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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UQ84: Variant p.Val27Ala

Exonuclease 1
Gene: EXO1
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Variant information Variant position: help 27
Type of variant: help LB/B
Residue change: help From Valine (V) to Alanine (A) at position 27 (V27A, p.Val27Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to small size and hydrophobic (A)
BLOSUM score: help 0
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 27
Protein sequence length: help 846
Location on the sequence: help LQFIKEASEPIHVRKYKGQV V AVDTYCWLHKGAIACAEKLA
Residue conservation: help 
Human                         LQFIKEASEPIHVRKYKGQVVAVDTYCWLHKGAIACAEKLA

Mouse                         LQFIQEASEPVNVKKYKGQAVAVDTYCWLHKGAIACAEKLA

Xenopus laevis                LQFLKEASEPVHVKKYKGKTVAVDTYCWLHKGAFACAEKLA

Zebrafish                     LQFIKDASEPMHVKKYRGQTVAVDTYCWLHKGAFSCAEKLA

Drosophila                    IPFVGKASSQLHLKDIRGSTVAVDTYCWLHKGVFGCAEKLA

Slime mold                    LPALSPVTKAIHVKDYANKRVAIDGYSWLHKGAYSCSQEIV

Baker's yeast                 LPQLKPIQNPVSLRRYEGEVLAIDGYAWLHRAACSCAYELA

Fission yeast                 LGLLKPMQKSSHVEEFSGKTLGVDGYVWLHKAVFTCAHELA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 846 Exonuclease 1
Region 1 – 99 N-domain
Binding site 30 – 30
Beta strand 25 – 30



Literature citations
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.;
Gastroenterology 120:1580-1587(2001)
Cited for: VARIANTS ALA-27; LYS-109; ARG-410; GLY-610; ALA-640; SER-640; GLU-759 AND LEU-770;
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.