ABCMdb

PMID: 16644365

Michaelides M, Hardcastle AJ, Hunt DM, Moore AT
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
Surv Ophthalmol. 2006 May-Jun;51(3):232-58., [PubMed]

Sentences

No. Mutations Sentence Comment

235 ABCA4 p.Ala1038Val In the first group of 12 subjects, four harbored an Ala1038Val change, one of the most common ABCA4 variants observed in Stargardt disease (STGD). Login to comment 236 ABCA4 p.Gly1961Glu ABCA4 p.Leu1201Arg Of the four patients exhibiting minimal fundus pigmentary changes, two harbored a Leu1201Arg variant.45 The most common ABCA4 STGD variant, Gly1961Glu, was not observed in this cohort. Login to comment 245 ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro It is currently believed that homozygous null mutations cause the most severe phenotype of autosomal recessive retinitis pigmentosa (RP), combinations of a null mutation with a moderate missense mutation result in autosomal recessive CORD, and combinations of null/mild missense or two moderate missense mutations cause STGD/FFM (Fundus Flavimaculatus).197 Assessment of functional activity of mutant ABCA4 transporter has been performed by Sun et al.190 For example, the missense mutations, Leu541Pro and Gly1961Glu, are associated with severely reduced but not abolished ATPase activity, whereas nonsense mutations would be predicted to have a more severe effect on protein function. Login to comment