ABCMdb

PMID: 10527682

Rozet JM, Gerber S, Souied E, Ducroq D, Perrault I, Ghazi I, Soubrane G, Coscas G, Dufier JL, Munnich A, Kaplan J
The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.
Mol Genet Metab. 1999 Oct;68(2):310-5., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val However, the G1961E, A1038V, G2588C alleles represent the most common mutant alleles in Europe and America (18.5, 18.5, and 6%, respectively) (8-11). Login to comment 52 ABCA4 p.Gly863Ala ABCA4 p.Gly863Ala Yet, the guanine at position 2588 is part of the 3Ј splice site of exon 17 and lymphoblastoid cell mRNA analysis of STGD patients carrying the G2588C substitution showed that the resulting mutant ABCR proteins either lacked G863 or contained the G863A missense mutation. Login to comment 57 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn Two of the mutations identified (D2177N and G1961E) showed significantly different incidence between AMD and controls (14). Login to comment