I290M (p.Ile290Met) variant of CLCN1 (Chloride channel protein 1)
I290M (p.Ile290Met) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CLCN1-related disorder; Congenital myotonia, autosomal dominant form; Congenital. The record also includes published literature and structural context.
I290M (p.Ile290Met) variant details
- p.Ile290Met
- rs80356690
- ClinGen CA258020
- ClinVar RCV000019091
- ClinVar RCV000020117
- Pathogenic
- CLCN1-related disorder; Congenital myotonia, autosomal dominant form; Congenital
- Missense
- ClinVar: Pathogenic (CLCN1-related disorder; Congenital myotonia, autosomal dominant)
- EBI: Pathogenic (in MCAD)
- UniProt: Pathogenic (in MCAD)
- Structural context available
- Cited in: The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and… (PMID 10051520)
- Cited in: Fast and slow gating relaxations in the muscle chloride channel CLC-1. (PMID 10962018)