ABCC7 p.Leu346Arg
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PMID: 23835419
[PubMed]
Loo TW et al: "Corrector VX-809 stabilizes the first transmembrane domain of CFTR."
No.
Sentence
Comment
168
Examples of the different effects of the arginines such as no effect (I344R), small reduction in maturation (V345R), large reduction in maturation (F337R), and no maturation (L346R) are shown in Fig. 4B. The TM6 arginine mutagenesis results were projected on a helical wheel (Fig. 4C).
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ABCC7 p.Leu346Arg 23835419:168:175
status: NEW204 (B) Examples of immunoblots of wild-type CFTR and mutants I344R, V345R, F337R, and L346R showing the various effects of arginines introduced into TM6.
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ABCC7 p.Leu346Arg 23835419:204:83
status: NEW
PMID: 24412276
[PubMed]
Loo TW et al: "The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds."
No.
Sentence
Comment
254
Accordingly, wild-type CFTR and mutants F229R, F236R, F310R, F312R, L346R, V350R and F354R were expressed in HEK 293 cells and whole cell SDS extracts were subjected to immunoblot analysis.
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ABCC7 p.Leu346Arg 24412276:254:68
status: NEW286 (A) Whole cell SDS extracts of cells expressing wild-type (WT), F229R, F236R, F310R, F312R, L346R, V350R and F354R CFTR mutants were subjected to immunoblot analysis.
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ABCC7 p.Leu346Arg 24412276:286:92
status: NEW