Variant position: 387 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 VERKEDGFEDGVEDNKLKEN MERACLMSLDITEHELQILEQ
Mouse VKQEKGESENEIEDNLLRED MERTCVIP-SISENELQDLEQ
Xenopus laevis CKNADSQNNKDI-DSCQNEN RDEDFFMTLGISEEELYMME-
Caenorhabditis elegans VSKRS--------EDTLNDS FVDPEFMD-SVLDNQLTI---
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;
Werner syndrome: characterization of mutations in the WRN gene in an affected family.
Meisslitzer C.; Ruppitsch W.; Weirich-Schwaiger H.; Weirich H.G.; Jabkowsky J.; Klein G.; Schweiger M.; Hirsch-Kauffmann M.;
Eur. J. Hum. Genet. 5:364-370(1997)
Cited for: VARIANTS ILE-387 AND PHE-1074;
The 1396del A mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer.
Vidal V.; Bay J.-O.; Champomier F.; Grancho M.; Beauville L.; Glowaczower C.; Lemery D.; Ferrara M.; Bignon Y.-J.;
Hum. Mutat. 11:413-414(1998)
Cited for: VARIANT ILE-387;
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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