ABCC9 p.Ala478Val

ClinVar: c.1433C>T , p.Ala478Val D , Pathogenic
Predicted by SNAP2: C: N (66%), D: N (61%), E: N (82%), F: N (53%), G: N (87%), H: N (82%), I: N (82%), K: N (93%), L: N (72%), M: N (66%), N: N (87%), P: N (53%), Q: N (87%), R: N (82%), S: N (97%), T: N (93%), V: N (78%), W: D (71%), Y: D (59%),
Predicted by PROVEAN: C: N, D: N, E: N, F: D, G: N, H: D, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, R: D, S: N, T: N, V: D, W: D, Y: D,

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[hide] van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A
Cantu syndrome is caused by mutations in ABCC9.
Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17., [PMID:22608503]

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[hide] Cooper PE, Sala-Rabanal M, Lee SJ, Nichols CG
Differential mechanisms of Cantu syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
J Gen Physiol. 2015 Dec;146(6):527-40. doi: 10.1085/jgp.201511495., [PMID:26621776]

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