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:
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-SGLQPS CD---------------------------------VNKRRCFPGSEEI-----------------CSSSKR
Mouse LIHMAIEILQSGSD-SRTQPP CD------------------
Xenopus laevis PIRMVISLLEKEGS-SGAQGQ PEFPTQKTLIQTEENPKNVS
Caenorhabditis elegans KLIRAILIYEYGLDTSENQEK PD------------------
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
2 – 1432 Werner syndrome ATP-dependent helicase
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.;
Cited for: VARIANTS ARG-32; ILE-114; PRO-172; LYS-240; TRP-383; ILE-387; LEU-724; PHE-1074; GLU-1269 AND ARG-1367;
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