Sequence information
Variant position: 312 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 487 The length of the canonical sequence.
Location on the sequence:
DLINEAMDVKLKRQESQQRE
V DQDDEENSEEDEMDSGTMVR
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DLINEAMDVKLKRQ------ESQQREV DQDDEENSEEDEMDS-GTMVR
Rhesus macaque DLINEAMDVKLKRQ------ESQQREV DQDDEENSEEDEMD
Mouse DLINEAMDVKLKRQ------EAQQREV DQDDEENSEEDEMD
Bovine DLINEAMDVKLKRQ------EAQQREV DQEEEENSEEDELD
Chicken DLINEAMDIKLKRQ------EAQQREL DQEDEENSEEDETD
Xenopus laevis HLLNAAQDEKLKRT------ELKQREV EPEEKENVNEDEVD
Xenopus tropicalis HLINEAQDAKLKRT------ELKQREV EPEEEENADEDEAD
Slime mold PLIDE-QDIIINEKGREVALGIEQRDE EEEDEDEDSEDSDD
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 487
Serine/threonine-protein kinase 4
Chain
1 – 326
Serine/threonine-protein kinase 4 37kDa subunit
Region
303 – 332
Disordered
Modified residue
320 – 320
Phosphoserine
Mutagenesis
326 – 326
D -> N. Resistant to proteolytic cleavage by caspase during apoptosis; when associated with N-349.
Literature citations
Cloning and characterization of a human protein kinase with homology to Ste20.
Creasy C.L.; Chernoff J.;
J. Biol. Chem. 270:21695-21700(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-312;
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] ASN-162; GLN-310; MET-312; THR-355 AND LEU-416;
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.