S26L (p.Ser26Leu) variant of GJB1 (Gap junction beta-1 protein)
S26L (p.Ser26Leu) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMTX1. The record also includes published literature and structural context.
S26L (p.Ser26Leu) variant details
- p.Ser26Leu
- rs587777876
- ClinGen CA270646
- ClinVar RCV000143795
- ClinVar RCV000437610
- Pathogenic
- in CMTX1
- Missense
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ… (PMID 12477701)
- Cited in: Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families. (PMID 8889588)