UniProtKB/Swiss-Prot P19224: Variant p.Ala510Pro

UDP-glucuronosyltransferase 1-6
Gene: UGT1A6
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Variant information Variant position:

510 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Alanine (A) to Proline (P) at position 510 (A510P, p.Ala510Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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:

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:

Links to websites of interest for the variant.

Variant rs1042709 [ dbSNP | Ensembl ]

Sequence information Variant position:

510 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

532 The length of the canonical sequence.
Location on the sequence:

VIGFLLAVVLTVAFITFKCC A YGYRKCLGKKGRVKKAHKSK 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                         VIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSK

Mouse                         VIGFLLAIVLTVVFIVFKCCAYGCRKCFGGKGRVKKSHKSK

Rat                           VIGFLLAIVLTVVFIVYKSCAYGCRKCFGGKGRVKKSHKSK

Rabbit                        VIGFLLAIVLTVAFVTFKCCAFAWGKCFGKKGRVKKAHKSK

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
Chain	27 – 532	UDP-glucuronosyltransferase 1-6
Alternative sequence	434 – 532	SYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH -> RKKQQSGRQM. In isoform 3.

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.