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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P19224: Variant p.Ser70Tyr

UDP-glucuronosyltransferase 1-6
Gene: UGT1A6
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Variant information Variant position: help 70 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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: help From Serine (S) to Tyrosine (Y) at position 70 (S70Y, p.Ser70Tyr). 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: help Change from small size and polar (S) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Polymorphism: help Polymorphisms in the UGT1A6 gene define four common haplotypes: UGT1A6*1, UGT1A6*2, UGT1A6*3 and UGT1A6*4. Liver tissue samples that were homozygous for UGT1A6*2 exhibited a high rate of glucuronidation relative to tissues with other genotypes. Biochemical kinetic studies indicate that the UGT1A6*2 allozyme, expressed homozygously, had almost two-fold greater activity toward p-nitrophenol than UGT1A6*1 and when expressed heterozygously (UGT1A6*1/*2) it is associated with low enzyme activity. Common genetic variation in UGT1A6 confers functionally significant differences in biochemical phenotype. This genetic variation might impact clinical efficacy or toxicity of drugs metabolized by UGT1A6. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 70 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 532 The length of the canonical sequence.
Location on the sequence: help SDRGHEIVVVVPEVNLLLKE S KYYTRKIYPVPYDQEELKNR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         SDRGHEIVVVVPEVNLLLKESKYYTRKIYPVPYDQEELKNR

Mouse                         SERGHDIMVLVPEVNLLLGESKYYRRKIFSVTYSLEELQTR

Rat                           SERGHDIVVLVPEVNLLLGESKYYRRKSFPVPYNLEELRTR

Rabbit                        GARGHEIVVLVPEVNLLLRESRFYTRRIYPVPFDQEEQSYR

Sequence annotation in neighborhood: help 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 27 – 532 UDP-glucuronosyltransferase 1-6
Alternative sequence 1 – 267 Missing. In isoform 2.



Literature citations
A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini.
Ritter J.K.; Chen F.; Sheen Y.Y.; Tran H.M.; Kimura S.; Yeatman M.T.; Owens I.S.;
J. Biol. Chem. 267:3257-3261(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; TISSUE SPECIFICITY; VARIANTS TYR-70 AND PRO-510;
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.