ID   MYOC_HUMAN              Reviewed;         504 AA.
AC   Q99972; O00620; Q7Z6Q9;
DT   15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT   01-JAN-1998, sequence version 2.
DT   10-JUN-2008, entry version 87.
DE   Myocilin precursor (Trabecular meshwork-induced glucocorticoid
DE   response protein).
GN   Name=MYOC; Synonyms=GLC1A, TIGR;
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 [GENOMIC DNA / MRNA], AND VARIANTS GLC1A VAL-364
RP   AND HIS-437.
RX   MEDLINE=97158493; PubMed=9005853; DOI=10.1126/science.275.5300.668;
RA   Stone E.M., Fingert J.H., Alward W.L.M., Nguyen T.D., Polansky J.R.,
RA   Sunden S.L.F., Nishimura D., Clark A.F., Nystuen A., Nichols B.E.,
RA   Mackey D.A., Ritch R., Kalenak J.W., Craven E.R., Sheffield V.C.;
RT   "Identification of a gene that causes primary open angle glaucoma.";
RL   Science 275:668-670(1997).
RN   [2]
RP   PROTEIN SEQUENCE OF 1-6 AND 33-37, AND SEQUENCE REVISION.
RX   MEDLINE=98165818; PubMed=9497363; DOI=10.1074/jbc.273.11.6341;
RA   Nguyen T.D., Chen P., Huang W.D., Chen H., Johnson D., Polansky J.R.;
RT   "Gene structure and properties of TIGR, an olfactomedin-related
RT   glycoprotein cloned from glucocorticoid-induced trabecular meshwork
RT   cells.";
RL   J. Biol. Chem. 273:6341-6350(1998).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   MEDLINE=97424389; PubMed=9280311; DOI=10.1016/S0014-5793(97)00934-4;
RA   Ortego J., Escribano J., Coca-Prados M.;
RT   "Cloning and characterization of subtracted cDNAs from a human ciliary
RT   body library encoding TIGR, a protein involved in juvenile open angle
RT   glaucoma with homology to myosin and olfactomedin.";
RL   FEBS Lett. 413:349-353(1997).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Retina;
RX   MEDLINE=97312692; PubMed=9169133; DOI=10.1006/geno.1997.4682;
RA   Kubota R., Noda S., Wang Y., Minoshima S., Asakawa S., Kudoh J.,
RA   Mashima Y., Oguchi Y., Shimizu N.;
RT   "A novel myosin-like protein (myocilin) expressed in the connecting
RT   cilium of the photoreceptor: molecular cloning, tissue expression, and
RT   chromosomal mapping.";
RL   Genomics 41:360-369(1997).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLC1A ARG-246;
RP   LEU-370; SER-477; LYS-480 AND PHE-499.
RC   TISSUE=Leukocyte;
RX   MEDLINE=97472461; PubMed=9328473; DOI=10.1093/hmg/6.12.2091;
RA   Adam M.F., Belmouden A., Binisti P., Brezin A.P., Valtot F.,
RA   Bechetoille A., Dascotte J.-C., Copin B., Gomez L., Chaventre A.,
RA   Bach J.-F., Garchon H.-J.;
RT   "Recurrent mutations in a single exon encoding the evolutionarily
RT   conserved olfactomedin-homology domain of TIGR in familial open-angle
RT   glaucoma.";
RL   Hum. Mol. Genet. 6:2091-2097(1997).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   MEDLINE=98217378; PubMed=9548973;
RA   Fingert J.H., Ying L., Swiderski R.E., Nystuen A.M., Arbour N.C.,
RA   Alward W.L.M., Sheffield V.C., Stone E.M.;
RT   "Characterization and comparison of the human and mouse GLC1A glaucoma
RT   genes.";
RL   Genome Res. 8:377-384(1998).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   MEDLINE=98113364; PubMed=9446806; DOI=10.1006/bbrc.1997.7972;
RA   Kubota R., Kudoh J., Mashima Y., Asakawa S., Minoshima S.,
RA   Hejtmancik J.F., Oguchi Y., Shimizu N.;
RT   "Genomic organization of the human myocilin gene (MYOC) responsible
RT   for primary open angle glaucoma (GLC1A).";
RL   Biochem. Biophys. Res. Commun. 242:396-400(1998).
