ABCMdb

PMID: 15671300

Umeda S, Ayyagari R, Allikmets R, Suzuki MT, Karoukis AJ, Ambasudhan R, Zernant J, Okamoto H, Ono F, Terao K, Mizota A, Yoshikawa Y, Tanaka Y, Iwata T
Early-onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree: exclusion of 13 candidate genes and loci.
Invest Ophthalmol Vis Sci. 2005 Feb;46(2):683-91., [PubMed]

Sentences

No. Mutations Sentence Comment

102 ABCA4 p.Arg1300Gln ABCA4 p.Lys223Gln Surprisingly, the Lys223Gln and Arg1300Gln changes reported to be associated with Stargardt disease in humans were observed in the homozygous state in TABLE 3. Login to comment 103 ABCA4 p.Arg1300Gln ABCA4 p.Lys223Gln Surprisingly, the Lys223Gln and Arg1300Gln changes reported to be associated with Stargardt disease in humans were observed in the homozygous state in TABLE 3. Login to comment 106 ABCA4 p.Ile1615Val In addition, the mutation analysis revealed heterozygous amino acid changes at five positions-Leu424Val, Arg1017His, Val1114Ile, Ile1615Val, and Pro2238Gln-in both affected and normal monkeys. Login to comment 180 ABCA4 p.Arg1300Gln ABCA4 p.Lys223Gln In the ABCA4 sequence of a normal monkey, we found two amino acid replacements (K223Q and R1300Q) that are associated with Stargardt disease in humans. Login to comment 182 ABCA4 p.Arg1300Gln ABCA4 p.Lys223Gln One explanation of this discrepancy could be that K223Q and R1300Q are not causing the disease phenotype in humans, but rather represent markers linked to disease-causing mutations somewhere else in the gene. Login to comment