L140R (p.Leu140Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
L140R (p.Leu140Arg) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Corneal dystrophy, Meesmann, 1. The record also includes published literature and structural context.
L140R (p.Leu140Arg) variant details
- p.Leu140Arg
- rs58918655
- Ensembl rs58918655
- ClinGen CA119162
- ClinVar RCV000008388
- Pathogenic
- Corneal dystrophy, Meesmann, 1
- Missense
- ClinVar: Pathogenic (Corneal dystrophy, Meesmann, 1)
- EBI: Pathogenic (in MECD1)
- UniProt: Pathogenic (in MECD1)
- Structural context available
- Cited in: Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in… (PMID 9399908)
- Cited in: A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (PMID 10612503)