RN   [8]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA   Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA   Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA   McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA   Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA   Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA   Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA   Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA   Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA   Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA   Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA   Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA   Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA   Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA   Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA   Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA   Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA   Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA   Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA   Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA   Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA   Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA   Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA   Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA   Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [9]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [10]
RP   DISULFIDE BOND IN OLFACTOMEDIN DOMAIN.
RX   MEDLINE=22501919; PubMed=12615070; DOI=10.1016/S0006-291X(03)00198-0;
RA   Nagy I., Trexler M., Patthy L.;
RT   "Expression and characterization of the olfactomedin domain of human
RT   myocilin.";
RL   Biochem. Biophys. Res. Commun. 302:554-561(2003).
RN   [11]
RP   MUTAGENESIS OF ASN-57.
RX   PubMed=12697062; DOI=10.1186/1471-2156-4-5;
RA   Shepard A.R., Jacobson N., Sui R., Steely H.T., Lotery A.J.,
RA   Stone E.M., Clark A.F.;
RT   "Characterization of rabbit myocilin: implications for human myocilin
RT   glycosylation and signal peptide usage.";
RL   BMC Genet. 4:5-5(2003).
RN   [12]
RP   INTERACTION WITH OLFM3.
RX   MEDLINE=22013900; PubMed=12019210; DOI=10.1093/hmg/11.11.1291;
RA   Torrado M., Trivedi R., Zinovieva R., Karavanova I., Tomarev S.I.;
RT   "Optimedin: a novel olfactomedin-related protein that interacts with
RT   myocilin.";
RL   Hum. Mol. Genet. 11:1291-1301(2002).
RN   [13]
RP   VARIANTS GLC1A ARG-367 AND LEU-370.
RX   MEDLINE=98008006; PubMed=9345106; DOI=10.1086/301612;
RA   Suzuki Y., Shirato S., Taniguchi F., Ohara K., Nishimaki K., Ohta S.;
RT   "Mutations in the TIGR gene in familial primary open-angle glaucoma in
RT   Japan.";
RL   Am. J. Hum. Genet. 61:1202-1204(1997).
RN   [14]
RP   VARIANT GLC1A ARG-337.
RX   MEDLINE=98027214; PubMed=9361308;
RA   Stoilova D., Child A., Brice G., Crick R.P., Fleck B.W., Sarfarazi M.;
RT   "Identification of a new 'TIGR' mutation in a family with juvenile-
RT   onset primary open angle glaucoma.";
RL   Ophthalmic Genet. 18:109-118(1997).
RN   [15]
RP   VARIANTS GLC1A LYS-352; LEU-370; MET-377 AND HIS-437.
RX   MEDLINE=99011274; PubMed=9792882; DOI=10.1086/302098;
RA   Wiggs J.L., Allingham R.R., Vollrath D., Jones K.H., De La Paz M.,
RA   Kern J., Patterson K., Babb V.L., Del Bono E.A., Broomer B.W.,
RA   Pericak-Vance M.A., Haines J.L.;
RT   "Prevalence of mutations in TIGR/Myocilin in patients with adult and
RT   juvenile primary open-angle glaucoma.";
RL   Am. J. Hum. Genet. 63:1549-1552(1998).
RN   [16]
RP   VARIANTS GLC1A ARG-367 AND LEU-370.
RX   MEDLINE=98141135; PubMed=9490287; DOI=10.1007/s004390050661;
RA   Michels-Rautenstrauss K.G., Mardin C.Y., Budde W.M., Liehr T.,
RA   Polansky J.R., Nguyen T., Timmerman V., van Broeckhoven C.,
RA   Naumann G.O.H., Pfeiffer R.A., Rautenstrauss B.W.;
RT   "Juvenile open angle glaucoma: fine mapping of the TIGR gene to
RT   1q24.3-q25.2 and mutation analysis.";
RL   Hum. Genet. 102:103-106(1998).
