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Published on: May 15, 2018
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene
Fernanda R O Calderon1, Amit R Phansalkar, David K Crockett
1Associated Regional and University Pathologists (ARUP) Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA.
Human Mutation
|May 9, 2007
Summary
A database catalogs all known sequence variations in the galactose-1-phosphate uridyltransferase (GALT) gene, aiding research into classical galactosemia. It details mutations and polymorphisms, serving as a vital resource for clinical laboratories.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Classical galactosemia is an inherited metabolic disorder.
- It results from mutations in the galactose-1-phosphate uridyltransferase (GALT) gene.
- A comprehensive database for GALT gene variants is essential for research and clinical diagnostics.
Purpose of the Study:
- To create and maintain a disease-specific database of all reported sequence variants in the GALT gene.
- To provide a centralized, verified repository of GALT mutations and polymorphisms.
- To support clinical laboratories and researchers studying galactosemia.
Main Methods:
- Compilation of all published GALT sequence variants.
- Verification of variant positions and nomenclature.
- Inclusion of variant classifications (mutation, polymorphism, unknown significance), protein effects, and links to publications.
- Description of unpublished variants with supporting clinical data.
Main Results:
- The database contains 229 GALT sequence variants: 196 mutations (9 novel) and 31 polymorphisms.
- Variants are classified, annotated with protein effects, and linked to literature.
- The database includes features for querying, submitting new variations, and accessing galactosemia-related information.
Conclusions:
- The GALT gene variant database is a valuable, free online resource for the scientific and clinical community.
- It facilitates the study and diagnosis of classical galactosemia.
- The database serves as a dynamic repository, updated with new findings.
