UniProtKB/Swiss-Prot Q9HAW7: Variant p.Trp208Arg

UDP-glucuronosyltransferase 1-7
Gene: UGT1A7
Chromosomal location: 2q37
Variant information

Variant position:  208
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Tryptophan (W) to Arginine (R) at position 208 (W208R, p.Trp208Arg).
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 aromatic (W) to large size and basic (R)
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

Polymorphism:  There are four common allelic UGT1A7 variants which exhibit significant differences in catalytic activity towards 3-, 7-, and 9-hydroxy-benzo(a)pyrene. UGT1A7*3 exhibits a 5.8-fold lower relative Vmax compared to UGT1A7*1, whereas UGT1A7*2 and UGT1A7*4 have a 2.6- and 2.8-fold lower relative Vmax than UGT1A7*1, respectively, suggesting that these mutations confer slow glucuronidation phenotype.
Additional information on the polymorphism described.

Variant description:  In allele UGT1A7*3 and allele UGT1A7*4.
Any additional useful information about the variant.

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



Sequence information

Variant position:  208
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  530
The length of the canonical sequence.

Location on the sequence:   SYVPRLLLGFSDAMTFKERV  W NHIMHLEEHLFCPYFFKNVL
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.

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 – 530 UDP-glucuronosyltransferase 1-7


Literature citations

Thirteen UDP-glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus.
Gong Q.H.; Cho J.W.; Huang T.; Potter C.; Gholami N.; Basu N.K.; Kubota S.; Carvalho S.; Pennington M.W.; Owens I.S.; Popescu N.C.;
Pharmacogenetics 11:357-368(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LYS-129; LYS-131 AND ARG-208;

Structural heterogeneity at the UDP-glucuronosyltransferase 1 locus: functional consequences of three novel missense mutations in the human UGT1A7 gene.
Guillemette C.; Ritter J.K.; Auyeung D.J.; Kessler F.K.; Housman D.E.;
Pharmacogenetics 10:629-644(2000)
Cited for: VARIANTS LYS-129; LYS-131 AND ARG-208; CHARACTERIZATION OF ALLELES;

Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population.
Menard V.; Girard H.; Harvey M.; Perusse L.; Guillemette C.;
Hum. Mutat. 30:677-687(2009)
Cited for: VARIANTS LYS-129; LYS-131 AND ARG-208;

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.