Sequence information
Variant position: 135 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:
SSMSVFPQGLKMLLENKAVK
K AGVGIEGDQWKLLRDFDIKL
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 SSMSVFPQGLKMLLENKAVKK AGVGIEGDQWKLLRDFDIKL
Mouse SSMSVFPQGLKMLLENKSIKK AGVGIEGDQWKLLRDFDVKL
Xenopus laevis SPMAGFPKGLKRLLEDESVRK VGVGIEGDQWKLMSDYELKL
Caenorhabditis elegans --------------DNDELPE TEPESDSDKPTVTSN-----
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
Werner syndrome ATP-dependent helicase
Domain
60 – 228
3'-5' exonuclease
Region
2 – 277
Interaction with WRNIP1
Site
145 – 145
Interaction with DNA
Cross
154 – 154
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Mutagenesis
145 – 145
W -> A. Reduces exonuclease activity.
Beta strand
133 – 139
Literature citations
The spectrum of WRN mutations in Werner syndrome patients.
Huang S.; Lee L.; Hanson N.B.; Lenaerts C.; Hoehn H.; Poot M.; Rubin C.D.; Chen D.-F.; Yang C.-C.; Juch H.; Dorn T.; Spiegel R.; Oral E.A.; Abid M.; Battisti C.; Lucci-Cordisco E.; Neri G.; Steed E.H.; Kidd A.; Isley W.; Showalter D.; Vittone J.L.; Konstantinow A.; Ring J.; Meyer P.; Wenger S.L.; Herbay A.V.; Wollina U.; Schuelke M.; Huizenga C.R.; Leistritz D.F.; Martin G.M.; Mian I.S.; Oshima J.;
Hum. Mutat. 27:558-567(2006)
Cited for: VARIANTS WRN ASN-125 AND GLU-135;
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.