D59A (p.Asp59Ala) variant of UMOD (Uromodulin)

Name: UMOD D59A (p.Asp59Ala) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

D59A (p.Asp59Ala) 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.

D59A (p.Asp59Ala) variant details

p.Asp59Ala
UniProt VAR 073053
Pathogenic
in ADTKD1
Missense
EBI: Pathogenic (in ADTKD1)
UniProt: Pathogenic (in ADTKD1)
Structural context available
Cited in: A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of… (PMID 14569098)
Cited in: Defective intracellular trafficking of uromodulin mutant isoforms. (PMID 17010121)