ABCMdb

ABCA4 p.Pro862Leu

ClinVar:	c.2585C>T , p.Pro862Leu ? , not provided
Predicted by SNAP2:	A: N (57%), C: N (53%), D: N (53%), E: N (53%), F: D (66%), G: D (59%), H: N (53%), I: D (59%), K: N (53%), L: D (63%), M: D (59%), N: N (53%), Q: N (61%), R: D (59%), S: N (57%), T: N (57%), V: N (53%), W: D (80%), Y: D (59%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Analysis of the Stargardt disease gene (ABCR) in a... Ophthalmology. 1999 Aug;106(8):1531-6. De La Paz MA, Guy VK, Abou-Donia S, Heinis R, Bracken B, Vance JM, Gilbert JR, Gass JD, Haines JL, Pericak-Vance MA
Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Ophthalmology. 1999 Aug;106(8):1531-6., [PMID:10442900]

Abstract [show]
PURPOSE: Age-related macular degeneration (AMD) is a complex genetic disorder and the leading cause of severe vision loss in the elderly. The Stargardt disease gene (ABCR) has been proposed as a major genetic risk factor in AMD. The purpose of this study was to evaluate the authors' AMD population for the specific ABCR variants proposed previously as genetic risk factors for AMD. METHODS: The authors screened their AMD population (159 familial cases from 112 multiplex families and 53 sporadic cases) and 56 racially matched individuals with no known history of AMD from the same clinic population for evidence of the ABCR variants. Grading of disease severity was performed according to a standard protocol. Patients with extensive intermediate drusen or large soft drusen, drusenoid retinal pigment epithelial (RPE) detachments, geographic atrophy of the RPE, or evidence of exudative maculopathy were considered affected. Analysis for variants was performed by polymerase chain reaction amplification of individual exons of the ABCR gene with flanking primers and a combination of single-strand conformation polymorphism, heteroduplex analysis, and high-performance liquid chromatography. All abnormal conformers detected using these techniques were characterized by direct sequencing. RESULTS: The authors identified only two of the previously reported variants in their study population. Both variants occurred in sporadic cases, and none was found in familial cases or the randomly selected population. In addition, the authors identified several newly described polymorphisms and variants in both the AMD and control populations. CONCLUSIONS: Based on these initial findings, the authors suggest that ABCR is not a major genetic risk factor for AMD in their study population. Additional genetic studies are needed to more fully evaluate the role of ABCR in AMD.

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Sentences [show]
No. Sentence Comment
89 One variant (P862L) was identified in only seven affected individuals. Login to comment
120 Pedigree showing variant P862L. Login to comment
131 of Controls (%) P862L 2682 C 3 T 2683 C 3 T 3/112 (3.6) 3/53 (3.8) 0/56 (0) T901A 2782 A 3 G 2/112 (1.8) 0/53 (0) 1/56 (1.8) N1868I 5684 A 3 T 3/112 (2.7) 4/53 (7.5) 4/56 (7.1) L1948P* 5924 T 3 C 112/112 (100) 53/53 (100) 56/56 (100) L1948P* 5924 T 3 C 5925 G 3 A 110/112 (98) 51/53 (96) 54/56 (96) I2023I 6150 C 3 T 9/112 (8) 5/53 (9.4) 3/56 (5.4) L2026L 6160 C 3 T 0/112 (0) 0/53 (0) 0/56 (0) I2083I 6330 C 3 T 9/112 (8) 4/53 (7.5) 5/56 (8.9) * Variants identified in probands only. Login to comment