Variant position: 428 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 GAGVTLNVLEMTSEDLENAL KAVINDKSYKENIMRLSSLHK
Mouse GAGVTLNVLEMTADDLENAL KTVINNKSYKENIMRLSSLHK
Rat GAGVTLNVLEMTADDLENAL KTVINNKSYKENIMRLSSLHK
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 1-1
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.
Labrune P.; Myara A.; Hadchouel M.; Ronchi F.; Bernard O.; Trivin F.; Roy Chowdhury N.; Roy Chowdhury J.; Munnich A.; Odievre M.;
Hum. Genet. 94:693-697(1994)
Cited for: VARIANTS CN1 VAL-292; GLU-308; ARG-357; THR-368; ARG-381; PRO-401 AND GLU-428;
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;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.