Variant position: 375 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 LPQNDLLGHPMTRAFITHAG SHGVYESICNGVPMVMMPLFG
Mouse LPQNDLLGHPKTRAFITHSG SHGIYEGICNGVPMVMMPLFG
Rat LPQNDLLGHPKARAFITHSG SHGIYEGICNGVPMVMMPLFG
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
Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.
Bosma P.J.; Chowdhury J.R.; Huang T.-J.; Lahiri P.; Elferink R.P.J.O.; van Es H.H.G.; Lederstein M.; Whitington P.F.; Jansen P.L.M.; Chowdhury N.R.;
FASEB J. 6:2859-2863(1992)
Cited for: VARIANT CN1 PHE-375;
Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.
Erps L.T.; Ritter J.K.; Hersh J.H.; Blossom D.; Martin N.C.; Owens I.S.;
J. Clin. Invest. 93:564-570(1994)
Cited for: VARIANTS CN1 GLU-308 AND PHE-375; CHARACTERIZATION OF VARIANTS CN1 GLU-308 AND PHE-375;
Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
Seppen J.; Bosma P.J.; Goldhoorn B.G.; Bakker C.T.M.; Roy Chowdhury J.; Roy Chowdhury N.; Jansen P.L.M.; Oude Elferink R.P.J.;
J. Clin. Invest. 94:2385-2391(1994)
Cited for: VARIANTS CN1 PHE-170 DEL; ARG-177; ARG-276 AND PHE-375; VARIANTS CN2 GLN-175 AND TRP-209;
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;
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
Servedio V.; d'Apolito M.; Maiorano N.; Minuti B.; Torricelli F.; Ronchi F.; Zancan L.; Perrotta S.; Vajro P.; Boschetto L.; Iolascon A.;
Hum. Mutat. 25:325-325(2005)
Cited for: VARIANTS CN1 GLN-336; ARG-357; PHE-375; SER-387 AND VAL-395; VARIANTS CN2 GLN-34; PHE-170 DEL; TRP-209; GLY-225; LEU-336; TRP-336; ARG-354; CYS-403 AND ASP-478; VARIANTS CN1/CN2 VAL-377 AND ARG-461;
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.