Variant position: 172 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 DIKLKNFVELTDVANKKLKC TETWSLNSLVKHLLGKQLLKD
Mouse DVKLESFVELTDVANEKLKC AETWSLNGLVKHVLGKQLLKD
Xenopus laevis ELKLKGFIELSEMANQKLRC KEKWTFNGLIKHLFKEQLYKR
Caenorhabditis elegans -------------------- ---------------------
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
60 – 228 3'-5' exonuclease
2 – 277 Interaction with WRNIP1
WRN exonuclease structure and molecular mechanism imply an editing role in DNA end processing.
Perry J.J.; Yannone S.M.; Holden L.G.; Hitomi C.; Asaithamby A.; Han S.; Cooper P.K.; Chen D.J.; Tainer J.A.;
Nat. Struct. Mol. Biol. 13:414-422(2006)
Cited for: X-RAY CRYSTALLOGRAPHY (2.00 ANGSTROMS) OF 38-236 IN COMPLEXES WITH MAGNESIUM; MANGANESE; EUROPIUM AND GMP; PARTIAL PROTEIN SEQUENCE; IDENTIFICATION BY MASS SPECTROMETRY; CATALYTIC ACTIVITY; COFACTOR; MUTAGENESIS OF GLU-84; TRP-145 AND TYR-212; CHARACTERIZATION OF VARIANTS ILE-114 AND PRO-172;
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;
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.