ABCA4 p.Phe642Ile

Predicted by SNAP2: A: D (66%), C: N (61%), D: D (71%), E: D (53%), G: D (75%), H: N (57%), I: N (72%), K: D (53%), L: N (66%), M: N (78%), N: D (59%), P: D (71%), Q: N (57%), R: D (53%), S: D (53%), T: N (53%), V: N (57%), W: N (61%), Y: N (82%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, G: 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: N, Y: N,

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[hide] Jin X, Qu LH, Meng XH, Xu HW, Yin ZQ
Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.
Mol Vis. 2014 Apr 26;20:553-60. eCollection 2014., [PMID:24791140]

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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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