C52W (p.Cys52Trp) variant of UMOD (Uromodulin)
C52W (p.Cys52Trp) in UMOD (Uromodulin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ADTKD1. The record also includes published literature and structural context.
C52W (p.Cys52Trp) variant details
- p.Cys52Trp
- UniProt VAR 073052
- Pathogenic
- in ADTKD1
- Missense
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. (PMID 15086896)
- Cited in: Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic… (PMID 12471200)