UniProtKB/Swiss-Prot O14641: Variant p.Ile282Thr

Segment polarity protein dishevelled homolog DVL-2
Gene: DVL2
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Variant information Variant position:

282 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 Isoleucine (I) to Threonine (T) at position 282 (I282T, p.Ile282Thr). 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 (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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:

Found in a renal cell carcinoma case; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

282 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

736 The length of the canonical sequence.
Location on the sequence:

SLNIITVTLNMEKYNFLGIS I VGQSNERGDGGIYIGSIMKG 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                         SLNIITVTLNMEKYNFLGISIVGQSNERGDGGIYIGSIMKG

Mouse                         SLNIITVTLNMEKYNFLGISIVGQSNERGDGGIYIGSIMKG

Xenopus laevis                SLNIITVTLNMEKYNFLGISIVGQSNERGDGGIYIGSIMKG

Xenopus tropicalis            SLNIITVTLNMEKYNFLGISIVGQSNERGDGGIYIGSIMKG

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 – 736	Segment polarity protein dishevelled homolog DVL-2
Domain	267 – 339	PDZ
Region	250 – 355	Required for interaction with FOXK2
Mutagenesis	262 – 262	S -> A. Almost abolishes interaction with FOXK2.
Mutagenesis	267 – 267	T -> A. Almost abolishes interaction with FOXK2.
Mutagenesis	269 – 269	T -> A. Almost abolishes interaction with FOXK2.
Mutagenesis	275 – 275	Y -> F. No effect on interaction with FOXK2.
Mutagenesis	281 – 281	S -> A. No effect on interaction with FOXK2.
Mutagenesis	286 – 286	S -> A. No effect on interaction with FOXK2.
Mutagenesis	295 – 295	Y -> F. No effect on interaction with FOXK2.
Mutagenesis	298 – 298	S -> A. No effect on interaction with FOXK2.
Beta strand	280 – 285

Literature citations
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
Varela I.; Tarpey P.; Raine K.; Huang D.; Ong C.K.; Stephens P.; Davies H.; Jones D.; Lin M.L.; Teague J.; Bignell G.; Butler A.; Cho J.; Dalgliesh G.L.; Galappaththige D.; Greenman C.; Hardy C.; Jia M.; Latimer C.; Lau K.W.; Marshall J.; McLaren S.; Menzies A.; Mudie L.; Stebbings L.; Largaespada D.A.; Wessels L.F.A.; Richard S.; Kahnoski R.J.; Anema J.; Tuveson D.A.; Perez-Mancera P.A.; Mustonen V.; Fischer A.; Adams D.J.; Rust A.; Chan-On W.; Subimerb C.; Dykema K.; Furge K.; Campbell P.J.; Teh B.T.; Stratton M.R.; Futreal P.A.;
Nature 469:539-542(2011)
Cited for: VARIANT THR-282;

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.