ABCC7 p.Cys592Ser
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PMID: 15272010
[PubMed]
Chen EY et al: "The DeltaF508 mutation disrupts packing of the transmembrane segments of the cystic fibrosis transmembrane conductance regulator."
No.
Sentence
Comment
57
The construction of Cys-less CFTR (C76S/C126S/C225S/C276S/C343S/C491S/C524S/C590S/C592S/C657S/C832S/C866S/C1344S/C1355S/C1395S/C1400S/C1410S/C1458S) was performed using the following cDNA fragments.
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ABCC7 p.Cys592Ser 15272010:57:82
status: NEW58 Point mutations C76/126S were generated in sequence in the PstI (bp 1) 3 XbaI (bp 573) fragment; point mutations C225S/C276S/C343S were generated in sequence in the XbaI (bp 573) 3 KpnI (bp 1370) fragment; point mutations C491S/C524S/C590S/C592S/C657S were generated in sequence in the KpnI (bp 1370) 3 ApaI (bp 2333) fragment; point mutations C832S/C866S were generated in sequence in the ApaI (bp 2333) 3 EcoRI (bp 3643) fragment; point mutations C1344S/C1355S/ C1395S/C1400S/C1410S/C1458S were generated in sequence in the EcoRI (bp 3643) 3 XhoI (bp 4560) fragment, the five insert fragments were then ligated and inserted into the PstI and XhoI sites of plasmid vector pMT21.
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ABCC7 p.Cys592Ser 15272010:58:240
status: NEW
PMID: 17036051
[PubMed]
Mense M et al: "In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer."
No.
Sentence
Comment
25
Functional expression was markedly diminished when C590 and C592 were both mutated to serine, regardless of whether the other 16 cysteines remained (data not shown) or had all been replaced by serines (Figure 2B, 16CS þ C590S/ C592S).
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ABCC7 p.Cys592Ser 17036051:25:232
status: NEW29 B Resting Stimulated 16CS+C590V/C592V 16CS+C590L/C592L 16CS+C590F/C592F 16CS+C590T/C592T 16CS+C590S/C592S 16CS+C590/C592 16CS+C590A/C592A A 200 s 5 µA WT CFTR Cys-free CFTR 16CS+C590L/C592L 0 25 50 75 100 125 150 175 WT CFTR Whole-oocyte conductance (µS) 16CS+C590V/C592V 16CS+C590/C592 C (2.5 ng cRNA) (20 ng cRNA) 250 160 105 75 kD cRNA (ng) 0.25 20 2.5 20 WT CFTR 16CS+ C590V/C592V 1 2 3 4 Mature Core D Uninjected oocyte 40 µM forskolin 40 µM forskolin 40 µM forskolin Washout Washout Washout Figure 2 Expression and function of cysteine-deficient CFTR channels in Xenopus oocytes.
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ABCC7 p.Cys592Ser 17036051:29:100
status: NEW