UniProtKB/Swiss-Prot Q9UQ84: Variant p.Ala153Val

Exonuclease 1
Gene: EXO1
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Variant information Variant position:

153 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 Alanine (A) to Valine (V) at position 153 (A153V, p.Ala153Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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.

Sequence information Variant position:

153 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:

VIKAARSQGVDCLVAPYEAD A QLAYLNKAGIVQAIITEDSD 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                         VIKAARSQGVDCLVAPYEADAQLAYLNKAGIVQAIITEDSD

Mouse                         VIKAARALGVDCLVAPYEADAQLAYLNKAGIVQAVITEDSD

Xenopus laevis                VIKAARSEGVDYIVAPYEADSQLAYLNKNDFAEAIITEDSD

Zebrafish                     VIRAARTRGVDCVVAPYEADAQLAFLNKSDIAQAVITEDSD

Drosophila                    LIRECRSRNVDCIVAPYEADAQMAWLNRADVAQYIITEDSD

Slime mold                    LIKELRALKVEYLVAPYEADAQLTYLSITGQVDAIITEDSD

Baker's yeast                 IICYCKLNGIRYIVAPFEADSQMVYLEQKNIVQGIISEDSD

Fission yeast                 LIIALREHGIESIVAPYEADAQLVYLEKENIIDGIITEDSD

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	129 – 387	Interaction with MSH3
Region	138 – 229	I-domain
Binding site	150 – 150
Binding site	152 – 152
Binding site	171 – 171
Binding site	173 – 173
Mutagenesis	173 – 173	D -> A. Abrogates double-stranded DNA exonuclease activity and endonuclease activity against 5'-overhanging flap structures. No effect on DNA-binding to 5'-overhanging flap structures.
Helix	151 – 160

Literature citations
A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
Hansen M.F.; Johansen J.; Bjoernevoll I.; Sylvander A.E.; Steinsbekk K.S.; Saetrom P.; Sandvik A.K.; Drabloes F.; Sjursen W.;
Fam. Cancer 14:437-448(2015)
Cited for: VARIANT VAL-153;

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.