UniProtKB/Swiss-Prot Q9UQ84: Variant p.Val27Ala

Exonuclease 1
Gene: EXO1
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Variant information Variant position:

27 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Valine (V) to Alanine (A) at position 27 (V27A, p.Val27Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

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). Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1472620416 [ dbSNP | Ensembl ]

Sequence information Variant position:

27 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:

LQFIKEASEPIHVRKYKGQV V AVDTYCWLHKGAIACAEKLA 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                         LQFIKEASEPIHVRKYKGQVVAVDTYCWLHKGAIACAEKLA

Mouse                         LQFIQEASEPVNVKKYKGQAVAVDTYCWLHKGAIACAEKLA

Xenopus laevis                LQFLKEASEPVHVKKYKGKTVAVDTYCWLHKGAFACAEKLA

Zebrafish                     LQFIKDASEPMHVKKYRGQTVAVDTYCWLHKGAFSCAEKLA

Drosophila                    IPFVGKASSQLHLKDIRGSTVAVDTYCWLHKGVFGCAEKLA

Slime mold                    LPALSPVTKAIHVKDYANKRVAIDGYSWLHKGAYSCSQEIV

Baker's yeast                 LPQLKPIQNPVSLRRYEGEVLAIDGYAWLHRAACSCAYELA

Fission yeast                 LGLLKPMQKSSHVEEFSGKTLGVDGYVWLHKAVFTCAHELA

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	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.