RN   [17]
RP   VARIANTS GLC1A ARG-367 AND PHE-426.
RX   MEDLINE=98180724; PubMed=9521427;
RX   DOI=10.1002/(SICI)1098-1004(1998)11:3<244::AID-HUMU10>3.3.CO;2-X;
RA   Mansergh F.C., Kenna P.F., Ayuso C., Kiang A.-S., Humphries P.,
RA   Farrar G.J.;
RT   "Novel mutations in the TIGR gene in early and late onset open angle
RT   glaucoma.";
RL   Hum. Mutat. 11:244-251(1998).
RN   [18]
RP   VARIANTS GLC1A LEU-370; ALA-380 AND PRO-502, AND VARIANT LYS-76.
RX   MEDLINE=99079298; PubMed=9863594;
RA   Stoilova D., Child A., Brice G., Desai T., Barsoum-Homsy M.,
RA   Ozdemir N., Chevrette L., Adam M.F., Garchon H.-J., Pitts Crick R.,
RA   Sarfarazi M.;
RT   "Novel TIGR/MYOC mutations in families with juvenile onset primary
RT   open angle glaucoma.";
RL   J. Med. Genet. 35:989-992(1998).
RN   [19]
RP   VARIANT GLC1A GLU-423.
RX   MEDLINE=98361153; PubMed=9697688; DOI=10.1038/1203;
RA   Morissette J., Clepet C., Moisan S., Dubois S., Winstall E.,
RA   Vermeeren D., Nguyen T.D., Polansky J.R., Cote G., Anctil J.-L.,
RA   Amyot M., Plante M., Falardeau P., Raymond V.;
RT   "Homozygotes carrying an autosomal dominant TIGR mutation do not
RT   manifest glaucoma.";
RL   Nat. Genet. 19:319-321(1998).
RN   [20]
RP   VARIANTS GLC1A, AND VARIANTS.
RX   MEDLINE=98181799; PubMed=9535666; DOI=10.1056/NEJM199804093381503;
RA   Alward W.L.M., Fingert J.H., Coote M.A., Johnson A.T., Lerner S.F.,
RA   Junqua D., Durcan F.J., McCartney P.J., Mackey D.A., Sheffield V.C.,
RA   Stone E.M.;
RT   "Clinical features associated with mutations in the chromosome 1 open-
RT   angle glaucoma gene.";
RL   N. Engl. J. Med. 338:1022-1027(1998).
RN   [21]
RP   VARIANT GLC1A ILE-353.
RX   MEDLINE=99264259; PubMed=10330365; DOI=10.1086/302407;
RA   Yoon S.-J.K., Kim H.-S., Moon J.-I., Lim J.M., Joo C.-K.;
RT   "Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in
RT   Korea.";
RL   Am. J. Hum. Genet. 64:1775-1778(1999).
RN   [22]
RP   VARIANTS GLC1A, AND VARIANTS.
RX   MEDLINE=99214031; PubMed=10196380; DOI=10.1093/hmg/8.5.899;
RA   Fingert J.H., Heon E., Liebmann J.M., Yamamoto T., Craig J.E.,
RA   Rait J., Kawase K., Hoh S.-T., Buys Y.M., Dickinson J., Hockey R.R.,
RA   Williams-Lyn D., Trope G., Kitazawa Y., Ritch R., Mackey D.A.,
RA   Alward W.L.M., Sheffield V.C., Stone E.M.;
RT   "Analysis of myocilin mutations in 1703 glaucoma patients from five
RT   different populations.";
RL   Hum. Mol. Genet. 8:899-905(1999).
RN   [23]
RP   VARIANT GLC1A ALA-53.
RX   MEDLINE=20108301; PubMed=10644174;
RX   DOI=10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU38>3.0.CO;2-O;
RA   Pang C.P., Leung Y.F., Chua J.K.H., Baum L., Fan D.S.P., Lam D.S.;
RT   "Novel TIGR sequence alteration Val53Ala.";
RL   Hum. Mutat. 15:122-122(2000).
