Application | Comment | Organism |
---|---|---|
medicine | mutation H231Q occurs in three patients belonging to a consanguineous family with late-infantile metachromatic leukodystrophy disorder MLD. The mutation leads to changes in the pre-mRNA secondary structure and in the ArsA protein structure | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
H231Q | mutation identified in three patients belonging to a consanguineous family with late-infantile metachromatic leukodystrophy disorder MLD. The mutation leads to changes in the pre-mRNA secondary structure and in the ArsA protein structure | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P15289 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
ARSA | - |
Homo sapiens |