ABCA4 p.Cys1502*
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PMID: 14517951
[PubMed]
Jaakson K et al: "Genotyping microarray (gene chip) for the ABCR (ABCA4) gene."
No.
Sentence
Comment
193
A heterozygous 4506C>A (C1502X) nonsense change was detected in one STGD subject from Columbia University.
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ABCA4 p.Cys1502* 14517951:193:24
status: NEW
PMID: 24097981
[PubMed]
Quazi F et al: "Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
No.
Sentence
Comment
223
Finally, the null mutant C1502X associated with Stargardt disease was modified to C1502R to reflect the primary sequence change of the corresponding C1477R mutant in ABCA1 linked to Tangier disease.
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ABCA4 p.Cys1502* 24097981:223:25
status: NEW226 The levels of expression of the ABCA1 and ABCA4 mutants were generally lower than the corresponding WT proteins with the ABCA1 mutants S100C and R2081W and the corresponding ABCA4 mutants S100P and R2107P expressing at levels less than 25% of WT and the remaining mutants expressing in the range of 35-90% of the WT proteins.
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ABCA4 p.Cys1502* 24097981:226:25
status: NEW221 Finally, the null mutant C1502X associated with Stargardt disease was modified to C1502R to reflect the primary sequence change of the corresponding C1477R mutant in ABCA1 linked to Tangier disease.
X
ABCA4 p.Cys1502* 24097981:221:25
status: NEW