PMID: 20633576

Molday RS, Zhang K
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration.
Prog Lipid Res. 2010 Oct;49(4):476-92. Epub 2010 Jul 13., [PubMed]
Sentences
No. Mutations Sentence Comment
2042 ABCA4 p.Lys1978Met
X
ABCA4 p.Lys1978Met 20633576:2042:122
status: NEW
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ABCA4 p.Lys969Met
X
ABCA4 p.Lys969Met 20633576:2042:104
status: NEW
view ABCA4 p.Lys969Met details
 Heterologous expression of ABCA4 has been used to study the effect of mutations in the Walker A motifs (K969M in NBD1 and K1978M in NBD2) on the basal and retinal activated activities of purified and reconstituted ABCA4 [114]. Login to comment 2044 ABCA4 p.Lys1978Met
X
ABCA4 p.Lys1978Met 20633576:2044:19
status: NEW
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ABCA4 p.Lys969Met
X
ABCA4 p.Lys969Met 20633576:2044:13
status: NEW
view ABCA4 p.Lys969Met details
ABCA4 p.Lys969Met
X
ABCA4 p.Lys969Met 20633576:2044:48
status: NEW
view ABCA4 p.Lys969Met details
 However, the K969M/K1978M double mutant and the K969M single mutant showed little or no basal or retinal-stimulated ATPase activity. Login to comment 2045 ABCA4 p.Lys1978Met
X
ABCA4 p.Lys1978Met 20633576:2045:4
status: NEW
view ABCA4 p.Lys1978Met details
 The K1978M single mutant exhibited basal ATPase activity but no retinal-stimulated activity. Login to comment