Y31H (p.Tyr31His) variant of AICDA (Q9GZX7)
Y31H (p.Tyr31His) in AICDA (Q9GZX7) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HIGM2. The record also includes published literature and structural context.
Y31H (p.Tyr31His) variant details
- p.Tyr31His
- UniProt VAR 077564
- Pathogenic
- in HIGM2
- Missense
- EBI: Pathogenic (in HIGM2)
- UniProt: Pathogenic (in HIGM2)
- Structural context available
- Cited in: Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. (PMID 26545377)
- Cited in: Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome… (PMID 11007475)