ABCC7 p.Arg555Ala
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PMID: 20667826
[PubMed]
Thibodeau PH et al: "The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis."
No.
Sentence
Comment
178
The substitution of R555A, R555G, and R555T resulted in a marked reduction in the formation of band C CFTR, whereas the R555K, as measured by Western blotting of transiently transfected HEK-293 cells displays near wild type CFTR maturation.
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ABCC7 p.Arg555Ala 20667826:178:20
status: NEW293 The decrease in wild type CFTR trafficking seen with the R555A/ G/T demonstrates that the basic side chain at the 555 locus is required for proper trafficking.
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ABCC7 p.Arg555Ala 20667826:293:57
status: NEW294 The loss of CFTR trafficking with the R555A/G/T mutations suggests this site defines more than a simple signal motif.
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ABCC7 p.Arg555Ala 20667826:294:38
status: NEW