L140Q (p.Leu140Gln) variant of KRT12 (Keratin, type I cytoskeletal 12)
L140Q (p.Leu140Gln) 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.
L140Q (p.Leu140Gln) variant details
- p.Leu140Gln
- UniProt VAR 072071
- Pathogenic
- in MECD1
- Missense
- EBI: Pathogenic (in MECD1)
- UniProt: Pathogenic (in MECD1)
- Structural context available
- Cited in: KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. (PMID 24099278)
- Cited in: A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (PMID 10612503)