic_DNA.
DR   EMBL; DQ388138; ABD72203.1; -; Genomic_DNA.
DR   EMBL; DQ388139; ABD72205.1; -; Genomic_DNA.
DR   EMBL; DQ388140; ABD72207.1; -; Genomic_DNA.
DR   EMBL; DQ388141; ABD72209.1; -; Genomic_DNA.
DR   EMBL; DQ388142; ABD72211.1; -; Genomic_DNA.
DR   EMBL; DQ388143; ABD72213.1; -; Genomic_DNA.
DR   EMBL; DQ388145; ABD72217.1; -; Genomic_DNA.
DR   EMBL; AC000061; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC000111; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH236947; EAL24353.1; -; Genomic_DNA.
DR   EMBL; M65196; AAA51979.1; -; Genomic_DNA.
DR   EMBL; M65197; AAA51980.1; -; Genomic_DNA.
DR   PIR; A39069; DVHUCF.
DR   RefSeq; NP_000483.3; -.
DR   UniGene; Hs.489786; -.
DR   UniGene; Hs.621460; -.
DR   UniGene; Hs.661104; -.
DR   PDB; 1NBD; Model; -; A=425-638.
DR   PDB; 1XMI; X-ray; 2.25 A; A/B/C/D/E=389-678.
DR   PDB; 1XMJ; X-ray; 2.30 A; A=389-678.
DR   PDB; 2BBO; X-ray; 2.55 A; A=389-678.
DR   PDB; 2BBS; X-ray; 2.05 A; A/B=389-678.
DR   PDB; 2BBT; X-ray; 2.30 A; A/B=389-678.
DR   PDBsum; 1NBD; -.
DR   PDBsum; 1XMI; -.
DR   PDBsum; 1XMJ; -.
DR   PDBsum; 2BBO; -.
DR   PDBsum; 2BBS; -.
DR   PDBsum; 2BBT; -.
DR   DisProt; DP00012; -.
DR   IntAct; P13569; -.
DR   PhosphoSite; P13569; -.
DR   Ensembl; ENSG00000001626; Homo sapiens.
DR   GeneID; 1080; -.
DR   KEGG; hsa:1080; -.
DR   NMPDR; fig|9606.3.peg.29332; -.
DR   H-InvDB; HIX0033689; -.
DR   H-InvDB; HIX0060029; -.
DR   HGNC; HGNC:1884; CFTR.
DR   HPA; CAB001951; -.
DR   MIM; 219700; phenotype.
DR   MIM; 277180; phenotype.
DR   MIM; 602421; gene.
DR   Orphanet; 586; Cystic fibrosis.
DR   Orphanet; 676; Pancreatitis, hereditary.
DR   Orphanet; 48; Vas deferens, congenital bilateral aplasia of.
DR   PharmGKB; PA109; -.
DR   HOGENOM; P13569; -.
DR   HOVERGEN; P13569; -.
DR   DrugBank; DB00887; Bumetanide.
DR   DrugBank; DB01016; Glibenclamide.
DR   LinkHub; P13569; -.
DR   ArrayExpress; P13569; -.
DR   CleanEx; HS_CFTR; -.
DR   GO; GO:0016324; C:apical plasma membrane; IDA:UniProtKB.
DR   GO; GO:0016323; C:basolateral plasma membrane; NAS:UniProtKB.
DR   GO; GO:0005524; F:ATP binding; TAS:ProtInc.
DR   GO; GO:0005224; F:ATP-binding and phosphorylation-dependent c...; TAS:ProtInc.
DR   GO; GO:0005260; F:channel-conductance-controlling ATPase activity; NAS:UniProtKB.
DR   GO; GO:0030165; F:PDZ domain binding; IDA:UniProtKB.
DR   GO; GO:0007585; P:respiratory gaseous exchange; TAS:ProtInc.
DR   GO; GO:0006810; P:transport; TAS:ProtInc.
DR   InterPro; IPR003593; AAA+_ATPase_core.
DR   InterPro; IPR011527; ABC_TM_1.
DR   InterPro; IPR001140; ABC_TM_transpt.
DR   InterPro; IPR003439; ABC_transporter-like.
DR   InterPro; IPR005291; cAMP_cl_channel.
DR   InterPro; IPR009147; CysFib_conduc_TM.
