A53S (p.Ala53Ser) variant of GCK (Hexokinase-4)
A53S (p.Ala53Ser) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The record also includes published literature and structural context.
A53S (p.Ala53Ser) variant details
- p.Ala53Ser
- UniProt VAR 010585
- Uncertain significance
- Monogenic diabetes
- Missense
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. (PMID 9049484)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)