ABCC9 p.Gly380Cys

Predicted by SNAP2: A: D (66%), C: D (66%), D: D (85%), E: D (85%), F: D (85%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: D (85%), N: D (85%), P: D (91%), Q: D (80%), R: D (85%), S: D (71%), T: D (75%), V: D (85%), W: D (85%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[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]

Abstract [show]
Comments [show]
Sentences [show]