DR   PANTHER; PTHR19242:SF8; cAMP_cl_channel; 1.
DR   Pfam; PF00664; ABC_membrane; 2.
DR   Pfam; PF00005; ABC_tran; 2.
DR   PRINTS; PR01851; CYSFIBREGLTR.
DR   ProDom; PD000006; ABC_transporter; 2.
DR   SMART; SM00382; AAA; 2.
DR   TIGRFAMs; TIGR01271; CFTR_protein; 1.
DR   PROSITE; PS50929; ABC_TM1F; 2.
DR   PROSITE; PS00211; ABC_TRANSPORTER_1; 1.
DR   PROSITE; PS50893; ABC_TRANSPORTER_2; 2.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; ATP-binding; Chloride;
KW   Chloride channel; Disease mutation; Glycoprotein; Ion transport;
KW   Ionic channel; Membrane; Nucleotide-binding; Phosphoprotein;
KW   Polymorphism; Repeat; Transmembrane; Transport.
FT   CHAIN         1   1480       Cystic fibrosis transmembrane conductance
FT                                regulator.
FT                                /FTId=PRO_0000093419.
FT   TOPO_DOM      1     80       Cytoplasmic (Potential).
FT   TRANSMEM     81    103       1 (Potential).
FT   TOPO_DOM    104    117       Extracellular (Potential).
FT   TRANSMEM    118    138       2 (Potential).
FT   TOPO_DOM    139    194       Cytoplasmic (Potential).
FT   TRANSMEM    195    215       3 (Potential).
FT   TOPO_DOM    216    220       Extracellular (Potential).
FT   TRANSMEM    221    241       4 (Potential).
FT   TOPO_DOM    242    307       Cytoplasmic (Potential).
FT   TRANSMEM    308    328       5 (Potential).
FT   TOPO_DOM    329    330       Extracellular (Potential).
FT   TRANSMEM    331    350       6 (Potential).
FT   TOPO_DOM    351    859       Cytoplasmic (Potential).
FT   TRANSMEM    860    880       7 (Potential).
FT   TOPO_DOM    881    911       Extracellular (Potential).
FT   TRANSMEM    912    932       8 (Potential).
FT   TOPO_DOM    933    990       Cytoplasmic (Potential).
FT   TRANSMEM    991   1011       9 (Potential).
FT   TOPO_DOM   1012   1013       Extracellular (Potential).
FT   TRANSMEM   1014   1034       10 (Potential).
FT   TOPO_DOM   1035   1102       Cytoplasmic (Potential).
FT   TRANSMEM   1103   1123       11 (Potential).
FT   TOPO_DOM   1124   1128       Extracellular (Potential).
FT   TRANSMEM   1129   1149       12 (Potential).
FT   TOPO_DOM   1150   1480       Cytoplasmic (Potential).
FT   DOMAIN       81    365       ABC transmembrane type-1 1.
FT   DOMAIN      423    646       ABC transporter 1.
FT   DOMAIN      859   1155       ABC transmembrane type-1 2.
FT   DOMAIN     1210   1443       ABC transporter 2.
FT   NP_BIND     458    465       ATP 1 (Potential).
FT   NP_BIND    1244   1251       ATP 2 (Potential).
FT   MOTIF      1478   1480       PDZ-binding.
FT   MOD_RES     515    515       Phosphotyrosine.
FT   MOD_RES     660    660       Phosphoserine; by PKA.
FT   MOD_RES     686    686       Phosphoserine; by PKC.
FT   MOD_RES     700    700       Phosphoserine; by PKA.
FT   MOD_RES     712    712       Phosphoserine; by PKA.
FT   MOD_RES     737    737       Phosphoserine; by PKA.
FT   MOD_RES     753    753       Phosphoserine; by PKA.
FT   MOD_RES     768    768       Phosphoserine; by PKA.
FT   MOD_RES     790    790       Phosphoserine; by PKC.
FT   MOD_RES     795    795       Phosphoserine; by PKA.
FT   MOD_RES     813    813       Phosphoserine; by PKA.
FT   CARBOHYD    894    894       N-linked (GlcNAc...).
FT   CARBOHYD    900    900       N-linked (GlcNAc...).
FT   VAR_SEQ     404    464       Missing (in isoform 2).
FT                                /FTId=VSP_022123.
