F373A (p.Phe373Ala) variant of FOXP3 (Forkhead box protein P3)
F373A (p.Phe373Ala) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The record also includes published literature and structural context.
F373A (p.Phe373Ala) variant details
- p.Phe373Ala
- rs122467172
- ClinGen CA255865
- ClinVar RCV000012168
- UniProt VAR 078975
- Pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- ClinVar: Pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Pathogenic (in IPEX)
- UniProt: Pathogenic (in IPEX)
- Structural context available
- Cited in: Defective regulatory and effector T cell functions in patients with FOXP3 mutations. (PMID 16741580)
- Cited in: Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy… (PMID 18951619)