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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15746: Variant p.Arg378His

Myosin light chain kinase, smooth muscle
Gene: MYLK
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Variant information Variant position: help 378
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 378 (R378H, p.Arg378His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 378
Protein sequence length: help 1914
Location on the sequence: help APGLGVLSPSGEERKRPAPP R PATFPTRQPGLGSQDVVSKA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1914 Myosin light chain kinase, smooth muscle
Chain 1 – 1910 Myosin light chain kinase, smooth muscle, deglutamylated form
Region 286 – 393 Disordered
Modified residue 365 – 365 Phosphoserine
Alternative sequence 1 – 1760 Missing. In isoform 6 and isoform 8.
Alternative sequence 1 – 1200 Missing. In isoform 7.
Alternative sequence 1 – 922 Missing. In isoform 5 and isoform 9.



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] ALA-261; ALA-276; HIS-378; VAL-405; SER-443; GLY-607; ALA-652; CYS-656; MET-692; THR-701; MET-709; VAL-1527 AND LEU-1588;
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.