FT   VAR_SEQ     589    605       SCVCKLMANKTRILVTS -> RRRCSCLLDRNKKTIF (in
FT                                isoform 3).
FT                                /FTId=VSP_022124.
FT   VAR_SEQ     606   1480       Missing (in isoform 3).
FT                                /FTId=VSP_022125.
FT   VARIANT      13     13       S -> F (in CF).
FT                                /FTId=VAR_000101.
FT   VARIANT      31     31       R -> C (in dbSNP:rs1800073).
FT                                /FTId=VAR_000102.
FT   VARIANT      31     31       R -> L (in CF).
FT                                /FTId=VAR_000103.
FT   VARIANT      42     42       S -> F (in CF).
FT                                /FTId=VAR_000104.
FT   VARIANT      44     44       D -> G (in CF).
FT                                /FTId=VAR_000105.
FT   VARIANT      44     44       D -> V (in dbSNP:rs1800074).
FT                                /FTId=VAR_000106.
FT   VARIANT      50     50       S -> Y (in CBAVD).
FT                                /FTId=VAR_000107.
FT   VARIANT      57     57       W -> G (in CF).
FT                                /FTId=VAR_000108.
FT   VARIANT      67     67       P -> L (in CF).
FT                                /FTId=VAR_000109.
FT   VARIANT      74     74       R -> W (in CF).
FT                                /FTId=VAR_000110.
FT   VARIANT      75     75       R -> Q (in dbSNP:rs1800076).
FT                                /FTId=VAR_000111.
FT   VARIANT      85     85       G -> E (in CF).
FT                                /FTId=VAR_000112.
FT   VARIANT      87     87       F -> L (in CF).
FT                                /FTId=VAR_000113.
FT   VARIANT      91     91       G -> R (in CF).
FT                                /FTId=VAR_000114.
FT   VARIANT      92     92       E -> K (in CF).
FT                                /FTId=VAR_000115.
FT   VARIANT      98     98       Q -> R (in CF).
FT                                /FTId=VAR_000116.
FT   VARIANT     105    105       I -> S (in CF).
FT                                /FTId=VAR_000117.
FT   VARIANT     109    109       Y -> C (in CF).
FT                                /FTId=VAR_000118.
FT   VARIANT     110    110       D -> H (in CF).
FT                                /FTId=VAR_000119.
FT   VARIANT     111    111       P -> L (in CBAVD).
FT                                /FTId=VAR_000120.
FT   VARIANT     117    117       R -> C (in CF).
FT                                /FTId=VAR_000121.
FT   VARIANT     117    117       R -> H (in CF and CBAVD).
FT                                /FTId=VAR_000122.
FT   VARIANT     117    117       R -> L (in CF).
FT                                /FTId=VAR_000123.
FT   VARIANT     117    117       R -> P (in CF).
FT                                /FTId=VAR_000124.
FT   VARIANT     120    120       A -> T (in CF).
FT                                /FTId=VAR_000125.
FT   VARIANT     138    138       L -> P (in dbSNP:rs1800078).
FT                                /FTId=VAR_009895.
FT   VARIANT     139    139       H -> R (in CF).
FT                                /FTId=VAR_000126.
FT   VARIANT     141    141       A -> D (in CF).
FT                                /FTId=VAR_000127.
FT   VARIANT     148    148       I -> T (in CF; dbSNP:rs35516286).
FT                                /FTId=VAR_000128.
FT   VARIANT     149    149       G -> R (in CBAVD).
FT                                /FTId=VAR_000129.
FT   VARIANT     170    170       R -> H (in dbSNP:rs1800079).
FT                                /FTId=VAR_009896.
FT   VARIANT     178    178       G -> R (in CF).
FT                                /FTId=VAR_000130.
FT   VARIANT     182    182       S -> G (in dbSNP:rs1800080).
FT                                /FTId=VAR_009897.
FT   VARIANT     192    192       Missing (in CF).
FT                                /FTId=VAR_000131.
FT   VARIANT     193    193       E -> K (in CBAVD and CF).
FT                                /FTId=VAR_000132.
FT   VARIANT     199    199       H -> Q (in CF).
FT                                /FTId=VAR_000133.
FT   VARIANT     199    199       H -> Y (in CF).
FT                                /FTId=VAR_000134.
