ABCA4 p.Ser1071Val
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PMID: 19230850
[PubMed]
Molday RS et al: "The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration."
No.
Sentence
Comment
134
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).
X
ABCA4 p.Ser1071Val 19230850:134:118
status: NEW225 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).
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ABCA4 p.Ser1071Val 19230850:225:69
status: NEW