Sequence information
Variant position: 1513 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1549 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TAFADRTVVTIAHRVSSIMDA GLVLVFSEGILVECDTVPNL
Mouse TAFADRTVVTIAHRVSSIVDA GLVLVFSEGILVECDTGPNL
Rat TAFADRTVVTIAHRVSSIMDA GLVLVFSEGILVECDTGPNL
Rabbit TAFADRTVVTIAHRVSSIVDA DLVLVFSEGILVECDTGPNL
Slime mold ENLVNNTILTIAHRLDIIIDS DKIAVIDNSKLIEFENPKNL
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
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.