FT   VARIANT     205    205       P -> S (in CF).
FT                                /FTId=VAR_000135.
FT   VARIANT     206    206       L -> W (in CF).
FT                                /FTId=VAR_000136.
FT   VARIANT     225    225       C -> R (in CF).
FT                                /FTId=VAR_000137.
FT   VARIANT     244    244       M -> K (in CBAVD).
FT                                /FTId=VAR_000138.
FT   VARIANT     258    258       R -> G (in CBAVD).
FT                                /FTId=VAR_000139.
FT   VARIANT     287    287       N -> Y (in CF).
FT                                /FTId=VAR_000140.
FT   VARIANT     297    297       R -> Q (in CF).
FT                                /FTId=VAR_000141.
FT   VARIANT     301    301       Y -> C (in CF).
FT                                /FTId=VAR_000142.
FT   VARIANT     307    307       S -> N (in CF).
FT                                /FTId=VAR_000143.
FT   VARIANT     311    311       F -> L (in CF).
FT                                /FTId=VAR_000144.
FT   VARIANT     311    311       Missing (in CF).
FT                                /FTId=VAR_000145.
FT   VARIANT     314    314       G -> E (in CF).
FT                                /FTId=VAR_000146.
FT   VARIANT     314    314       G -> R (in CF).
FT                                /FTId=VAR_000147.
FT   VARIANT     322    322       V -> M (in dbSNP:rs1800085).
FT                                /FTId=VAR_009898.
FT   VARIANT     334    334       R -> W (in CF; mild).
FT                                /FTId=VAR_000148.
FT   VARIANT     336    336       I -> K (in CF).
FT                                /FTId=VAR_000150.
FT   VARIANT     338    338       T -> I (in CF; mild; isolated hypotonic
FT                                dehydration).
FT                                /FTId=VAR_000151.
FT   VARIANT     346    346       L -> P (in CF; dominant mutation but mild
FT                                phenotype).
FT                                /FTId=VAR_000152.
FT   VARIANT     347    347       R -> H (in CF).
FT                                /FTId=VAR_000153.
FT   VARIANT     347    347       R -> L (in CF).
FT                                /FTId=VAR_000154.
FT   VARIANT     347    347       R -> P (in CF; MILD).
FT                                /FTId=VAR_000155.
FT   VARIANT     351    351       T -> S (in dbSNP:rs1800086).
FT                                /FTId=VAR_009899.
FT   VARIANT     352    352       R -> Q (in CF).
FT                                /FTId=VAR_000156.
FT   VARIANT     353    353       Q -> H (in dbSNP:rs1800087).
FT                                /FTId=VAR_009900.
FT   VARIANT     359    360       QT -> KK (in CF).
FT                                /FTId=VAR_000158.
FT   VARIANT     359    359       Q -> K (in CF).
FT                                /FTId=VAR_000157.
FT   VARIANT     370    370       K -> KNK (in CF).
FT                                /FTId=VAR_000159.
FT   VARIANT     455    455       A -> E (in CF).
FT                                /FTId=VAR_000160.
FT   VARIANT     456    456       V -> F (in CF).
FT                                /FTId=VAR_000161.
FT   VARIANT     458    458       G -> V (in CF).
FT                                /FTId=VAR_000162.
FT   VARIANT     467    467       L -> F (in dbSNP:rs1800089).
FT                                /FTId=VAR_000163.
FT   VARIANT     470    470       V -> M (in dbSNP:rs213950).
FT                                /FTId=VAR_000164.
FT   VARIANT     480    480       G -> C (in CF).
FT                                /FTId=VAR_000165.
FT   VARIANT     492    492       S -> F (in CF).
FT                                /FTId=VAR_000166.
FT   VARIANT     504    504       E -> Q (in CF).
FT                                /FTId=VAR_000167.
FT   VARIANT     506    506       I -> M (in dbSNP:rs1800092).
FT                                /FTId=VAR_009901.
FT   VARIANT     506    506       I -> V.
FT                                /FTId=VAR_000168.
FT   VARIANT     507    507       I -> V (in dbSNP:rs1800091).
FT                                /FTId=VAR_000169.
FT   VARIANT     507    507       Missing (in CF).
FT                                /FTId=VAR_000170.
FT   VARIANT     508    508       F -> C (in dbSNP:rs1800093).
