Documentation - TraceGD


version 1.0
 

Introduction


Every living organism has its own genetic material, which is indispensable for their living. Usually DNA (deoxy Ribonucleic acid) serves the primary role of carrying genetic characteristics from parents to future generations.


They contain genes on them, which code for proteins, which in turn help to make every individual distinguishable from every other. If these genes are mutated, then structurally and/or functionally damaged proteins are formed. Their non-functionality or malfunctionality causes genetic disorders.

               There are several genetic disorders which are caused by defects in single gene whereas some are the result of damage in more than one gene. The types of mutations are :

                    1. Point mutation (single base substitution, deletion or  insertion)                  

                    2. Substitution, deletion or insertion over a range. (top )


Input Tab


This is the first tab named as "Input".
Here, user can choose the protein sequence and paste the protein sequence.


(top )


Alignment Tab


The second tab is named as "Alignment".
Here, user can look at the normal and user sequence aligned.
One can view the mutations here. A Colour Help box is provided to know the type of mutation


(top )


Result Tab


The third one is "Result" tab.
Here, position of mutation, original and mutated amino acids, type of mutation and disease caused by the mutation are shown.


(top )


About the proteins used


Five proteins are taken for online use : 

1.  Phenylalanine-4-hydroxylase (PAH)

    Diseases

      Phenylketonuria(PKU)
      Non-Phenylketonuria Hyperphenylalaninemia (Non-PKU HPA)
      Hyperphenylalaninemia(HPA)



				
2.  Coagulation factor VIII precursor(FA8)


				   
    Diseases

      Hemophilia A (HEMA)




				
3.  Cystic fibrosis transmembrane conductance regulator (CFTR)


				   
    Diseases

      cystic fibrosis (CF)
    Congenital bilateral absence of the vas deferens (CBAVD)




				
4.  Sodium/glucose cotransporter 1(SC5A1)


				   
    Diseases

    glucose/galactose malabsorption (GGM)
 


				
5.  Myocilin precursor(MYOC)


				   
    Diseases

      glaucoma type 1A (GLC1A)





				(top )