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UniProtKB/Swiss-Prot Q9UQQ2: Variant p.Trp262Arg

SH2B adapter protein 3
Gene: SH2B3
Chromosomal location: 12q24
Variant information

Variant position:  262
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Tryptophan (W) to Arginine (R) at position 262 (W262R, p.Trp262Arg).
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 large size and aromatic (W) to large size and basic (R)
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:  Associated with susceptibility to CELIAC13 and IDDM.
Any additional useful information about the variant.

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



Sequence information

Variant position:  262
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  575
The length of the canonical sequence.

Location on the sequence:   PPKSSRPKLQAACSSIQEVR  W CTRLEMPDNLYTFVLKVKDR
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                         PPKSSRPKLQAACSSIQEVRWCTRLEMPDNLYTFVLKVKDR

Mouse                         PPKSSKPKLQEACSSIREVRPCTRLEMPDNLYTFVLKVQDQ

Rat                           ---------------VAPLRVTTTIFLP-------------

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 1 – 575 SH2B adapter protein 3
Domain 194 – 307 PH


Literature citations

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Todd J.A.; Walker N.M.; Cooper J.D.; Smyth D.J.; Downes K.; Plagnol V.; Bailey R.; Nejentsev S.; Field S.F.; Payne F.; Lowe C.E.; Szeszko J.S.; Hafler J.P.; Zeitels L.; Yang J.H.M.; Vella A.; Nutland S.; Stevens H.E.; Schuilenburg H.; Coleman G.; Maisuria M.; Meadows W.; Smink L.J.; Healy B.; Burren O.S.; Lam A.A.C.; Ovington N.R.; Allen J.; Adlem E.; Leung H.-T.; Wallace C.; Howson J.M.M.; Guja C.; Ionescu-Tirgoviste C.; Simmonds M.J.; Heward J.M.; Gough S.C.L.; Dunger D.B.; Wicker L.S.; Clayton D.G.;
Nat. Genet. 39:857-864(2007)
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO IDDM; VARIANT ARG-262;

Newly identified genetic risk variants for celiac disease related to the immune response.
Hunt K.A.; Zhernakova A.; Turner G.; Heap G.A.R.; Franke L.; Bruinenberg M.; Romanos J.; Dinesen L.C.; Ryan A.W.; Panesar D.; Gwilliam R.; Takeuchi F.; McLaren W.M.; Holmes G.K.T.; Howdle P.D.; Walters J.R.F.; Sanders D.S.; Playford R.J.; Trynka G.; Mulder C.J.; Mearin M.L.; Verbeek W.H.M.; Trimble V.; Stevens F.M.; O'Morain C.; Kennedy N.P.; Kelleher D.; Pennington D.J.; Strachan D.P.; McArdle W.L.; Mein C.A.; Wapenaar M.C.; Deloukas P.; McGinnis R.; McManus R.; Wijmenga C.; van Heel D.A.;
Nat. Genet. 40:395-402(2008)
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO CELIAC13; VARIANT ARG-262;

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.