ABCA4 p.Lys969Ala
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PMID: 16533065
[PubMed]
Biswas-Fiss EE et al: "Interaction of the nucleotide binding domains and regulation of the ATPase activity of the human retina specific ABC transporter, ABCR."
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74
The following complementary oligonucleotides were used as mutagenic primers to generate the mutant NBD1 and NBD2 proteins: NBD1Pro940Arg (5'-GGT AAA GAT TTT TGA GCG CTG TGG CCG GCC AGC TG-3'), NBD1 Walker A, K969A, T970A (5'-CAA TGG AGC TGG GGC AGC CAC CAC CTT GTC CAT CC-3'), NBD2 Walker A, K1978A, T1979A (5'-GAA TGG TGC CGG CGC AGC AAC CAC ATT CAA GAT GC-3'), and NBD2 R2038W (5'-CTT TAC CTT TAT GCC AGG CTT CGA GGT GTA CCA GC-3').
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ABCA4 p.Lys969Ala 16533065:74:208
status: NEW199 The affinity of interaction decreased under all conditions examined, as determined by comparison of the Kd values (Table Table 2: Modulation of ATPase Activities of NBD1‚NBD2 Complexes by Site-Specific Mutations NBD1‚NBD2 mutation domain NBD1‚NBD2 ATPasea (pmol/min) NBD1‚NBD2 ATPaseexptl (pmol/min) NBD1‚NBD2 ATPasecalcd b (pmol/min) motif/disease NBD1mut‚NBD2wt K969A, T970A NBD1 1.9 ( 0.4/5.3 ( 0.1 5.1 ( 0.1 7.2 synthetic NBD1wt‚NBD2mut K1978A, 1979A NBD2 3.1 ( 0.2/1.6 ( 0.3 1.5 ( 0.2 4.7 synthetic NBD1mut‚NBD2wt P940R NBD1 1.9 ( 0.3/5.2 ( 0.2 4.3 ( 0.1 7.1 AMD NBD1wt‚NBD2mut R2038W NBD2 3.1 ( 0.1/2.0 ( 0.2 4.4 ( 0.2 5.1 STGD NBD1wt‚NBD2wt wild type N/A 3.0 ( 0.3/5.4 ( 0.1 5.30 ( 0.3 8.4 none a Experimental ATPase activity corresponding to 6 pmol of the individual domains, NBD1 and NBD2, respectively.
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ABCA4 p.Lys969Ala 16533065:199:406
status: NEW