RN   [24]
RP   VARIANT GLC1A ARG-433.
RX   MEDLINE=20273028; PubMed=10819638; DOI=10.1136/jmg.37.4.301;
RA   Vasconcellos J.P.C., Melo M.B., Tsukumo D.M.L., Basseres D.S.,
RA   Bordin S., Saad S.T.O., Costa F.F.;
RT   "Novel mutation in the MYOC gene in primary open glaucoma patients.";
RL   J. Med. Genet. 37:301-303(2000).
CC   -!- FUNCTION: May participate in the obstruction of fluid outflow in
CC       the trabecular meshwork.
CC   -!- SUBUNIT: Homodimer. Interacts with OLFM3.
CC   -!- SUBCELLULAR LOCATION: Rough endoplasmic reticulum. Secreted. Cell
CC       projection, cilium. Note=Located preferentially in the ciliary
CC       rootlet and basal body of the connecting cilium of photoreceptor
CC       cells, and in the rough endoplasmic reticulum. Also secreted.
CC   -!- TISSUE SPECIFICITY: Expressed in large amounts in various types of
CC       muscle, ciliary body, papillary sphincter, skeletal muscle, heart
CC       and other tissues. Expressed predominantly in the retina. In
CC       normal eyes, found in the inner uveal meshwork region and the
CC       anterior portion of the meshwork. In contrast, in many
CC       glaucomatous eyes, it is found in more regions of the meshwork and
CC       appeared more intensively than in normal eyes, regardless of the
CC       type or clinical severity of glaucoma.
CC   -!- PTM: Different isoforms may arise by post-translational
CC       modifications.
CC   -!- PTM: Glycosylated.
CC   -!- DISEASE: Defects in MYOC are the cause of primary open angle
CC       glaucoma type 1A (GLC1A) [MIM:137750]. Primary open angle glaucoma
CC       (POAG) is characterized by a specific pattern of optic nerve and
CC       visual field defects. The angle of the anterior chamber of the eye
CC       is open, and usually the intraocular pressure is increased. The
CC       disease is asymptomatic until the late stages, by which time
CC       significant and irreversible optic nerve damage has already taken
CC       place.
CC   -!- SIMILARITY: Contains 1 olfactomedin-like domain.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.genetests.org/query?gene=MYOC";
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DR   EMBL; U85257; AAC52051.1; -; mRNA.
DR   EMBL; AF001620; AAC51725.1; -; mRNA.
DR   EMBL; D88214; BAA23531.1; -; mRNA.
DR   EMBL; Z97171; CAB09899.1; -; Genomic_DNA.
DR   EMBL; Z97177; CAB09899.1; JOINED; Genomic_DNA.
DR   EMBL; Z97174; CAB09899.1; JOINED; Genomic_DNA.
DR   EMBL; AF049793; AAC14264.1; -; Genomic_DNA.
DR   EMBL; AF049791; AAC14264.1; JOINED; Genomic_DNA.
DR   EMBL; AF049792; AAC14264.1; JOINED; Genomic_DNA.
DR   EMBL; AB006688; BAA24532.1; ALT_INIT; Genomic_DNA.
DR   EMBL; Z98750; CAD92590.2; -; Genomic_DNA.
DR   EMBL; BC029261; AAH29261.1; -; mRNA.
DR   PIR; JC5830; JC5830.
DR   RefSeq; NP_000252.1; -.
DR   UniGene; Hs.436037; -.
DR   Ensembl; ENSG00000034971; Homo sapiens.
DR   GeneID; 4653; -.
DR   KEGG; hsa:4653; -.
DR   H-InvDB; HIX0001330; -.
DR   HGNC; HGNC:7610; MYOC.
DR   MIM; 137750; phenotype.
DR   MIM; 601652; gene.
DR   Orphanet; 359; Glaucoma hereditary.
DR   PharmGKB; PA31415; -.
DR   HOGENOM; Q99972; -.
DR   HOVERGEN; Q99972; -.
