S49P (p.Ser49Pro) variant of GJB1 (Gap junction beta-1 protein)
S49P (p.Ser49Pro) 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.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- rs116840817
- ClinGen CA341595
- ClinVar RCV000020170
- ClinVar RCV000789951
- Pathogenic
- in CMTX1
- Missense
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. (PMID 12207932)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)