P34Q (p.Pro34Gln) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
P34Q (p.Pro34Gln) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CN2. The record also includes variant effect predictions, published literature, and structural context.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- UniProt VAR 026134
- Pathogenic
- in CN2
- Missense
- SIFT 0.00
- EBI: Pathogenic (in CN2)
- UniProt: Pathogenic (in CN2)
- Structural context available
- Cited in: Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and… (PMID 15712364)
- Cited in: Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and… (PMID 11013440)