ABCC7 p.Cys590Ser
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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.Cys590Ser 15272010:57:76
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.Cys590Ser 15272010:58:234
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and C592 were both mutated to serine, regardless of whether the other 16 cysteines remained (data not shown) or had all been replaced by serines (Figure 2B, 16CS þ C590S/ C592S).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.Cys590Ser 17036051:25:225
status: NEW