ABCMdb

ABCA4 p.Asn965Lys

ClinVar:	c.2893A>G , p.Asn965Asp ? , not provided
Predicted by SNAP2:	A: D (66%), C: D (66%), D: D (95%), E: N (53%), F: D (75%), G: D (53%), H: N (57%), I: D (66%), K: N (57%), L: D (71%), M: D (71%), P: D (66%), Q: N (53%), R: N (57%), S: D (95%), T: N (61%), V: D (66%), W: D (91%), Y: D (75%),
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, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Phenotypic and genetic spectrum of Danish patients... Ophthalmic Genet. 2012 Dec;33(4):225-31. doi: 10.3109/13816810.2011.643441. Epub 2012 Jan 9. Duno M, Schwartz M, Larsen PL, Rosenberg T
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
Ophthalmic Genet. 2012 Dec;33(4):225-31. doi: 10.3109/13816810.2011.643441. Epub 2012 Jan 9., [PMID:22229821]

Abstract [show]
Background: Pathogenic variations in the ABCA4 gene were originally recognized as genetic background for the autosomal recessive disorders Stargardt disease and fundus flavimaculatus, but have expanded to embrace a diversity of retinal diseases, giving rise to the new diagnostic term, ABCA4-related retinopathy. Diagnostic genotyping of ABCA4 is complicated by the large size of the gene and the existence of approximately 600 known pathogenic variations, along with numerous rare polymorphisms. A commercial diagnostic array-based assay has been developed targeting known mutations, however a conclusive genetic diagnosis must rely on a comprehensive genetic screening as the mutation spectrum of ABCA4-related retinopathies continues to expand. Material and methods: Among 161 patients with a Stargardt-related phenotype previously assessed with the commercial ABCA4 mutation microarray, we analyzed the ABCA4 gene with High-resolution melting (HRM) in patients in whom the array analysis identified either a heterozygous mutation (n = 50) or no mutation (n = 30). Results: The HRM method detected each of the already known mutations and polymorphisms. We identified the second ABCA4 mutation in 31 of 50 heterozygous patients (62%). Several novel mutations were identified of which four were identified multiple times. The recurrent novel mutations were subsequently assessed among the 30 patients with possible ABCA4-related diseases, previously found to be negative for known ABCA4 mutations by array analysis. In total, 30 different mutations were identified of which 21 have not been described before. Conclusion: Scandinavian patients with ABCA4-related retinopathy appear to have a distinct mutation spectrum, which can be identified in patients of diverse clinical phenotypes.

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Sentences [show]
No. Sentence Comment
89 Encouraged by the result and the identification Table 2 Mutations identified by selected HRM screening of 30 patients without Asper-mutations Patient DNA Protein Exon/intron Ref D015 c.3380G>A p.G1127E 23 New* c.6478A>G p.K2160E 47 New* c.1654G>A p.V552I 12 29 D048 c.3765_3766dupTG na 25 New c.5693G>A p.R1898H 40 28 c.1964T>G p.F655C 14 30 D128 c.2408delG na 16 New* c.4243A>C p.T1415P 28 New D133 c.1529T>G p.L510R 11 New* c.6386 + 1G>A na 46 New* D061 c.1529T>G p.L510R 11 New* D102 c.2895T>G p.N965K 19 New D183 c.4069G>A p.A1357T 27 New D190 c.2408delG na 16 New* na; not applicable, *Identified during the initial mutation screen. Login to comment
91 Encouraged by the result and the identification Table 2ߒ Mutations identified by selected HRM screening of 30 patients without Asper-mutations Patient DNA Protein Exon/intron Ref D015 c.3380G>A p.G1127E 23 New* c.6478A>G p.K2160E 47 New* c.1654G>A p.V552I 12 29 D048 c.3765_3766dupTG na 25 New c.5693G>A p.R1898H 40 28 c.1964T>G p.F655C 14 30 D128 c.2408delG na 16 New* c.4243A>C p.T1415P 28 New D133 c.1529T>G p.L510R 11 New* c.6386ߙ+ߙ1G>A na 46 New* D061 c.1529T>G p.L510R 11 New* D102 c.2895T>G p.N965K 19 New D183 c.4069G>A p.A1357T 27 New D190 c.2408delG na 16 New* na; not applicable, *Identified during the initial mutation screen. Login to comment