Variant position: 83 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 DASLYIRDGAFYTLKTYPVP FQREDVKESFVSLGHNVFEND
Mouse EASIHIKEGSFYTLRKFPVP FQKENVTATLVELGRTAFNQD
Rat EASIHIKEGSFYTMRKYPVP FQNENVTAAFVELGRSVFDQD
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
102 – 102 N-linked (GlcNAc...) asparagine
71 – 71 G -> 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;
Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.
Sutomo R.; Laosombat V.; Sadewa A.H.; Yokoyama N.; Nakamura H.; Matsuo M.; Nishio H.;
Pediatr. Int. 44:427-432(2002)
Cited for: VARIANT GILBS LEU-83;
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