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UniProtKB/Swiss-Prot P50225: Variant p.Val223Met

Sulfotransferase 1A1
Gene: SULT1A1
Variant information

Variant position:  223
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 Valine (V) to Methionine (M) at position 223 (V223M, p.Val223Met).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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:  There are several alleles. The sequence shown is that of allele SULT1A1*3.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  223
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  295
The length of the canonical sequence.

Location on the sequence:   EIQKILEFVGRSLPEETVDF  V VQHTSFKEMKKNPMTNYTTV
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                         EIQKILEFVGRSLPEETVDFVVQHTSFKEMKKNPMTNYTTV

                              EIQKILKFVGRSLPEETVDLIVQHTSFKEMKNNSMANYTTL

Mouse                         EIKKILEFLGRSLPEETVDLIVHHTSFKKMKENPMANYTTI

Rat                           EIKKILEFLGRSLPEETVDSIVHHTSFKKMKENCMTNYTTI

Bovine                        EIQKILEFIGRSLPEETVDHIVQRTSFKEMKKNPMTNYSTI

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 1 – 295 Sulfotransferase 1A1
Helix 217 – 226


Literature citations

Identification of two human brain aryl sulfotransferase cDNAs.
Zhu X.; Veronese M.E.; Bernard C.C.; Sansom L.N.; McManus M.E.;
Biochem. Biophys. Res. Commun. 195:120-127(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-223;

Molecular characterisation of a human aryl sulfotransferase cDNA.
Zhu X.; Veronese M.E.; Sansom L.N.; McManus M.E.;
Biochem. Biophys. Res. Commun. 192:671-676(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-223;

Sequence analysis and expression of the cDNA for the phenol-sulfating form of human liver phenol sulfotransferase.
Wilborn T.W.; Comer K.A.; Dooley T.P.; Reardon I.M.; Heinrikson R.L.; Falany C.N.;
Mol. Pharmacol. 43:70-77(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; VARIANTS MET-223 AND LYS-282;

Structural similarity and diversity of sulfotransferases.
Yamazoe Y.; Nagata K.; Ozawa S.; Kato R.;
Chem. Biol. Interact. 92:107-117(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-223;

Molecular cloning of an isoform of phenol sulfotransferase from human brain hippocampus.
Hwang S.-R.; Kohn A.B.; Hook V.Y.H.;
Biochem. Biophys. Res. Commun. 207:701-707(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-223;

Human platelet phenolsulfotransferases: cDNA cloning, stable expression in V79 cells and identification of a novel allelic variant of the phenol-sulfating form.
Jones A.L.; Hagen M.; Coughtrie M.W.H.; Roberts R.C.; Glatt H.;
Biochem. Biophys. Res. Commun. 208:855-862(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-223;

Primary structures and properties of two related forms of aryl sulfotransferases in human liver.
Ozawa S.; Nagata K.; Shimada M.; Ueda M.; Tsuzuki T.; Yamazoe Y.; Kato R.;
Pharmacogenetics 5:S135-S140(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-223;

Genomic organization and DNA sequences of two human phenol sulfotransferase genes (STP1 and STP2) on the short arm of chromosome 16.
Dooley T.P.; Huang Z.;
Biochem. Biophys. Res. Commun. 228:134-140(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANT MET-223;

Human phenol sulfotransferase gene contains two alternative promoters: structure and expression of the gene.
Bernier F.; Soucy P.; Luu-The V.;
DNA Cell Biol. 15:367-375(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS MET-223 AND LYS-282;

A single amino acid, Glu146, governs the substrate specificity of a human dopamine sulfotransferase, SULT1A3.
Dajani R.; Hood A.M.; Coughtrie M.W.;
Mol. Pharmacol. 54:942-948(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-223;

Submission
Raftogianis R.B.; Her C.; Weinshilboum R.M.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANT MET-223;

Identification of immuno-peptidmics that are recognized by tumor-reactive CTL generated from TIL of colon cancer patients.
Shichijo S.; Itoh K.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS HIS-213 AND MET-223;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT MET-223;

Phenol sulfotransferase pharmacogenetics in humans: association of common SULT1A1 alleles with TS PST phenotype.
Raftogianis R.B.; Wood T.C.; Otterness D.M.; Van Loon J.A.; Weinshilboum R.M.;
Biochem. Biophys. Res. Commun. 239:298-304(1997)
Cited for: VARIANTS GLN-37; HIS-213 AND MET-223;

Initial characterization of the human central proteome.
Burkard T.R.; Planyavsky M.; Kaupe I.; Breitwieser F.P.; Buerckstuemmer T.; Bennett K.L.; Superti-Furga G.; Colinge J.;
BMC Syst. Biol. 5:17-17(2011)
Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-223; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.