ABCC7 p.Arg555Thr
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PMID: 15729345
[PubMed]
Vergani P et al: "CFTR channel opening by ATP-driven tight dimerization of its nucleotide-binding domains."
No.
Sentence
Comment
100
To quantify this suspected interaction between Arg 555 and Thr 1246 side chains (Fig. 2a), we applied double mutant-cycle analysis6,21 (see Supplementary Information), after mutating Arg 555 to Lys and Thr 1246 to Asn, both individually and jointly.
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ABCC7 p.Arg555Thr 15729345:100:183
status: NEW
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.Arg555Thr 20667826:178:38
status: NEW