ABCMdb

PMID: 18214793

Westerfeld C, Mukai S
Stargardt's disease and the ABCR gene.
Semin Ophthalmol. 2008 Jan-Feb;23(1):59-65., [PubMed]

Sentences

No. Mutations Sentence Comment

94 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala Certain mutant alleles causing Stargardt`s such as G863A, A1038V, and G1961E appear to be more common and may have altered frequencies in different populations, presumably because of founder effect (Maugeri et al., 1999; Simonelli et al., 2000). Login to comment 107 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn In an international 15-center meta-analysis of the published data on the two most common ABCA4 variants, the D2177N and G1961E alleles, there was a statistically significant but small correlation with AMD. Login to comment 122 ABCA4 p.Arg1300* ABCA4 p.Tyr362* Alternatively, the truncating mutations Y362X and R1300X are associated with milder clinical symptoms (Cremers et al., 1998; Dryja et al., 1998). Login to comment