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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q05397: Variant p.His292Gln

Focal adhesion kinase 1
Gene: PTK2
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Variant information Variant position: help 292
Type of variant: help LB/B
Residue change: help From Histidine (H) to Glutamine (Q) at position 292 (H292Q, p.His292Gln).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0


Sequence information Variant position: help 292
Protein sequence length: help 1052
Location on the sequence: help LAIGPEEGISYLTDKGCNPT H LADFTQVQTIQYSNSEDKDR
Residue conservation: help 
Human                         LAIGPEEGISYLTDKGCNPTHLADFTQVQTIQYSNSEDKDR

Mouse                         LAIGPEEGISYLTDKGCNPTHLADFNQVQTIQYSNSEDKDR

Rat                           LAIGPEEGISYLTDKGCNPTHLADFNQVQTIQYSNSEDKDR

Chicken                       LAIGPEEGISYLTDKGANPTHLADFNQVQTIQYSNSEDKDR

Xenopus laevis                LAIGPEEGISYLTDKGSNPTHLADFTQVQTIQYSSSEDKDR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 1052 Focal adhesion kinase 1
Domain 35 – 355 FERM
Alternative sequence 1 – 692 Missing. In isoform 6.
Beta strand 290 – 294



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-292; GLN-292; ALA-793; GLU-1030 AND GLU-1044;
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.