Variant position: 478 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 VGAAVIVLLAPIQYFIATKL AEAQKSTLDYSTERLKKTNEI
Mouse VGAAVIVLLAPIQYFIATKL AEAQKSTLDYSTERLKKTNEI
Rat VGAAVIVLLAPIQYFIATKL AEAQKSTLDYSTERLKKTNEI
Rabbit VGAAVIVLLAPMQYFIATKL AEAQKSTLDYSTERLKKTNEI
Slime mold VGTAVILISFPINSYFGKKT SDYYEKLLKYTDKRVSTTSEF
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
477 – 531 Cytoplasmic
297 – 597 ABC transmembrane type-1 1
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)
Cited for: VARIANTS HTOCD LEU-432; VAL-478 AND TYR-1043; CHARACTERIZATION OF VARIANTS HTOCD LEU-432; VAL-478 AND TYR-1043;
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.