FT                                /FTId=VAR_000172.
FT   VARIANT     508    508       Missing (in CF and CBAVD; most common
FT                                mutation; 72% of the population; CFTR
FT                                fails to be properly delivered to plasma
FT                                membrane).
FT                                /FTId=VAR_000171.
FT   VARIANT     513    513       D -> G (in CBAVD).
FT                                /FTId=VAR_000173.
FT   VARIANT     520    520       V -> F (in CF).
FT                                /FTId=VAR_000174.
FT   VARIANT     544    544       G -> V (in CBAVD).
FT                                /FTId=VAR_000175.
FT   VARIANT     549    549       S -> I (in CF).
FT                                /FTId=VAR_000177.
FT   VARIANT     549    549       S -> N (in CF).
FT                                /FTId=VAR_000176.
FT   VARIANT     549    549       S -> R (in CF).
FT                                /FTId=VAR_000178.
FT   VARIANT     551    551       G -> D (in CF).
FT                                /FTId=VAR_000179.
FT   VARIANT     551    551       G -> S (in CF).
FT                                /FTId=VAR_000180.
FT   VARIANT     553    553       R -> Q (in CF).
FT                                /FTId=VAR_000181.
FT   VARIANT     558    558       L -> S (in CF).
FT                                /FTId=VAR_000182.
FT   VARIANT     559    559       A -> T (in CF).
FT                                /FTId=VAR_000183.
FT   VARIANT     560    560       R -> K (in CF).
FT                                /FTId=VAR_000184.
FT   VARIANT     560    560       R -> S (in CF).
FT                                /FTId=VAR_000185.
FT   VARIANT     560    560       R -> T (in CF).
FT                                /FTId=VAR_000186.
FT   VARIANT     562    562       V -> I (in dbSNP:rs1800097).
FT                                /FTId=VAR_000187.
FT   VARIANT     562    562       V -> L (in CF).
FT                                /FTId=VAR_000188.
FT   VARIANT     563    563       Y -> N (in CF).
FT                                /FTId=VAR_000189.
FT   VARIANT     569    569       Y -> C (in CF).
FT                                /FTId=VAR_000190.
FT   VARIANT     569    569       Y -> D (in CF).
FT                                /FTId=VAR_000191.
FT   VARIANT     569    569       Y -> H (in CF).
FT                                /FTId=VAR_000192.
FT   VARIANT     571    571       L -> S (in CF).
FT                                /FTId=VAR_000193.
FT   VARIANT     572    572       D -> N (in CF).
FT                                /FTId=VAR_000194.
FT   VARIANT     574    574       P -> H (in CF).
FT                                /FTId=VAR_000195.
FT   VARIANT     576    576       G -> A (in dbSNP:rs1800098).
FT                                /FTId=VAR_000196.
FT   VARIANT     579    579       D -> G (in CF).
FT                                /FTId=VAR_000197.
FT   VARIANT     601    601       I -> F (in CF).
FT                                /FTId=VAR_000198.
FT   VARIANT     610    610       L -> S (in CF).
FT                                /FTId=VAR_000199.
FT   VARIANT     613    613       A -> T (in CF).
FT                                /FTId=VAR_000200.
FT   VARIANT     614    614       D -> G (in CF).
FT                                /FTId=VAR_000201.
FT   VARIANT     618    618       I -> T (in CF).
FT                                /FTId=VAR_000202.
FT   VARIANT     619    619       L -> S (in CF).
FT                                /FTId=VAR_000203.
FT   VARIANT     620    620       H -> P (in CF).
FT                                /FTId=VAR_000204.
FT   VARIANT     620    620       H -> Q (in CF).
FT                                /FTId=VAR_000205.
FT   VARIANT     622    622       G -> D (in oligospermia).
FT                                /FTId=VAR_000206.
FT   VARIANT     628    628       G -> R (in CF).
FT                                /FTId=VAR_000207.
FT   VARIANT     633    633       L -> P (in CF).
FT                                /FTId=VAR_000208.
FT   VARIANT     648    648       D -> V (in CF).
FT                                /FTId=VAR_000209.
FT   VARIANT     651    651       D -> N (in CF).
FT                                /FTId=VAR_000210.
FT   VARIANT     654    654       S -> G (in dbSNP:rs1800099).
