UniProtKB/Swiss-Prot P19224: Variant p.Ser7Ala

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

7 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 Serine (S) to Alanine (A) at position 7 (S7A, p.Ser7Ala). 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 polar (S) to small size and hydrophobic (A) 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.
Variant description:

In allele UGT1A6*2, allele UGT1A6*3 and allele UGT1A6*4. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs6759892 [ dbSNP | Ensembl ]

Sequence information Variant position:

7 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:

MACLLR S FQRISAGVFFLALWGMVVGD 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                         MACLLRSFQRISAGVFFLALWGMVVGD

Mouse                         MACLLPAAQTLPAGFLFLVLWASVLGD

Rat                           MACLLPAA-RLPAGFLFLVLWGSVLGD

Rabbit                        MACLLSAAQRASAGVLFVALWGTVLGD

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
Signal peptide	1 – 26
Alternative sequence	1 – 267	Missing. In isoform 2.

Literature citations
Human UGT1A6 pharmacogenetics: identification of a novel SNP, characterization of allele frequencies and functional analysis of recombinant allozymes in human liver tissue and in cultured cells.
Nagar S.; Zalatoris J.J.; Blanchard R.L.;
Pharmacogenetics 14:487-499(2004)
Cited for: VARIANTS ALA-7; ALA-181 AND SER-184;

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.