G356D (p.Gly356Asp) variant of ACVR1 (Activin receptor type-1)
G356D (p.Gly356Asp) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Progressive myositis ossificans. The record also includes published literature and structural context.
G356D (p.Gly356Asp) variant details
- p.Gly356Asp
- rs121912679
- ClinGen CA128037
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55117
- Pathogenic
- not provided; Progressive myositis ossificans
- Missense
- ClinVar: Pathogenic (not provided; Progressive myositis ossificans)
- EBI: Pathogenic (in FOP)
- UniProt: Pathogenic (in FOP)
- Structural context available
- Cited in: A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation… (PMID 18203193)
- Cited in: Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone… (PMID 19085907)