UniProtKB/Swiss-Prot P50225: Variant p.Arg213His

Sulfotransferase 1A1
Gene: SULT1A1
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Variant information Variant position:

213 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 Arginine (R) to Histidine (H) at position 213 (R213H, p.Arg213His). 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 basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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.
Variant description:

In allele SULT1A1*2; has a lower sulfotransferase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1042028 [ dbSNP | Ensembl ]

Sequence information Variant position:

213 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:

YEDMKENPKREIQKILEFVG R SLPEETVDFVVQHTSFKEMK 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                         YEDMKENPKREIQKILEFVGRSLPEETVDFVVQHTSFKEMK

                              YEDMKENPKREIQKILKFVGRSLPEETVDLIVQHTSFKEMK

Mouse                         YEDMKENPKREIKKILEFLGRSLPEETVDLIVHHTSFKKMK

Rat                           YEDIKENPKREIKKILEFLGRSLPEETVDSIVHHTSFKKMK

Bovine                        YEDIKEDPKREIQKILEFIGRSLPEETVDHIVQRTSFKEMK

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	1 – 295	Sulfotransferase 1A1
Binding site	193 – 193

Literature citations
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; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT HIS-213; 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; Association between functional genetic polymorphisms of human sulfotransferases 1A1 and 1A2.
Engelke C.E.; Meinl W.; Boeing H.; Glatt H.;
Pharmacogenetics 10:163-169(2000)
Cited for: VARIANT HIS-213;

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.