ABCC4 p.Ser794Leu
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PMID: 23766510
[PubMed]
Cheepala SB et al: "Crucial role for phylogenetically conserved cytoplasmic loop 3 in ABCC4 protein expression."
No.
Sentence
Comment
199
Notably, disease-related point mutations in CFTR CL3 at positions S945L and H949Y (Fig. 5A) (44) affected maturation of CFTR (26).
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ABCC4 p.Ser794Leu 23766510:199:277
status: NEW200 Because these two amino acids are adjacent to Thr-796 in ABCC4 and mostly conserved with CFTR, we hypothesized that this region of CL3 might be generally important to ABCC protein stability. Using site-directed mutagenesis, we generated the analogous mutations in human ABCC4 (S794L and H798Y) and ZF Abcc4 (A802L and H806Y).
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ABCC4 p.Ser794Leu 23766510:200:277
status: NEW202 ABCC4 S794L and H796Y as well as ZF Abcc4 A802L and H806Y substitutions affected both protein expression and highly reduced the levels of the mature band c (Fig. 5, C and E).
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ABCC4 p.Ser794Leu 23766510:202:6
status: NEW249 E, immunoblot of whole cell lysates (100 òe;g of protein per lane) prepared from NIH3T3 cells transfected with human ABCC4 and ABCC4 mutants (T796M, S794L, and H798Y), and these blots were probed with anti-GFP antibody.
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ABCC4 p.Ser794Leu 23766510:249:153
status: NEW201 ABCC4 S794L and H796Y as well as ZF Abcc4 A802L and H806Y substitutions affected both protein expression and highly reduced the levels of the mature band c (Fig. 5, C and E).
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ABCC4 p.Ser794Leu 23766510:201:6
status: NEW248 E, immunoblot of whole cell lysates (100 òe;g of protein per lane) prepared from NIH3T3 cells transfected with human ABCC4 and ABCC4 mutants (T796M, S794L, and H798Y), and these blots were probed with anti-GFP antibody.
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ABCC4 p.Ser794Leu 23766510:248:153
status: NEW