Variant position: 229 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 533 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RVKNMLIAFSQNFLCDVVYS PYATLASEFLQREVTVQDLLS
Mouse RVKNVLLAVSENFMCRVVYS PYGSLATEILQKEVTVQDLLS
Rat RVKNMIIALTENFLCRVVYS PYGSLATEILQKEVTVKDLLS
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
26 – 533 UDP-glucuronosyltransferase 1A1
229 – 229 P -> Q. Decreased SN-38 glucuronosyltransferase activity.
233 – 233 L -> R. Decreased SN-38 glucuronosyltransferase activity.
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates.
Udomuksorn W.; Elliot D.J.; Lewis B.C.; Mackenzie P.I.; Yoovathaworn K.; Miners J.O.;
Pharmacogenet. Genomics 17:1017-1029(2007)
Cited for: FUNCTION (ISOFORM 1); CATALYTIC ACTIVITY; KINETIC PARAMETERS; SUBSTRATE SPECIFICITY; CHARACTERIZATION OF VARIANTS CN2 ARG-71; LEU-83; GLN-229 AND ASP-486;
Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.
Aono S.; Adachi Y.; Uyama E.; Yamada Y.; Keino H.; Nanno T.; Koiwai O.; Sato H.;
Cited for: VARIANTS GILBS ARG-71; GLN-229 AND GLY-367; INVOLVEMENT IN GILBS;
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.
Yamamoto K.; Soeda Y.; Kamisako T.; Hosaka H.; Fukano M.; Sato H.; Fujiyama Y.; Dachi Y.; Satoh Y.; Bamba T.;
J. Hum. Genet. 43:111-114(1998)
Cited for: VARIANTS CN2 ARG-71; TRP-209; GLN-229 AND ASP-486;
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
Kadakol A.; Ghosh S.S.; Sappal B.S.; Sharma G.; Chowdhury J.R.; Chowdhury N.R.;
Hum. Mutat. 16:297-306(2000)
Cited for: VARIANTS CN1 ASP-39; PHE-170 DEL; ARG-177; ARG-276; VAL-291; GLU-308; TRP-336; ARG-357; THR-368; PHE-375; ARG-381; SER-387; PRO-401 AND GLU-428; VARIANTS CN2 ARG-15; GLN-175; TRP-209; GLY-225 AND ARG-331; VARIANTS GILBS ARG-71; GLN-229; THR-294; GLY-367 AND ASP-486;
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