ABCA4 p.Gly1975Asp
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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
257
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].
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ABCA4 p.Gly1975Asp 19230850:257:77
status: NEW
PMID: 11804194
[PubMed]
Sun H et al: "Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease."
No.
Sentence
Comment
106
(C) Synthetic substitutions of a conserved glycine in the Walker A motif of NBD-1 (G966D), NBD-2 (G1975D), or both (G966D/G1975D).
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ABCA4 p.Gly1975Asp 11804194:106:98
status: NEWX
ABCA4 p.Gly1975Asp 11804194:106:122
status: NEW114 When purified, reconstituted, and tested for ATPase activity, the synthetic mutations show (1) that mutations in NBD-1 (G966D or K969M), either alone or in combination with mutations in NBD-2 (G966D/G1975D or K969M/K1978M), abolish both basal and retinal-stimulated ATP hydrolysis and (2) that mutations in NBD-2 (G1975D or K1978M) do not alter the basal ATPase activity but lead to inhibition rather than stimulation of ATP hydrolysis by retinal (Fig. 4(C) and (D)), a pattern noted above for the naturally occurring NBD-2 mutations G1961E, G1977S, and E2096K.
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ABCA4 p.Gly1975Asp 11804194:114:199
status: NEWX
ABCA4 p.Gly1975Asp 11804194:114:314
status: NEW