ABCC6 p.Arg1141Trp

ClinVar: c.3421C>T , p.Arg1141* D , Pathogenic
LOVD-ABCC6: p.Arg1141* D
Predicted by SNAP2: A: N (72%), C: N (82%), D: N (53%), E: N (61%), F: D (71%), G: N (87%), H: N (87%), I: N (57%), K: N (93%), L: N (57%), M: N (57%), N: N (82%), P: D (63%), Q: N (93%), S: N (87%), T: N (78%), V: N (57%), W: D (80%), Y: D (66%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: N, N: N, P: N, Q: N, S: N, T: N, V: D, W: D, Y: D,

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[hide] Zhou Y, Jiang Q, Takahagi S, Shao C, Uitto J
Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum.
J Invest Dermatol. 2013 Dec;133(12):2672-7. doi: 10.1038/jid.2013.234. Epub 2013 May 23., [PMID:23702584]

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