DR   ArrayExpress; Q99972; -.
DR   CleanEx; HS_MYOC; -.
DR   GermOnline; ENSG00000034971; Homo sapiens.
DR   GO; GO:0005615; C:extracellular space; IDA:MGI.
DR   GO; GO:0005198; F:structural molecule activity; TAS:ProtInc.
DR   GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR   InterPro; IPR003924; GPCR_2_latrophilin.
DR   InterPro; IPR003112; Olfac_like.
DR   Pfam; PF02191; OLF; 1.
DR   PRINTS; PR01444; LATROPHILIN.
DR   SMART; SM00284; OLF; 1.
DR   PROSITE; PS51132; OLF; 1.
PE   1: Evidence at protein level;
KW   Cell projection; Cilium; Coiled coil; Direct protein sequencing;
KW   Disease mutation; Endoplasmic reticulum; Glaucoma; Glycoprotein;
KW   Polymorphism; Secreted; Signal.
FT   SIGNAL        1     32       Potential.
FT   CHAIN        33    504       Myocilin.
FT                                /FTId=PRO_0000020084.
FT   DOMAIN      244    503       Olfactomedin-like.
FT   COILED       74    184       Potential.
FT   MOTIF       502    504       Microbody targeting signal (Potential).
FT   CARBOHYD     57     57       N-linked (GlcNAc...) (Probable).
FT   DISULFID    245    433
FT   VARIANT       4      4       F -> S.
FT                                /FTId=VAR_009665.
FT   VARIANT       9      9       C -> S.
FT                                /FTId=VAR_009666.
FT   VARIANT      12     12       G -> R.
FT                                /FTId=VAR_009667.
FT   VARIANT      19     19       Q -> H (in dbSNP:rs2234925).
FT                                /FTId=VAR_009668.
FT   VARIANT      53     53       V -> A (in GLC1A).
FT                                /FTId=VAR_008969.
FT   VARIANT      73     73       N -> S.
FT                                /FTId=VAR_009669.
FT   VARIANT      76     76       R -> K (in dbSNP:rs2234926).
FT                                /FTId=VAR_009670.
FT   VARIANT      82     82       R -> C (in GLC1A).
FT                                /FTId=VAR_009671.
FT   VARIANT      82     82       R -> H.
FT                                /FTId=VAR_009672.
FT   VARIANT     189    189       R -> Q.
FT                                /FTId=VAR_009673.
FT   VARIANT     203    203       S -> F.
FT                                /FTId=VAR_009674.
FT   VARIANT     208    208       D -> E (in dbSNP:rs2234927).
FT                                /FTId=VAR_014943.
FT   VARIANT     246    246       G -> R (in GLC1A).
FT                                /FTId=VAR_005468.
FT   VARIANT     286    286       W -> R (in GLC1A).
FT                                /FTId=VAR_009675.
FT   VARIANT     293    293       T -> K (in GLC1A).
FT                                /FTId=VAR_009676.
FT   VARIANT     329    329       V -> M.
FT                                /FTId=VAR_009677.
FT   VARIANT     337    337       Q -> R (in GLC1A).
FT                                /FTId=VAR_005469.
FT   VARIANT     352    352       E -> K (in GLC1A; could be a rare
FT                                polymorphism).
FT                                /FTId=VAR_009678.
FT   VARIANT     353    353       T -> I (in GLC1A).
FT                                /FTId=VAR_009679.
FT   VARIANT     361    361       P -> S (in GLC1A).
FT                                /FTId=VAR_009680.
FT   VARIANT     364    364       G -> V (in GLC1A).
FT                                /FTId=VAR_005470.
FT   VARIANT     367    367       G -> R (in GLC1A).
FT                                /FTId=VAR_005471.
FT   VARIANT     370    370       P -> L (in GLC1A; severe form).
FT                                /FTId=VAR_005472.
FT   VARIANT     377    377       T -> M (in GLC1A).
FT                                /FTId=VAR_009681.
FT   VARIANT     380    380       D -> A (in GLC1A; incomplete penetrance).
