Variant position: 400 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 569 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 NKIHRLPVIDPISGNALYIL THKRILKFLQLFMSDMPKPAF
Mouse NKIHRLPVIDPISGNALYIL THKRILKFLQLFMSDMPKPAF
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 – 569 5'-AMP-activated protein kinase subunit gamma-2
357 – 415 CBS 2
383 – 383 AMP 3
402 – 402 AMP, ADP or ATP 2
387 – 387 V -> S. Induces phosphorylation by AMPK.
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
Scott J.W.; Hawley S.A.; Green K.A.; Anis M.; Stewart G.; Scullion G.A.; Norman D.G.; Hardie D.G.;
J. Clin. Invest. 113:274-284(2004)
Cited for: DOMAIN CBS; AMP-BINDING; ATP-BINDING; CHARACTERIZATION OF VARIANTS WPWS GLN-302; ARG-383 AND ASN-400; CHARACTERIZATION OF VARIANT WPWS GLY-531; FUNCTION;
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
Arad M.; Benson D.W.; Perez-Atayde A.R.; McKenna W.J.; Sparks E.A.; Kanter R.J.; McGarry K.; Seidman J.G.; Seidman C.E.;
J. Clin. Invest. 109:357-362(2002)
Cited for: VARIANTS CMH6 GLN-302; ASN-400 AND ILE-488;
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.