UniProtKB/Swiss-Prot P07099: Variant p.Tyr113His

Epoxide hydrolase 1
Gene: EPHX1
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Variant information Variant position:

113 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 Tyrosine (Y) to Histidine (H) at position 113 (Y113H, p.Tyr113His). 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 aromatic (Y) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Variant description:

In allele EPHX1*3; benign; frequent in the human population; 55% of wild type enzyme activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1051740 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VISYWRNEFDWKKQVEILNR Y PHFKTKIEGLDIHFIHVKPP 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                         VISYWRNEFDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPP

Mouse                         VVSFWRNEFDWRKQVEILNQYPHFKTKIEGLDIHFIHVKPP

Rat                           VVSYWRNEFDWRKQVEILNQYPHFKTKIEGLDIHFIHVKPP

Pig                           IISYWRNTFDWRKQVEVLNKYPHFKTKIEGLDIHFIHVKPP

Rabbit                        ILSYWRHEFDWKKQVEILNSYPHFKTKIEGLDIHFIHVKPP

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 – 455	Epoxide hydrolase 1
Topological domain	22 – 455	Cytoplasmic

Literature citations
Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants.
Hassett C.; Aicher L.; Sidhu J.S.; Omiecinski C.J.;
Hum. Mol. Genet. 3:421-428(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS HIS-113; ARG-139 AND ILE-396; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-43; HIS-113; ARG-139; LEU-285; MET-408 AND GLN-452; Identification of 6 new polymorphisms, g.11177G>A, g.14622C>T (R49C), g.17540T>C, g.17639T>C, g.30929T>C, g.31074G>A (R454Q), in the human microsomal epoxide hydrolase gene (EPHX1) in a French population.
Belmahdi F.; Chevalier D.; Lo-Guidice J.-M.; Allorge D.; Cauffiez C.; Lafitte J.-J.; Broly F.;
Hum. Mutat. 16:450-450(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-197; 242-310 AND 348-455; VARIANTS CYS-49; HIS-113; ARG-139; PRO-260 AND GLN-454; Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia.
Laasanen J.; Romppanen E.-L.; Hiltunen M.; Helisalmi S.; Mannermaa A.; Punnonen K.; Heinonen S.;
Eur. J. Hum. Genet. 10:569-573(2002)
Cited for: VARIANTS HIS-113 AND ARG-139; DISEASE; Functional analysis of human microsomal epoxide hydrolase genetic variants.
Hosagrahara V.P.; Rettie A.E.; Hassett C.; Omiecinski C.J.;
Chem. Biol. Interact. 150:149-159(2004)
Cited for: CHARACTERIZATION OF VARIANTS HIS-113 AND ARG-139;

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.