Sequence information
Variant position: 267 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 671 The length of the canonical sequence.
Location on the sequence:
YIIRQGARGDTFFIISKGTV
N VTREDSPSEDPVFLRTLGKG
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 YIIRQGARGDTFFIISKGTVN VTREDSP-SEDPVFLRTLGKG
Mouse YIIRQGARGDTFFIISKGQVN VTREDSP-SEDPVFLRTLGK
Bovine YIIRQGARGDTFFIISKGKVN VTREDSP-NEDPVFLRTLGK
Rabbit YSIRQGARGDTFFIISKGKVN VTREDSP-SEDPIFLRTLGK
Drosophila YIIRQGTAGDSFFLISQGNVR VTQKLTPTSPEETELRTLSR
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
2 – 671
cGMP-dependent protein kinase 1
Region
221 – 341
cGMP-binding, low affinity
Binding site
282 – 282
3',5'-cGMP 2
Alternative sequence
16 – 297
Missing. In isoform 3.
Mutagenesis
281 – 281
L -> A. Reduces cGMP binding affinity.
Mutagenesis
282 – 282
R -> A. Reduces cGMP binding affinity.
Beta strand
266 – 270
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] VAL-249 AND SER-267;
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.