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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29597: Variant p.Ile684Ser

Non-receptor tyrosine-protein kinase TYK2
Gene: TYK2
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Variant information Variant position: help 684
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Serine (S) at position 684 (I684S, p.Ile684Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to small size and polar (S)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 684
Protein sequence length: help 1187
Location on the sequence: help QVSHTHLAFVHGVCVRGPEN I MVTEYVEHGPLDVWLRRERG
Residue conservation: help 
Human                         QVSHTHLAFVHGVCVRGPENIMVTEYVEHGPLDVWLRRERG

Mouse                         QVSHMHLAFLHGVCVRGSENIIVTEFVEHGPLDVWLRRQRG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1187 Non-receptor tyrosine-protein kinase TYK2
Domain 589 – 875 Protein kinase 1
Beta strand 682 – 688



Literature citations
TYK2, prototype of a novel class of non-receptor tyrosine kinase genes.
Firmbach-Kraft I.; Byers M.; Shows T.; Dalla-Favera R.; Krolewski J.J.;
Oncogene 5:1329-1336(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS PHE-362 AND SER-684; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-4; HIS-197; PHE-362; SER-363 AND SER-684; 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] PHE-362; SER-363; MET-386; SER-684; TRP-703; ARG-732; VAL-928; ALA-1104 AND GLY-1163;
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.