G253D (p.Gly253Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G253D (p.Gly253Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Osteogenesis imperfecta with normal sclerae, dominant form. The record also includes published literature and structural context.
G253D (p.Gly253Asp) variant details
- p.Gly253Asp
- rs72656385
- cosmic curated COSV51954
- UniProt VAR 063347
- Ensembl rs72656385
- Pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form
- Missense
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta with normal sclerae, domin)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Structural context available
- Cited in: Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. (PMID 16786509)
- Cited in: Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief… (PMID 10627137)