L131P (p.Leu131Pro) variant of GJB1 (Gap junction beta-1 protein)
L131P (p.Leu131Pro) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant. The record also includes published literature and structural context.
L131P (p.Leu131Pro) variant details
- p.Leu131Pro
- rs1555937166
- ClinGen CA413502149
- ClinVar RCV000698825
- ClinVar RCV000789284
- Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. (PMID 9818870)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)