R206H (p.Arg206His) variant of ACVR1 (Activin receptor type-1)
R206H (p.Arg206His) 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 Inborn genetic diseases; not provided; Progressive myositis ossificans. The record also includes published literature and structural context.
R206H (p.Arg206His) variant details
- p.Arg206His
- rs121912678
- ClinGen CA128036
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55115
- Pathogenic
- Inborn genetic diseases; not provided; Progressive myositis ossificans
- Missense
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Progressive myositis ossi)
- EBI: Pathogenic (in FOP)
- UniProt: Pathogenic (in FOP)
- Structural context available
- Cited in: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans… (PMID 16642017)
- Cited in: De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. (PMID 17077940)