UniProtKB/SwissProt variant VAR

ALK tyrosine kinase receptor
Gene: ALK
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Variant information Variant position:

680
Type of variant:

LB/B
Residue change:

From Threonine (T) to Isoleucine (I) at position 680 (T680I, p.Thr680Ile).
Physico-chemical properties:

Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score:

-1
Other resources:

Variant rs35228363 [ dbSNP | Ensembl ]

Sequence information Variant position:

680
Protein sequence length:

1620
Location on the sequence:

PNKELKPGENSPRQTPIFDP T VHWLFTTCGASGPHGPTQAQ
Residue conservation:

Human                         PNKELKPGENSPRQTPIFDPTVHWLFTTCGASGPHGPTQAQ

Mouse                         PNKESKSWANISGPTPIFDPTVHWLFTTCGASGPHGPTQAQ

Zebrafish                     -NENIKTTTTLYGGPGASTESVKWIFHTCGATGQDGPTPTQ

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	19 – 1620	ALK tyrosine kinase receptor
Topological domain	19 – 1038	Extracellular
Beta strand	680 – 685

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] LEU-90; LEU-163; GLN-296; ALA-476; PHE-560; ILE-680; THR-704; SER-877; MET-1012; ASP-1121; THR-1274; LEU-1328; ASN-1416; LYS-1419; ARG-1429; ARG-1491 AND GLU-1529;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UM73: Variant p.Thr680Ile