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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78527: Variant p.Phe649Leu

DNA-dependent protein kinase catalytic subunit
Gene: PRKDC
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Variant information Variant position: help 649
Type of variant: help LB/B
Residue change: help From Phenylalanine (F) to Leucine (L) at position 649 (F649L, p.Phe649Leu).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 649
Protein sequence length: help 4128
Location on the sequence: help FCREILPEKQAEFFEPWVYS F SYELILQSTRLPLISGFYKL
Residue conservation: help 
Human                         FCREILPEKQAEFFEPWVYSFSYELILQSTRLPLISGFYKL

                              FCRDILPEKHIEFFEPWVYSFAYELILQSTRLPLISGFYKL

Mouse                         FCREILPRKHVGFFEPWVYSFAYELILQSTRLPLISGFYKL

Chicken                       FCRDILPDKHVEYFQPWVYSFGYELIIHSTRLPLISGFYKL

Xenopus laevis                FCSEILPKEHIEYFESWVYVFGYELVLQSTRLPLISGFYKL

Slime mold                    FFKLFISKYNTELFVQWIYIFGKEMISFSKKYPLISGFYKL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 4128 DNA-dependent protein kinase catalytic subunit
Helix 646 – 658



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] SER-6; ASN-263; ILE-333; ILE-420; SER-500; SER-605; LEU-649; SER-695; HIS-1136; VAL-1190; THR-1237; PHE-1279; MET-1447; GLY-1619; VAL-1680; VAL-1680; PRO-2023; GLN-2598; ASN-2810; CYS-2899; ALA-2941; ASP-3085; ASP-3149; SER-3198; SER-3201; GLU-3404; THR-3434; MET-3562; PHE-3584; ILE-3800; LEU-3836; SER-3936 AND MET-3937;
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.