ABCA4 p.Phe1440Ser

ClinVar: c.4319T>C , p.Phe1440Ser ? , not provided
c.4318T>G , p.Phe1440Val ? , not provided
Predicted by SNAP2: A: D (71%), C: N (53%), D: D (80%), E: D (66%), G: D (80%), H: D (53%), I: N (61%), K: D (63%), L: N (57%), M: N (66%), N: D (71%), P: D (75%), Q: D (53%), R: D (59%), S: D (85%), T: D (59%), V: D (66%), W: N (53%), Y: N (72%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: N,

[switch to compact view]
Comments [show]
Publications
[hide] Roberts LJ, Nossek CA, Greenberg LJ, Ramesar RS
Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.
Mol Vis. 2012;18:280-9. Epub 2012 Feb 1., [PMID:22328824] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Roberts LJ, Ramesar RS, Greenberg J
Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.
Arch Ophthalmol. 2009 Apr;127(4):549-54., [PMID:19365039] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] September AV, Vorster AA, Ramesar RS, Greenberg LJ
Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease.
Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1705-11., [PMID:15161829] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Webster AR, Heon E, Lotery AJ, Vandenburgh K, Casavant TL, Oh KT, Beck G, Fishman GA, Lam BL, Levin A, Heckenlively JR, Jacobson SG, Weleber RG, Sheffield VC, Stone EM
An analysis of allelic variation in the ABCA4 gene.
Invest Ophthalmol Vis Sci. 2001 May;42(6):1179-89., [PMID:11328725] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Am J Hum Genet. 1999 Feb;64(2):422-34., [PMID:9973280] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Fujinami K, Sergouniotis PI, Davidson AE, Wright G, Chana RK, Tsunoda K, Tsubota K, Egan CA, Robson AG, Moore AT, Holder GE, Michaelides M, Webster AR
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
Am J Ophthalmol. 2013 Sep;156(3):487-501.e1. doi: 10.1016/j.ajo.2013.05.003., [PMID:23953153] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Webster AR, Moore AT, Allikmets R, Michaelides M
ABCA4 gene screening by next-generation sequencing in a British cohort.
Invest Ophthalmol Vis Sci. 2013 Oct 11;54(10):6662-74. doi: 10.1167/iovs.13-12570., [PMID:23982839] [PubMed]

Abstract [show]
Comments [show]
Sentences [show]