ABCA4 p.Gly221Arg

Predicted by SNAP2: A: N (53%), C: D (63%), D: D (63%), E: D (53%), F: D (75%), H: N (53%), I: D (66%), K: D (53%), L: D (71%), M: N (57%), N: N (57%), P: D (59%), Q: N (53%), R: D (53%), S: N (72%), T: N (57%), V: D (63%), W: D (85%), Y: D (71%),
Predicted by PROVEAN: A: N, C: D, D: N, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: D, R: D, S: N, T: N, V: D, W: D, Y: D,

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[hide] Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez MA, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso C
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
Br J Ophthalmol. 2009 Oct;93(10):1359-64. Epub 2008 Oct 31., [PMID:18977788]

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