ABCMdb

PMID: 19230850

Molday RS, Zhong M, Quazi F
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.
Biochim Biophys Acta. 2009 Jul;1791(7):573-83. Epub 2009 Feb 20., [PubMed]

Sentences

No. Mutations Sentence Comment

134 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Arg2107His ABCA4 p.Gly1977Ser ABCA4 p.Leu1971Arg ABCA4 p.Asn965Ser ABCA4 p.Arg2106Cys ABCA4 p.Arg2038Trp ABCA4 p.Leu2027Phe ABCA4 p.Arg1108Cys ABCA4 p.Glu1087Lys ABCA4 p.Arg2077Trp ABCA4 p.Ser1071Val ABCA4 p.Thr971Asn Disease mutations, which are substituted in Stargardt disease, are shown in red italics - NBD1 (N965S, T971N, A1038V, S1071V, E1087K, R1108C); NBD2 (G1961E, L1971R, G1977S, L2027F, R2038W, R2077W, R2106C, R2107H). Login to comment 142 ABCA4 p.Lys1978Met ABCA4 p.Lys969Met The basal and retinal activated activities of both NBDs were also investigated by expressing and analyzing ABCA4 containing Walker A mutations (K969M for NBD1) and K1978M for NBD2) known to inhibit ATP hydrolysis [35,37]. Login to comment 145 ABCA4 p.Lys1978Met ABCA4 p.Lys1978Met ABCA4 p.Lys969Met ABCA4 p.Lys969Met The double K969M/ K1978M double mutant and the K969M single mutant showed no basal or retinal stimulated ATPase activity, whereas the K1978M mutant in NBD2 exhibited basal ATPase activity but not retinal stimulated activity. Login to comment 225 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Arg2107His ABCA4 p.Gly1977Ser ABCA4 p.Leu1971Arg ABCA4 p.Asn965Ser ABCA4 p.Arg2106Cys ABCA4 p.Arg2038Trp ABCA4 p.Leu2027Phe ABCA4 p.Arg1108Cys ABCA4 p.Glu1087Lys ABCA4 p.Arg1129Leu ABCA4 p.Arg2077Trp ABCA4 p.Ser1071Val ABCA4 p.Thr971Asn A subset of missense mutations reside in NBD1 (N965S, T971N, A1038V, S1071V, E1087K, R1108C, R1129L) and NBD2 (G1961E, L1971R, G1977S, L2027F, R2038W, R2077W, R2106C, R2107H). Login to comment 226 ABCA4 p.Gly1977Ser ABCA4 p.Leu1971Arg ABCA4 p.Asn965Ser ABCA4 p.Glu1087Lys ABCA4 p.Thr971Asn Several of these, including N965S, T971N, E1087K, L1971R, G1977S, reside inside or close to the Walker A and B motifs [29,90,92,95,97,100,102]. Login to comment 257 ABCA4 p.Leu541Pro ABCA4 p.Lys1978Met ABCA4 p.Glu2096Lys ABCA4 p.Thr971Asn ABCA4 p.Gly1975Asp Some mutations affect only the retinal activated ATPase activity such as the G1975D and K1978M mutations in NBD2, whereas a large number of mutants affect both the basal and retinal stimulated ATPase activity of ABCA4 as exemplified by the L541P mutation in ECD1, T971N in NBD1 and E2096K in NBD2 [35]. Login to comment