ABCA4 p.Lys678Asn

Predicted by SNAP2: A: N (53%), C: N (53%), D: N (57%), E: N (61%), F: D (53%), G: N (57%), H: N (66%), I: N (61%), L: N (57%), M: N (57%), N: N (78%), P: N (53%), Q: N (72%), R: N (87%), S: N (66%), T: N (78%), V: N (57%), W: D (71%), Y: N (57%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Boulanger-Scemama E, El Shamieh S, Demontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Said S, Sahel JA, Zeitz C, Audo I
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300-3., [PMID:26103963]

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