ABCMdb

PMID: 15696369

Yatsenko AN, Wiszniewski W, Zaremba CM, Jamrich M, Lupski JR
Evolution of ABCA4 proteins in vertebrates.
J Mol Evol. 2005 Jan;60(1):72-80., [PubMed]

Sentences

No. Mutations Sentence Comment

130 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala ABCA4 p.Gly863Ala ABCA4 p.Arg212Cys ABCA4 p.Arg212Cys ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Arg1640Trp ABCA4 p.Arg1640Trp ABCA4 p.Leu2027Phe ABCA4 p.Leu2027Phe ABCA4 p.Thr1526Met ABCA4 p.Thr1526Met ABCA4 p.Arg1108Cys ABCA4 p.Arg1108Cys ABCA4 p.Trp1408Arg ABCA4 p.Trp1408Arg ABCA4 p.Asp645Asn ABCA4 p.Asp645Asn As anticipated, the most frequently occurring STGD- associated missense ABCA4 alterations (R212C, L541P, D645N, G863A, A1038V, R1108C, R1380L, W1408R, T1526M, R1640W, G1961E, L2027F, and L2030Q) map to highly conserved regions. Login to comment 131 ABCA4 p.Asp2177Asn ABCA4 p.Ile1562Thr Missense AMD-associated ABCA4 mutations D2177N and I1562T map to nonconserved sites. Login to comment