Variant position: 274 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 481 The length of the canonical sequence.
Location on the sequence:
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 FYGAEIVSALEYLHSRDVVY RDIKLENLMLDKDGHIKITDF
Mouse FYGAEIVSALEYLHSRDVVY RDIKLENLMLDKDGHIKITDF
Rat FYGAEIVSALEYLHSTDVVY RDIKLENLMLDKDGHIKITDF
Caenorhabditis elegans FYGSEIILALGYLHHRNIVY RDMKLENLLLDRDGHIKITDF
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
1 – 481 RAC-beta serine/threonine-protein kinase
152 – 409 Protein kinase
275 – 275 Proton acceptor
280 – 280 Manganese
293 – 293 Manganese
279 – 279 Inhibitor; via carbonyl oxygen
293 – 293 Inhibitor
294 – 294 Inhibitor; via amide nitrogen
A family with severe insulin resistance and diabetes due to a mutation in AKT2.
George S.; Rochford J.J.; Wolfrum C.; Gray S.L.; Schinner S.; Wilson J.C.; Soos M.A.; Murgatroyd P.R.; Williams R.M.; Acerini C.L.; Dunger D.B.; Barford D.; Umpleby A.M.; Wareham N.J.; Davies H.A.; Schafer A.J.; Stoffel M.; O'Rahilly S.; Barroso I.;
Cited for: VARIANT NIDDM HIS-274;
Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.
Semple R.K.; Sleigh A.; Murgatroyd P.R.; Adams C.A.; Bluck L.; Jackson S.; Vottero A.; Kanabar D.; Charlton-Menys V.; Durrington P.; Soos M.A.; Carpenter T.A.; Lomas D.J.; Cochran E.K.; Gorden P.; O'Rahilly S.; Savage D.B.;
J. Clin. Invest. 119:315-322(2009)
Cited for: ASSOCIATION OF VARIANT NIDDM HIS-274 WITH TYPICAL METABOLIC DYSLIPIDEMIA;
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.