L132V (p.Leu132Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
L132V (p.Leu132Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MECD1. The record also includes published literature and structural context.
L132V (p.Leu132Val) variant details
- p.Leu132Val
- UniProt VAR 083313
- Pathogenic
- in MECD1
- Missense
- EBI: Pathogenic (in MECD1)
- UniProt: Pathogenic (in MECD1)
- Structural context available
- Cited in: In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy. (PMID 30535821)
- Cited in: A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (PMID 10612503)