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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UQ84: Variant p.Ala137Ser

Exonuclease 1
Gene: EXO1
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Variant information Variant position: help 137
Type of variant: help LB/B
Residue change: help From Alanine (A) to Serine (S) at position 137 (A137S, p.Ala137Ser).
Physico-chemical properties: help Change from small size and hydrophobic (A) to small size and polar (S)
BLOSUM score: help 1
Polymorphism: help Most naturally occurring variants in this protein are not associated with familial disposition to hereditary non-polyposis colorectal cancer (HNPCC) (PubMed:12517792). Furthermore, germline deletions involving this locus are not associated with clinically manifested colorectal tumors (PubMed:14623461).
Other resources: help


Sequence information Variant position: help 137
Protein sequence length: help 846
Location on the sequence: help ECFTRSINITHAMAHKVIKA A RSQGVDCLVAPYEADAQLAY
Residue conservation: help 
Human                         ECFTRSINITHAMAHKVIKAARSQGVDCLVAPYEADAQLAY

Mouse                         DCFARSINITHAMAHKVIKAARALGVDCLVAPYEADAQLAY

Xenopus laevis                ECFSRSVNITSSMAHEVIKAARSEGVDYIVAPYEADSQLAY

Zebrafish                     ECFTRSVNITPSMAHDVIRAARTRGVDCVVAPYEADAQLAF

Drosophila                    SHMRRCVDVTHDMALRLIRECRSRNVDCIVAPYEADAQMAW

Slime mold                    ICFQKAVDITPRMAFLLIKELRALKVEYLVAPYEADAQLTY

Baker's yeast                 DYFQKCVDITPEMAKCIICYCKLNGIRYIVAPFEADSQMVY

Fission yeast                 MQFSRCVDVTPEMAWKLIIALREHGIESIVAPYEADAQLVY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 846 Exonuclease 1
Region 129 – 387 Interaction with MSH3
Binding site 150 – 150
Binding site 152 – 152
Helix 127 – 139



Literature citations
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;
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.