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UniProtKB/Swiss-Prot O60706: Variant p.Ala478Val

ATP-binding cassette sub-family C member 9
Gene: ABCC9
Variant information Variant position: help 478 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Valine (V) at position 478 (A478V, p.Ala478Val). 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: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In HTOCD; rat ABCC9 construct containing this mutation shows gain of function. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 478 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1549 The length of the canonical sequence.
Location on the sequence: help VGAAVIVLLAPIQYFIATKL A EAQKSTLDYSTERLKKTNEI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.





Sequence annotation in neighborhood: help 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 – 1549 ATP-binding cassette sub-family C member 9
Topological domain 477 – 531 Cytoplasmic
Domain 297 – 597 ABC transmembrane type-1 1

Literature citations
Cantu syndrome is caused by mutations in ABCC9.
van Bon B.W.; Gilissen C.; Grange D.K.; Hennekam R.C.; Kayserili H.; Engels H.; Reutter H.; Ostergaard J.R.; Morava E.; Tsiakas K.; Isidor B.; Le Merrer M.; Eser M.; Wieskamp N.; de Vries P.; Steehouwer M.; Veltman J.A.; Robertson S.P.; Brunner H.G.; de Vries B.B.; Hoischen A.;
Am. J. Hum. Genet. 90:1094-1101(2012)
Cited for: VARIANTS HTOCD VAL-478; TYR-1043; GLN-1154 AND TRP-1154; Differential mechanisms of Cantu syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
Cooper P.E.; Sala-Rabanal M.; Lee S.J.; Nichols C.G.;
J. Gen. Physiol. 146:527-540(2015)
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.