Y61S (p.Tyr61Ser) variant of GCK (Hexokinase-4)
Y61S (p.Tyr61Ser) in GCK (Hexokinase-4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MODY2. The record also includes published literature and structural context.
Y61S (p.Tyr61Ser) variant details
- p.Tyr61Ser
- UniProt VAR 079439
- Pathogenic
- in MODY2
- Missense
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. (PMID 17573900)
- Cited in: Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young… (PMID 18322640)