Application | Comment | Organism |
---|---|---|
medicine | not all pathogenic GALT mutations are inherited and GALT may have a higher new mutation rate than previously believed. The variant Q188P is found in the compound heterozygous state in a child with classic galactosemia, but not in either of her parents. The patient inherited a common Q188R GALT mutation from the mother | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
Q188P | variant identified in a patient with classic galactosemia, introduces a missense substitution near the active site of the GALT enzyme. The variant is found in the compound heterozygous state in a child with classic galactosemia, but not in either of her parents. The patient inherited a common Q188R GALT mutation from the mother | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P07902 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
GALT | - |
Homo sapiens |