ABCC6 p.Asp718Gly
| Predicted by SNAP2: | A: N (78%), C: N (72%), E: N (93%), F: D (53%), G: N (53%), H: N (82%), I: N (53%), K: N (72%), L: N (66%), M: N (57%), N: N (93%), P: D (66%), Q: N (82%), R: N (72%), S: N (87%), T: N (87%), V: N (78%), W: D (66%), Y: D (53%), |
| Predicted by PROVEAN: | A: D, C: D, E: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, R: D, S: N, T: D, V: D, W: D, Y: D, |
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[hide] Severe and diffuse arterial lesions in a patient w... J Am Coll Cardiol. 2012 May 29;59(22):1991. doi: 10.1016/j.jacc.2011.11.067. Zuily S, Angioi K, Fauret AL, Golmard L, Saadi L, Huttin O, Anxionnat R, Evon P, Marie PY, Jeunemaitre X, Wahl D
Severe and diffuse arterial lesions in a patient with pseudoxanthoma elasticum.
J Am Coll Cardiol. 2012 May 29;59(22):1991. doi: 10.1016/j.jacc.2011.11.067., [PMID:22624841]
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No. Sentence Comment
6 Patient was compound heterozygous for 2 mutations in exons 17 (c.2153Ab0e;G, p.Asp718Gly) (D) and 24 (c.3421Cb0e;T, p.Arg1141X) (E) of the ABCC6 gene.
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ABCC6 p.Asp718Gly 22624841:6:82
status: NEW7 The Asp718Gly mutation has not been described before, and its functionality is supported by its location in the ATPase domain, bioinformatics prediction tools, and cosegregation of the 2 mutations with the disease (F).
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ABCC6 p.Asp718Gly 22624841:7:4
status: NEW