G328E (p.Gly328Glu) variant of ACVR1 (Activin receptor type-1)
G328E (p.Gly328Glu) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Progressive myositis ossificans. The record also includes published literature and structural context.
G328E (p.Gly328Glu) variant details
- p.Gly328Glu
- rs387906589
- ClinGen CA128482
- cosmic curated COSV55115
- ClinVar RCV000022432
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Progressive myositis ossificans
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Progressive myositis ossi)
- EBI: Pathogenic (in FOP)
- UniProt: Pathogenic (in FOP)
- Structural context available
- Cited in: Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone… (PMID 19085907)
- Cited in: Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. (PMID 19330033)