FT                                /FTId=VAR_009902.
FT   VARIANT     665    665       T -> S (in CF).
FT                                /FTId=VAR_000211.
FT   VARIANT     668    668       R -> C (in dbSNP:rs1800100).
FT                                /FTId=VAR_000212.
FT   VARIANT     693    693       F -> L (in dbSNP:rs1800101).
FT                                /FTId=VAR_000213.
FT   VARIANT     754    754       V -> M (in CF).
FT                                /FTId=VAR_000214.
FT   VARIANT     766    766       R -> M (in CBAVD).
FT                                /FTId=VAR_000215.
FT   VARIANT     792    792       R -> G (in CBAVD).
FT                                /FTId=VAR_000216.
FT   VARIANT     800    800       A -> G (in CBAVD).
FT                                /FTId=VAR_000217.
FT   VARIANT     807    807       I -> M (in CBAVD; dbSNP:rs1800103).
FT                                /FTId=VAR_000218.
FT   VARIANT     822    822       E -> K (in CF).
FT                                /FTId=VAR_000219.
FT   VARIANT     826    826       E -> K (in thoracic sarcoidosis).
FT                                /FTId=VAR_000220.
FT   VARIANT     866    866       C -> Y (in CF).
FT                                /FTId=VAR_000221.
FT   VARIANT     903    903       Y -> H (in dbSNP:rs1800106).
FT                                /FTId=VAR_009903.
FT   VARIANT     909    909       S -> I (in dbSNP:rs1800107).
FT                                /FTId=VAR_009904.
FT   VARIANT     912    912       S -> L.
FT                                /FTId=VAR_000222.
FT   VARIANT     913    913       Y -> C (in CF).
FT                                /FTId=VAR_000223.
FT   VARIANT     917    917       Y -> C (in CF).
FT                                /FTId=VAR_000224.
FT   VARIANT     949    949       H -> Y (in CF).
FT                                /FTId=VAR_000225.
FT   VARIANT     952    952       M -> I (in CF).
FT                                /FTId=VAR_000226.
FT   VARIANT     967    967       L -> S (in dbSNP:rs1800110).
FT                                /FTId=VAR_009905.
FT   VARIANT     997    997       L -> F (in CF; dbSNP:rs1800111).
FT                                /FTId=VAR_000227.
FT   VARIANT    1005   1005       I -> R (in CF).
FT                                /FTId=VAR_000228.
FT   VARIANT    1006   1006       A -> E (in CF).
FT                                /FTId=VAR_000229.
FT   VARIANT    1013   1013       P -> L (in CF).
FT                                /FTId=VAR_000230.
FT   VARIANT    1028   1028       M -> I (in CF).
FT                                /FTId=VAR_000231.
FT   VARIANT    1052   1052       F -> V (in CF).
FT                                /FTId=VAR_000232.
FT   VARIANT    1061   1061       G -> R (in CF).
FT                                /FTId=VAR_000233.
FT   VARIANT    1065   1065       L -> P (in CF).
FT                                /FTId=VAR_000234.
FT   VARIANT    1065   1065       L -> R (in CF).
FT                                /FTId=VAR_000235.
FT   VARIANT    1066   1066       R -> C (in CF).
FT                                /FTId=VAR_000236.
FT   VARIANT    1066   1066       R -> H (in CF).
FT                                /FTId=VAR_000237.
FT   VARIANT    1066   1066       R -> L (in CF).
FT                                /FTId=VAR_000238.
FT   VARIANT    1067   1067       A -> T (in CF).
FT                                /FTId=VAR_000239.
FT   VARIANT    1067   1067       A -> V (in dbSNP:rs1800114).
FT                                /FTId=VAR_000240.
FT   VARIANT    1070   1070       R -> P (in CF).
FT                                /FTId=VAR_000242.
FT   VARIANT    1070   1070       R -> Q (in CF).
FT                                /FTId=VAR_000241.
FT   VARIANT    1070   1070       R -> W (in CBAVD).
FT                                /FTId=VAR_011564.
FT   VARIANT    1071   1071       Q -> P (in CF).
FT                                /FTId=VAR_000243.
FT   VARIANT    1072   1072       P -> L (in CF).
FT                                /FTId=VAR_000244.
FT   VARIANT    1077   1077       L -> P (in CF).
