Variant position: 410 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 846 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 LKENPSTVGVERVISTKGLN LPRKSSIVKRPRSA-ELSEDDL
Mouse LKEKPSTLGLKQVISTKGLN LPRKSCVLKRPRNE-ALAEDD
Xenopus laevis -----KTTKIEEIHSPRGLI LPSKKHTVKRSYED-GVSDTD
Zebrafish -KRPPPTRGKERIVSVQSLK LPQRESQVKRPREDTSLSVDD
Drosophila -KENPCALFFKKVDFV-GKT LNEEIEANQRLEQA-KQTEAE
Slime mold KNNNNNQKQQPMIEDDTGYD FQIDSFEIDDCLND-DDDDES
Baker's yeast KVKPIESFFQKMTKLDHNPK VANNIHSLRQAEDKLTMAIKR
Fission yeast -KRPTKSTSLIDVTNVK--- -------VQRTHLA-NDISSE
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
1 – 846 Exonuclease 1
388 – 490 Interaction with MLH1
422 – 422 Phosphoserine
418 – 418 K -> AT. Complete loss of nuclear localization.
419 – 419 R -> A. Complete loss of nuclear localization.
Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome.
Sun X.; Zheng L.; Shen B.;
Cancer Res. 62:6026-6030(2002)
Cited for: FUNCTION; INTERACTION WITH MLH1 AND MSH2; CHARACTERIZATION OF VARIANTS LYS-109; ARG-410; SER-640; GLU-759 AND LEU-770;
Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms.
Wu Y.; Berends M.J.W.; Post J.G.; Mensink R.G.J.; Verlind E.; van der Sluis T.; Kempinga C.; Sijmons R.H.; van der Zee A.G.J.; Hollema H.; Kleibeuker J.H.; Buys C.H.C.M.; Hofstra R.M.W.;
Cited for: VARIANTS ALA-27; LYS-109; ARG-410; GLY-610; ALA-640; SER-640; GLU-759 AND LEU-770;
EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer.
Jagmohan-Changur S.; Poikonen T.; Vilkki S.; Launonen V.; Wikman F.; Orntoft T.F.; Moeller P.; Vasen H.; Tops C.; Kolodner R.D.; Mecklin J.-P.; Jaervinen H.; Bevan S.; Houlston R.S.; Aaltonen L.A.; Fodde R.; Wijnen J.; Karhu A.;
Cancer Res. 63:154-158(2003)
Cited for: VARIANTS SER-137; ARG-410; CYS-438; GLY-610; ALA-640; SER-640; GLU-759 AND VAL-827;
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.