S115G (p.Ser115Gly) variant of TNFRSF1A (P19438)
S115G (p.Ser115Gly) in TNFRSF1A (P19438) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FPF. The record also includes published literature and structural context.
S115G (p.Ser115Gly) variant details
- p.Ser115Gly
- UniProt VAR 019331
- Pathogenic
- in FPF
- Missense
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Structural context available
- Cited in: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins… (PMID 11443543)
- Cited in: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly… (PMID 10199409)