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UniProtKB/Swiss-Prot Q14191: Variant p.Val114Ile

Werner syndrome ATP-dependent helicase
Gene: WRN
Variant information

Variant position:  114
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 Isoleucine (I) at position 114 (V114I, p.Val114Ile).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  3
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

Variant description:  No effect on exonuclease activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  114
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1432
The length of the canonical sequence.

Location on the sequence:   LGKVALIQLCVSESKCYLFH  V SSMSVFPQGLKMLLENKAVK
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                         LGKVALIQLCVSESKCYLFHVSSMSVFPQGLKMLLENKAVK

Mouse                         RSRVAVIQLCVSESKCYLFHISSMSVFPQGLKMLLENKSIK

Xenopus laevis                TGKVALIQVCVSEKKCYLFHISPMAGFPKGLKRLLEDESVR

Caenorhabditis elegans        -----------------------------------DNDELP

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.

TypePositionsDescription
Chain 2 – 1432 Werner syndrome ATP-dependent helicase
Domain 60 – 228 3'-5' exonuclease
Region 2 – 277 Interaction with WRNIP1
Helix 114 – 116


Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-114; LYS-343; ILE-387; SER-533; CYS-612; PHE-708; CYS-834; SER-912; LEU-1079; ALA-1133; ILE-1339 AND ARG-1367;

WRN exonuclease structure and molecular mechanism imply an editing role in DNA end processing.
Perry J.J.; Yannone S.M.; Holden L.G.; Hitomi C.; Asaithamby A.; Han S.; Cooper P.K.; Chen D.J.; Tainer J.A.;
Nat. Struct. Mol. Biol. 13:414-422(2006)
Cited for: X-RAY CRYSTALLOGRAPHY (2.00 ANGSTROMS) OF 38-236 IN COMPLEXES WITH MAGNESIUM; MANGANESE; EUROPIUM AND GMP; PARTIAL PROTEIN SEQUENCE; IDENTIFICATION BY MASS SPECTROMETRY; CATALYTIC ACTIVITY; COFACTOR; MUTAGENESIS OF GLU-84; TRP-145 AND TYR-212; CHARACTERIZATION OF VARIANTS ILE-114 AND PRO-172;

The Werner syndrome gene and global sequence variation.
Passarino G.; Shen P.; Van Kirk J.B.; Lin A.A.; De Benedictis G.; Cavalli-Sforza L.L.; Oefner P.J.; Underhill P.A.;
Genomics 71:118-122(2001)
Cited for: VARIANTS ARG-32; ILE-114; PRO-172; LYS-240; TRP-383; ILE-387; LEU-724; PHE-1074; GLU-1269 AND ARG-1367;

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.