ABCA4 p.Gly966Asp
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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.Gly966Asp 11804194:106:83
status: NEWX
ABCA4 p.Gly966Asp 11804194:106:116
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.Gly966Asp 11804194:114:120
status: NEWX
ABCA4 p.Gly966Asp 11804194:114:193
status: NEW