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UniProtKB/Swiss-Prot P22309: Variant p.Arg209Trp

UDP-glucuronosyltransferase 1A1
Gene: UGT1A1
Variant information

Variant position:  209
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Tryptophan (W) at position 209 (R209W, p.Arg209Trp).
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 large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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; has low residual bilirubin glucuronidation activity of about 2.9% of that of the wild-type protein.
Any additional useful information about the variant.

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



Sequence information

Variant position:  209
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:   PFSYVPRPLSSHSDHMTFLQ  R VKNMLIAFSQNFLCDVVYSP
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                         PFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSP

Mouse                         PLSYVPKSLSFNSDRMNFLQRVKNVLLAVSENFMCRVVYSP

Rat                           PLSYVPKSLSSNTDRMNFLQRVKNMIIALTENFLCRVVYSP

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 1A1
Mutagenesis 229 – 229 P -> Q. Decreased SN-38 glucuronosyltransferase activity.


Literature citations

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;

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;

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;

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: 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; CATALYTIC ACTIVITY; FUNCTION; SUBSTRATE SPECIFICITY;

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.