ABCA4 p.Glu1399Lys

ClinVar: c.4195G>A , p.Glu1399Lys D , Pathogenic
Predicted by SNAP2: A: N (53%), C: N (53%), D: N (72%), F: D (53%), G: D (53%), H: N (53%), I: N (53%), K: D (59%), L: N (53%), M: D (53%), N: N (57%), P: N (57%), Q: N (57%), R: N (53%), S: N (61%), T: N (66%), V: N (61%), W: D (75%), Y: D (53%),
Predicted by PROVEAN: A: D, C: D, D: N, F: D, G: D, H: N, I: D, K: N, L: D, M: D, N: D, P: D, Q: N, R: N, S: D, T: D, V: D, W: D, Y: D,

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[hide] Reinhard J, Messias A, Dietz K, Mackeben M, Lakmann R, Scholl HP, Apfelstedt-Sylla E, Weber BH, Seeliger MW, Zrenner E, Trauzettel-Klosinski S
Quantifying fixation in patients with Stargardt disease.
Vision Res. 2007 Jul;47(15):2076-85. Epub 2007 Jun 11., [PMID:17562343]

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[hide] Jaakson K, Zernant J, Kulm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FP, Allikmets R
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Hum Mutat. 2003 Nov;22(5):395-403., [PMID:14517951]

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[hide] Scholl HP, Besch D, Vonthein R, Weber BH, Apfelstedt-Sylla E
Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1.
Invest Ophthalmol Vis Sci. 2002 Apr;43(4):1248-56., [PMID:11923272]

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[hide] Scholl HP, Kremers J, Vonthein R, White K, Weber BH
L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus.
Invest Ophthalmol Vis Sci. 2001 May;42(6):1380-9., [PMID:11328755]

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[hide] Rivera A, White K, Stohr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl HP, Apfelstedt-Sylla E, Weber BH
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
Am J Hum Genet. 2000 Oct;67(4):800-13. Epub 2000 Aug 24., [PMID:10958763]

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[hide] Simonelli F, Testa F, de Crecchio G, Rinaldi E, Hutchinson A, Atkinson A, Dean M, D'Urso M, Allikmets R
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
Invest Ophthalmol Vis Sci. 2000 Mar;41(3):892-7., [PMID:10711710]

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