C276Y (p.Cys276Tyr) variant of FHL1 (Q13642)
C276Y (p.Cys276Tyr) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked myopathy with postural muscle atrophy. The record also includes published literature and structural context.
C276Y (p.Cys276Tyr) variant details
- p.Cys276Tyr
- UniProt VAR 075358
- Pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- ClinVar: Pathogenic (X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic (in EDMD6)
- UniProt: Pathogenic (in EDMD6)
- Structural context available
- Cited in: Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. (PMID 19716112)
- Cited in: Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. (PMID 20186852)