UniProtKB/Swiss-Prot Q14191: Variant p.Gly92Val

Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN
Gene: WRN
Feedback?

Variant information Variant position:

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

US 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 Glycine (G) to Valine (V) at position 92 (G92V, p.Gly92Val). 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 glycine (G) to medium size and hydrophobic (V) 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:

In a colorectal cancer sample; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

92 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:

SLSDGDVVGFDMEWPPLYNR G KLGKVALIQLCVSESKCYLF 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                         SLSDGDVVGFDMEWPPLYNRGKLGKVALIQLCVSESKCYLF

Mouse                         RLSDGDVVGFDMEWPPIYKPGKRSRVAVIQLCVSESKCYLF

Xenopus laevis                SLLEEDVLGFDIEWPPVYTKGKTGKVALIQVCVSEKKCYLF

Caenorhabditis elegans        TEPE-------------------------------------

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	2 – 1432	Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN
Domain	60 – 228	3'-5' exonuclease
Region	2 – 277	Interaction with WRNIP1
Binding site	82 – 82
Binding site	82 – 82
Binding site	84 – 84
Mutagenesis	84 – 84	E -> A. Abolishes exonuclease activity. Restores chromosome stability in depletion experiments.
Mutagenesis	88 – 88	L -> A. No effect on exonuclease activity.

Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-92;

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.