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UniProtKB/Swiss-Prot Q9UGJ0: Variant p.His383Arg

5'-AMP-activated protein kinase subunit gamma-2
Gene: PRKAG2
Variant information

Variant position:  383
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Histidine (H) to Arginine (R) at position 383 (H383R, p.His383Arg).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (H) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CMH6; severe; impaired AMP- and ATP-binding.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  383
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  569
The length of the canonical 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.



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.

Chain 1 – 569 5'-AMP-activated protein kinase subunit gamma-2
Domain 357 – 415 CBS 2
Nucleotide binding 383 – 384 ADP 1
Nucleotide binding 383 – 384 AMP 1
Nucleotide binding 383 – 384 ATP 1
Motif 370 – 391 AMPK pseudosubstrate
Binding site 383 – 383 AMP 3
Binding site 384 – 384 ATP 2
Binding site 402 – 402 ADP 2
Binding site 402 – 402 AMP 2
Binding site 402 – 402 ATP 2
Mutagenesis 387 – 387 V -> S. Induces phosphorylation by AMPK.

Literature citations

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)

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
Blair E.; Redwood C.; Ashrafian H.; Oliveira M.; Broxholme J.; Kerr B.; Salmon A.; Oestman-Smith I.; Watkins H.;
Hum. Mol. Genet. 10:1215-1220(2001)
Cited for: VARIANTS CMH6 LEU-350 INS AND ARG-383;

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.