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:
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 TAFADRTVVTIAHRVSSIMD AGLVLVFSEGILVECDTVPNL
Mouse TAFADRTVVTIAHRVSSIVD AGLVLVFSEGILVECDTGPNL
Rat TAFADRTVVTIAHRVSSIMD AGLVLVFSEGILVECDTGPNL
Rabbit TAFADRTVVTIAHRVSSIVD ADLVLVFSEGILVECDTGPNL
Slime mold ENLVNNTILTIAHRLDIIID SDKIAVIDNSKLIEFENPKNL
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 – 1549 ATP-binding cassette sub-family C member 9
1267 – 1549 Cytoplasmic
1312 – 1546 ABC transporter 2
1508 – 1549 SSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK -> HTILTADLVIVMKRGNILEYDTPESLLAQENGVFASFVRADM. In isoform SUR2B.
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;
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