ABCA4 p.Gly172Ser

ClinVar: c.514G>A , p.Gly172Ser ? , not provided
Predicted by SNAP2: A: D (59%), C: D (66%), D: D (63%), E: D (63%), F: D (80%), H: D (53%), I: D (75%), K: D (63%), L: D (75%), M: D (75%), N: N (57%), P: D (66%), Q: D (53%), R: D (63%), S: N (93%), T: N (53%), V: D (71%), W: D (85%), Y: D (71%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, H: N, I: D, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D,

[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]

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

[hide] Passerini I, Sodi A, Giambene B, Mariottini A, Menchini U, Torricelli F
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
Eye (Lond). 2010 Jan;24(1):158-64. Epub 2009 Mar 6., [PMID:19265867]

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

[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]

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