Application | Comment | Organism |
---|---|---|
medicine | mutations N370S and L444P are the most prevalent among patients with Gaucher disease. Two missense changes S356F, L296V are associated with the severe phenotype of type 1 Gaucher disease. Mutation 303e305delCAC was identified in a homozygous state in one patient type 1 or type 3 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
303-305delCAC | mutation identified in a homozygous state in one patient of Gaucher disease type 1 or 3 | Homo sapiens |
L296V | mutation associated with the severe phenotype of type 1 Gaucher disease | Homo sapiens |
L444P | mutation responsible for Gaucher disease in 42% of patients tested | Homo sapiens |
N370S | mutation responsible for Gaucher disease in 30% of patients tested | Homo sapiens |
S356F | mutation associated with the severe phenotype of type 1 Gaucher disease | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Turkish patients with Gaucher disease | - |