ABCMdb

PMID: 12754711

Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR
An ABCA4 genomic deletion in patients with Stargardt disease.
Hum Mutat. 2003 Jun;21(6):636-44., [PubMed]

Sentences

No. Mutations Sentence Comment

117 ABCA4 p.Arg1640Trp ABCA4 p.Trp1408Arg We used three plasmid constructs that encoded recombinant ABCR proteins for transient transfection into human HEK 293Tcells: the complex mutation [W1408R; R1640W] [Shroyer et al., 2001a], the deletion G885_H915del, and wild type. Login to comment 123 ABCA4 p.Arg1640Trp ABCA4 p.Trp1408Arg This result was comparable to expression of the ABCA4 observed with a retinitis pigmentosa associated null complex mutation [W1408R; R1640W] (Fig. 4) [Shroyer et al., 2001a]. Login to comment 140 ABCA4 p.Arg1640Trp ABCA4 p.Trp1408Arg Western immunoblotting analysis of the ABCR protein with G885_H915del showed a substantial reduction of the protein expression, comparable to the reduction observed for the complex mutation [W1408R; R1640W] [Shroyer et al., 2001a]. Login to comment 151 ABCA4 p.Arg1640Trp ABCA4 p.Trp1408Arg 1is the complex ABCR allele [W1408R; R1640W],2 is theABCR allele with G885_H915del, and 3 is an ABCR wild-type allele. Login to comment