L89P (p.Leu89Pro) variant of GJB1 (Gap junction beta-1 protein)
L89P (p.Leu89Pro) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth Neuropathy X; not provided. The record also includes published literature and structural context.
L89P (p.Leu89Pro) variant details
- p.Leu89Pro
- rs1555937122
- ClinGen CA413501709
- ClinVar RCV000516283
- ClinVar RCV000552811
- Pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). (PMID 9099841)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)