M34K (p.Met34Lys) variant of GJB1 (Gap junction beta-1 protein)
M34K (p.Met34Lys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. The record also includes published literature and structural context.
M34K (p.Met34Lys) variant details
- p.Met34Lys
- rs1060500998
- ClinGen CA413500927
- ClinVar RCV000789899
- Ensembl rs1060500998
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth… (PMID 10737979)
- Cited in: Diverse trafficking abnormalities of connexin32 mutants causing CMTX. (PMID 12460545)