FT                                /FTId=VAR_009682.
FT   VARIANT     380    380       D -> G (in GLC1A).
FT                                /FTId=VAR_009683.
FT   VARIANT     393    393       S -> R (in GLC1A).
FT                                /FTId=VAR_009684.
FT   VARIANT     398    398       K -> R.
FT                                /FTId=VAR_009685.
FT   VARIANT     402    402       V -> I.
FT                                /FTId=VAR_009686.
FT   VARIANT     422    422       R -> C.
FT                                /FTId=VAR_009687.
FT   VARIANT     422    422       R -> H (in GLC1A).
FT                                /FTId=VAR_009688.
FT   VARIANT     423    423       K -> E (in GLC1A; heterozygote specific
FT                                phenotype).
FT                                /FTId=VAR_009689.
FT   VARIANT     425    425       S -> P.
FT                                /FTId=VAR_009690.
FT   VARIANT     426    426       V -> F (in GLC1A).
FT                                /FTId=VAR_005473.
FT   VARIANT     433    433       C -> R (in GLC1A; severe form).
FT                                /FTId=VAR_008970.
FT   VARIANT     437    437       Y -> H (in GLC1A).
FT                                /FTId=VAR_005474.
FT   VARIANT     445    445       A -> V (in GLC1A).
FT                                /FTId=VAR_009691.
FT   VARIANT     465    465       I -> M (in GLC1A).
FT                                /FTId=VAR_009692.
FT   VARIANT     470    470       R -> C (in GLC1A).
FT                                /FTId=VAR_009693.
FT   VARIANT     473    473       Y -> C.
FT                                /FTId=VAR_009694.
FT   VARIANT     477    477       I -> N (in GLC1A).
FT                                /FTId=VAR_009695.
FT   VARIANT     477    477       I -> S (in GLC1A).
FT                                /FTId=VAR_005475.
FT   VARIANT     480    480       N -> K (in GLC1A).
FT                                /FTId=VAR_005476.
FT   VARIANT     481    481       P -> L (in GLC1A).
FT                                /FTId=VAR_009696.
FT   VARIANT     481    481       P -> T (in GLC1A).
FT                                /FTId=VAR_009697.
FT   VARIANT     495    495       V -> I.
FT                                /FTId=VAR_009698.
FT   VARIANT     499    499       I -> F (in GLC1A).
FT                                /FTId=VAR_005477.
FT   VARIANT     500    500       K -> R.
FT                                /FTId=VAR_009699.
FT   VARIANT     502    502       S -> P (in GLC1A).
FT                                /FTId=VAR_009700.
FT   MUTAGEN      57     57       N->S: Loss of higher molecular weight
FT                                isoform.
SQ   SEQUENCE   504 AA;  56972 MW;  9588C04F1D227623 CRC64;
     MRFFCARCCS FGPEMPAVQL LLLACLVWDV GARTAQLRKA NDQSGRCQYT FSVASPNESS
     CPEQSQAMSV IHNLQRDSST QRLDLEATKA RLSSLESLLH QLTLDQAARP QETQEGLQRE
     LGTLRRERDQ LETQTRELET AYSNLLRDKS VLEEEKKRLR QENENLARRL ESSSQEVARL
     RRGQCPQTRD TARAVPPGSR EVSTWNLDTL AFQELKSELT EVPASRILKE SPSGYLRSGE
     GDTGCGELVW VGEPLTLRTA ETITGKYGVW MRDPKPTYPY TQETTWRIDT VGTDVRQVFE
     YDLISQFMQG YPSKVHILPR PLESTGAVVY SGSLYFQGAE SRTVIRYELN TETVKAEKEI
     PGAGYHGQFP YSWGGYTDID LAVDEAGLWV IYSTDEAKGA IVLSKLNPEN LELEQTWETN
     IRKQSVANAF IICGTLYTVS SYTSADATVN FAYDTGTGIS KTLTIPFKNR YKYSSMIDYN
     PLEKKLFAWD NLNMVTYDIK LSKM
//