FT                                /FTId=VAR_000245.
FT   VARIANT    1085   1085       H -> R (in CF).
FT                                /FTId=VAR_000246.
FT   VARIANT    1098   1098       W -> R (in CF).
FT                                /FTId=VAR_000247.
FT   VARIANT    1101   1101       M -> K (in CF).
FT                                /FTId=VAR_000248.
FT   VARIANT    1101   1101       M -> R (in CF).
FT                                /FTId=VAR_011565.
FT   VARIANT    1137   1137       M -> V (in CF).
FT                                /FTId=VAR_000249.
FT   VARIANT    1140   1140       Missing (in CF).
FT                                /FTId=VAR_000250.
FT   VARIANT    1152   1152       D -> H (in CF).
FT                                /FTId=VAR_000251.
FT   VARIANT    1162   1162       R -> L (in dbSNP:rs1800120).
FT                                /FTId=VAR_000252.
FT   VARIANT    1220   1220       T -> I (in dbSNP:rs1800123).
FT                                /FTId=VAR_000253.
FT   VARIANT    1234   1234       I -> V (in CF).
FT                                /FTId=VAR_000254.
FT   VARIANT    1235   1235       S -> R (in CF).
FT                                /FTId=VAR_000255.
FT   VARIANT    1244   1244       G -> E (in CF).
FT                                /FTId=VAR_000256.
FT   VARIANT    1249   1249       G -> E (in CF).
FT                                /FTId=VAR_000257.
FT   VARIANT    1251   1251       S -> N (in CF).
FT                                /FTId=VAR_000258.
FT   VARIANT    1255   1255       S -> P (in CF).
FT                                /FTId=VAR_000259.
FT   VARIANT    1270   1270       D -> N (in CF).
FT                                /FTId=VAR_000260.
FT   VARIANT    1282   1282       W -> R (in CF).
FT                                /FTId=VAR_000261.
FT   VARIANT    1283   1283       R -> M (in CF).
FT                                /FTId=VAR_000262.
FT   VARIANT    1286   1286       F -> S (in CF).
FT                                /FTId=VAR_000263.
FT   VARIANT    1291   1291       Q -> H (in CF).
FT                                /FTId=VAR_000264.
FT   VARIANT    1291   1291       Q -> R (in CF).
FT                                /FTId=VAR_000265.
FT   VARIANT    1303   1303       N -> H (in CF).
FT                                /FTId=VAR_000266.
FT   VARIANT    1303   1303       N -> K (in CF).
FT                                /FTId=VAR_000267.
FT   VARIANT    1349   1349       G -> D (in CF).
FT                                /FTId=VAR_000268.
FT   VARIANT    1364   1364       A -> V (in CBAVD).
FT                                /FTId=VAR_000269.
FT   VARIANT    1397   1397       V -> E (in CF).
FT                                /FTId=VAR_000270.
FT   CONFLICT    620    620       H -> N (in Ref. 1).
FT   CONFLICT    833    833       F -> L (in Ref. 1).
FT   CONFLICT   1453   1453       R -> W (in Ref. 3; ABD72213).
FT   STRAND      392    399
FT   HELIX       403    409
FT   HELIX       433    436
FT   STRAND      440    448
FT   STRAND      453    457
FT   HELIX       464    471
FT   STRAND      477    483
FT   STRAND      488    491
FT   STRAND      499    501
FT   HELIX       502    507
FT   HELIX       514    523
FT   HELIX       527    531
FT   HELIX       536    538
FT   HELIX       550    563
FT   STRAND      567    573
FT   TURN        574    577
FT   HELIX       580    589
FT   HELIX       590    594
FT   TURN        595    597
FT   STRAND      598    603
FT   HELIX       607    612
FT   STRAND      614    620
FT   STRAND      623    628
FT   HELIX       630    636
FT   HELIX       640    643
FT   TURN        644    647
FT   HELIX       655    670
SQ   SEQUENCE   1480 AA;  168142 MW;  8D082AA2E768C065 CRC64;
     MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE
     LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA
     IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
     VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL
     GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
     YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT
     WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK
     TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG
     KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV
     LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR
     ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS
     ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ
     MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG
     QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI
     PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN
     NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP
     MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV
     PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK
     ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM
     STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK
     DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL
     LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD
     EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT
     YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA
     ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL
//
