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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60706: Variant p.Ala1513Thr

ATP-binding cassette sub-family C member 9
Gene: ABCC9
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Variant information Variant position: help 1513 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 Threonine (T) at position 1513 (A1513T, p.Ala1513Thr). 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 polar (T) 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 CMD1O. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1513 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 TAFADRTVVTIAHRVSSIMD A GLVLVFSEGILVECDTVPNL 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. 
Human                         TAFADRTVVTIAHRVSSIMDAGLVLVFSEGILVECDTVPNL

Mouse                         TAFADRTVVTIAHRVSSIVDAGLVLVFSEGILVECDTGPNL

Rat                           TAFADRTVVTIAHRVSSIMDAGLVLVFSEGILVECDTGPNL

Rabbit                        TAFADRTVVTIAHRVSSIVDADLVLVFSEGILVECDTGPNL

Slime mold                    ENLVNNTILTIAHRLDIIIDSDKIAVIDNSKLIEFENPKNL
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.
TypePositionsDescription
Chain 1 – 1549 ATP-binding cassette sub-family C member 9
Topological domain 1267 – 1549 Cytoplasmic
Domain 1312 – 1546 ABC transporter 2
Alternative sequence 1508 – 1549 SSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK -> HTILTADLVIVMKRGNILEYDTPESLLAQENGVFASFVRADM. In isoform SUR2B.



Literature citations
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
Bienengraeber M.; Olson T.M.; Selivanov V.A.; Kathmann E.C.; O'Cochlain F.; Gao F.; Karger A.B.; Ballew J.D.; Hodgson D.M.; Zingman L.V.; Pang Y.-P.; Alekseev A.E.; Terzic A.;
Nat. Genet. 36:382-387(2004)
Cited for: VARIANT CMD1O THR-1513;
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.