UniProtKB/Swiss-Prot Q14191: Variant p.Cys1367Arg

Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN
Gene: WRN
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Variant information Variant position:

1367 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 Cysteine (C) to Arginine (R) at position 1367 (C1367R, p.Cys1367Arg). 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 medium size and polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

Associated with a higher risk of myocardial infarction. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1346044 [ dbSNP | Ensembl ]

Sequence information Variant position:

1367 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1432 The length of the canonical sequence.
Location on the sequence:

LIHMAIEILKHGPDSGLQPS C DVNKRRCFPGSEEICSSSKR 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                         LIHMAIEILKHGPD-SGLQPSCD---------------------------------VNKRRCFPGSEEI-----------------CSSSKR

Mouse                         LIHMAIEILQSGSD-SRTQPPCD------------------

Xenopus laevis                PIRMVISLLEKEGS-SGAQGQPEFPTQKTLIQTEENPKNVS

Caenorhabditis elegans        KLIRAILIYEYGLDTSENQEKPD------------------

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	2 – 1432	Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-114; LYS-343; ILE-387; SER-533; CYS-612; PHE-708; CYS-834; SER-912; LEU-1079; ALA-1133; ILE-1339 AND ARG-1367; Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population.
Ye L.; Miki T.; Nakura J.; Oshima J.; Kamino K.; Rakugi H.; Ikegami H.; Higaki J.; Edland S.D.; Martin G.M.; Ogihara T.;
Am. J. Med. Genet. 68:494-498(1997)
Cited for: VARIANT ARG-1367; Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic variability of 1367Cys/Arg, and its stability in a population of Finnish centenarians.
Castro E.; Ogburn C.E.; Hunt K.E.; Tilvis R.; Louhija J.; Penttinen R.; Erkkola R.; Panduro A.; Riestra R.; Piussan C.; Deeb S.S.; Wang L.; Edland S.D.; Martin G.M.; Oshima J.;
Am. J. Med. Genet. 82:399-403(1999)
Cited for: VARIANTS ALA-324 AND ARG-1367; The Werner syndrome gene and global sequence variation.
Passarino G.; Shen P.; Van Kirk J.B.; Lin A.A.; De Benedictis G.; Cavalli-Sforza L.L.; Oefner P.J.; Underhill P.A.;
Genomics 71:118-122(2001)
Cited for: VARIANTS ARG-32; ILE-114; PRO-172; LYS-240; TRP-383; ILE-387; LEU-724; PHE-1074; GLU-1269 AND ARG-1367;

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.