M113T (p.Met113Thr) variant of SOX9 (Transcription factor SOX-9)
M113T (p.Met113Thr) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Camptomelic dysplasia. The record also includes published literature and structural context.
M113T (p.Met113Thr) variant details
- p.Met113Thr
- UniProt VAR 063643
- Likely pathogenic
- Camptomelic dysplasia
- Missense
- ClinVar: Likely pathogenic (Camptomelic dysplasia)
- EBI: Pathogenic (in CMD1)
- UniProt: Pathogenic (in CMD1)
- Structural context available
- Cited in: Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with… (PMID 19921652)
- Cited in: Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (PMID 10446171)