ABCC7 p.Ser624Ala
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PMID: 20435887
[PubMed]
Billet A et al: "C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation."
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2
We mutated CFTR amino acids located in the betac5-betac6 hairpin, within the betac5 strand (H620Q), within the beta-turn linking the two beta strands (E621G, G622D), as well as within (S623A, S624A) and at the extremity (G628R) of the betac6 strand.
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ABCC7 p.Ser624Ala 20435887:2:192
status: NEW3 Functional analysis reveals that the current density was largely reduced for G622D and G628R channels compared with wt CFTR, similar for E621G and S624A, but increased for H620Q and S623A.
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ABCC7 p.Ser624Ala 20435887:3:147
status: NEW5 In addition, in presence of the CFTR activator benzo[c]quinolizinium, the CFTR current density compared with that of wt CFTR was abolished for G622D and G628R channels, but similar for H620Q, S623A, and S624A or slightly increased for E621G.
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ABCC7 p.Ser624Ala 20435887:5:203
status: NEW33 We have mutated these two glycine residues in aspartic acid (G622D) and arginine (G628R) and considered other mutants in their neighborhood (H620Q, E621G, S623A, and S624A).
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ABCC7 p.Ser624Ala 20435887:33:166
status: NEW87 RESULTS Expression of the NBD1 C-terminal CFTR Mutants-We have introduced EGFP-tagged CFTR proteins into HEK293 cells, wt CFTR and six CFTR mutants, i.e. H620Q, E621G, G622D, S623A, S624A, and G628R.
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ABCC7 p.Ser624Ala 20435887:87:182
status: NEW90 For the expression of CFTR mutants H620Q, E621G, S623A, and S624A, the profiles of core-glycosylated and mature-glycosylated forms were similar to that of the wt protein.
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ABCC7 p.Ser624Ala 20435887:90:60
status: NEW108 First, Cl- currents recorded for wt CFTR, E621G, and S624A CFTR mutants were not significantly different (mean current densities for each construct are reported in supplemental Table 2).
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ABCC7 p.Ser624Ala 20435887:108:53
status: NEW173 Indeed, our recordings of Cl currents supported by CFTR mutants E621G and S624A were not different from the non-mutated channels stimulated either by Fsk or by MPB agents.
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ABCC7 p.Ser624Ala 20435887:173:74
status: NEW180 In addition, MPB-91 was also able to activate H620Q, E621G, S623A, and S624A mutants.
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ABCC7 p.Ser624Ala 20435887:180:71
status: NEW