ABCC6 p.Ser1049Ala

LOVD-ABCC6: p.Ser1049Ala D
Predicted by SNAP2: A: N (72%), C: D (66%), D: D (85%), E: D (80%), F: D (85%), G: N (66%), H: D (80%), I: D (80%), K: D (85%), L: D (85%), M: D (75%), N: D (71%), P: D (85%), Q: D (71%), R: D (80%), T: N (53%), V: D (75%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: D, G: N, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: D, R: D, T: N, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
[hide] Schulz V, Hendig D, Henjakovic M, Szliska C, Kleesiek K, Gotting C
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Hum Mutat. 2006 Aug;27(8):831., [PMID:16835894]

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