ABCC9 p.Arg1154Gln

ClinVar: c.3461G>A , p.Arg1154Gln D , Pathogenic
c.3460C>T , p.Arg1154Trp D , Pathogenic
Predicted by SNAP2: A: D (63%), C: D (75%), D: D (91%), E: D (80%), F: D (66%), G: D (63%), H: D (85%), I: N (57%), K: D (59%), L: N (66%), M: N (57%), N: D (63%), P: D (85%), Q: D (53%), S: D (53%), T: N (53%), V: N (57%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: N, C: D, D: D, E: N, F: D, G: D, H: N, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, S: N, T: N, V: N, 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] Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E
Dominant missense mutations in ABCC9 cause Cantu syndrome.
Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324., [PMID:22610116]

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