UniProtKB/SwissProt variant VAR

Fibroblast growth factor receptor 4
Gene: FGFR4
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Variant information Variant position:

516
Type of variant:

LB/B
Residue change:

From Aspartate (D) to Asparagine (N) at position 516 (D516N, p.Asp516Asn).
Physico-chemical properties:

Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score:

1
Other resources:

Variant rs34158682 [ dbSNP | Ensembl ]

Sequence information Variant position:

516
Protein sequence length:

802
Location on the sequence:

QASTVAVKMLKDNASDKDLA D LVSEMEVMKLIGRHKNIINL
Residue conservation:

Human                         QASTVAVKMLKDNASDKDLADLVSEMEVMKLIGRHKNIINL

Mouse                         QTSTVAVKMLKDNASDKDLADLVSEMEVMKLIGRHKNIINL

Rat                           QTSTVAVKMLKDNASDKDLADLISEMEMMKLIGRHKNIINL

Xenopus laevis                KPVTVAVKMLKDNGTDKDLSDLISEMELMKVIGKHKNIINL

Zebrafish                     HMATVAVKMLKDDATDKDLADLISEMELMKVMDKHKNIINL

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	22 – 802	Fibroblast growth factor receptor 4
Topological domain	391 – 802	Cytoplasmic
Domain	467 – 755	Protein kinase
Binding site	503 – 503
Mutagenesis	503 – 503	K -> R. Loss of kinase activity.
Helix	511 – 527

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] ILE-10; LEU-136; ALA-179; SER-426; ASN-516; MET-550; THR-712 AND ASN-772;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22455: Variant p.Asp516Asn