PMID: 17724221

Beit-Ya'acov A, Mizrahi-Meissonnier L, Obolensky A, Landau C, Blumenfeld A, Rosenmann A, Banin E, Sharon D
Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.
Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4308-14., [PubMed]
Sentences
No. Mutations Sentence Comment
88 ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 17724221:88:417
status: NEW
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 To identify these mutations, we screened the DNA of two affected patients for all known ABCA4 sequence variants by using the Asper biotech ABCA4 mutation detection microarray.6 The screen revealed seven sequence changes (c.1269CϾT [p.His423His], c.1356ϩ5delG, c.4773ϩ48CϾT, c.6069CϾT [p.Ile2023Ile], c.6249CϾT [p.Ile2083Ile], c.6285TϾC [p.Asp2095Asp], and c.6764GϾT [p.Ser2255Ile]) that had been previously interpreted as nonpathogenic changes. Login to comment 172 ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 17724221:172:432
status: NEW
view ABCA4 p.Gly863Ala details
 Analysis of such mutations is challenging because of technical difficulties in amplifying ABCA4 mRNA from readily available tissues, such as peripheral blood and lymphoblastoid cells.4 In only one study thus far15 has reliable splicing data been obtained through this system, leading to an unexpected result: a frequent base substitution (c.2588GϾC) in the first base of exon 17, initially interpreted as a missense mutation (Gly863Ala), created a splicing defect, resulting in a deletion of one amino acid (Gly863). Login to comment