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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11274: Variant p.Val1091Met

Breakpoint cluster region protein
Gene: BCR
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Variant information Variant position: help 1091
Type of variant: help LB/B
Residue change: help From Valine (V) to Methionine (M) at position 1091 (V1091M, p.Val1091Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 1091
Protein sequence length: help 1271
Location on the sequence: help VRQCVEEIERRGMEEVGIYR V SGVATDIQALKAAFDVNNKD
Residue conservation: help 
Human                         VRQCVEEIERRGMEEVGIYRVSGVATDIQALKAAFDVNNKD

Mouse                         VRQCVEEIERRGMEEVGIYRVSGVATDIQALKAAFDVNNKD

Rat                           VRQCVEEIERRGMEEVGIYRVSGVATDIQALKAAFDVNNKD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1271 Breakpoint cluster region protein
Domain 1054 – 1248 Rho-GAP
Mutagenesis 1090 – 1090 R -> A. Loss of GAP activity. Loss of GAP activity; when associated with A-1202.



Literature citations
Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-400; MET-413; GLU-752; SER-796; CYS-910; ILE-949; LYS-1037; MET-1091; ALA-1096; GLY-1104; ASN-1106; THR-1149; LYS-1161; GLU-1187; MET-1189; GLY-1204 AND ARG-1235;
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.