ABCMdb

PMID: 10746567

Shroyer NF, Lewis RA, Lupski JR
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
Hum Genet. 2000 Feb;106(2):244-8., [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCA4 p.Arg572Gln Pedigrees AR31 and AR128 carried the alteration 1715G → A (encoding the missense mutation R572Q) in cis to 2588 C and 2828 A. Login to comment 26 ABCA4 p.Arg1898His Pedigrees AR265 and AR305 carried the alteration 5693G → A (encoding the missense mutation R1898H) in cis to 2588 C and 2828 A (Fig.1). Login to comment 33 ABCA4 p.Tyr340Asp Age (in years) of onset of visual impairment for each STGD1-affected individual is given below their genotypes ation 1018T → G encoding the missense mutation Y340D; AR128 carries the alteration 2894A → G encoding the missense mutation N965 S; AR290 carries the alteration 3113C → T encoding the missense mutation A1038 V; AR307 carries the splicing mutation 5196+1G → A; AR314 carries the splicing mutation 5714+5G → A; AR336 carries the splicing mutation 5898+1G → T. Login to comment 40 ABCA4 p.Tyr340Asp Thus, the mother is compound heterozygous for the missense mutations Y340D and P1780 A. Login to comment 47 ABCA4 p.Arg572Gln The mutation 1715G → A encodes a missense substitution of glutamine for arginine at amino acid residue 572. Login to comment 49 ABCA4 p.Arg572Pro ABCA4 p.Arg572Pro We have shown previously that another unrelated STGD1 family carries a mutation of arginine 572 to proline (R572P) with no other mutations on that chromosome (Lewis et al. 1999), suggesting a pathogenic role for alterations of this amino acid. Login to comment 52 ABCA4 p.Arg1898His The mutation 5693G → A encodes a missense substitution of arginine to histidine at amino acid residue 1898. Login to comment