UniProtKB/Swiss-Prot P22309: Variant p.Gly71Arg

UDP-glucuronosyltransferase 1-1
Gene: UGT1A1
Chromosomal location: 2q37
Variant information

Variant position:  71
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Arginine (R) at position 71 (G71R, p.Gly71Arg).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CN2, GILBS and HBLRTFN; has significant residual bilirubin glucuronidation activity of about 25% to 50% of that of the wild-type protein; displays no change in biluribin affinity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  71
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:   QQRGHEIVVLAPDASLYIRD  G AFYTLKTYPVPFQREDVKES
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                         QQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKES

Mouse                         QQKGHEVVVIAPEASIHIKEGSFYTLRKFPVPFQKENVTAT

Rat                           QQKGHEVVVIAPEASIHIKEGSFYTMRKYPVPFQNENVTAA

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.

TypePositionsDescription
Chain 26 – 533 UDP-glucuronosyltransferase 1-1


Literature citations

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; CATALYTIC ACTIVITY; KINETIC PARAMETERS; SUBSTRATE SPECIFICITY; CHARACTERIZATION OF VARIANTS CN2 ARG-71; LEU-83; GLN-229 AND ASP-486;

Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.
Sneitz N.; Bakker C.T.; de Knegt R.J.; Halley D.J.; Finel M.; Bosma P.J.;
Hum. Mutat. 31:52-59(2010)
Cited for: FUNCTION; SUBSTRATE SPECIFICITY; VARIANT CN1 THR-402; VARIANTS CN2 ARG-15; ARG-71; PHE-191; TRP-209; TRP-336; HIS-387; PRO-443 AND ASP-486; CHARACTERIZATION OF VARIANT CN1 THR-402; CHARACTERIZATION OF VARIANTS CN2 ARG-71; GLN-175; PHE-191; TRP-209; ARG-331; TRP-336; HIS-387; VAL-395 AND PRO-443;

Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.
Aono S.; Yamada Y.; Keino H.; Hanada N.; Nakagawa T.; Sasaoka Y.; Yazawa T.; Sato H.; Koiwai O.;
Biochem. Biophys. Res. Commun. 197:1239-1244(1993)
Cited for: VARIANTS CN2 ARG-71 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.;
Lancet 345:958-959(1995)
Cited for: VARIANTS GILBS ARG-71; GLN-229 AND GLY-367;

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;

Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene.
Maruo Y.; Nishizawa K.; Sato H.; Sawa H.; Shimada M.;
Pediatrics 106:E59-E59(2000)
Cited for: VARIANTS HBLRTFN ARG-71 AND ASP-486;

Disclaimer: 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.