ABCMdb

ABCC7 p.Cys1344Ser

None has been submitted yet.

Publications

PMID: 16442101 [PubMed] Frelet A et al: "Insight in eukaryotic ABC transporter function by mutation analysis."

No. Sentence Comment

307 [138] A455E, P574H cAMP-stimulated apical membrane Cl-currents but current magnitudes were reduced compared to wild-type Electrophysiology of epithelial cells [139] C491S, C1344S, C1355S C491S channels opened almost exclusively to a 3-pS subconductance. Login to comment
309 C1344S and C1355S (NBD2) reduced the frequency of the subconductance openings . Login to comment

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. Login to comment
58 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. Login to comment

PMID: 17035430 [PubMed] Ziedalski TM et al: "Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection."

No. Sentence Comment

12 Three novel CFTR mutations were identified: A394V, F650L, and C1344S. Login to comment
86 We also identified three novel CFTR mutations, each in a separate patient with a normal sweat chloride concentration: A394V, C1344S, and F650L. Login to comment
113 In contrast to Table 3-Subjects With Normal Sweat Chloride Concentrations (< 40 mEq/dL)* Patient No. Age, yr Sex Bronch NTM† Other Infection‡ CFTR Mutations M470V Alleles IVS8 PolyT Sweat Chloride, mEq/dL 19 40 F Y Mab 1 7T/7T 19 20 41 F Y MAC 1 7T/7T 20 21 74 F Y MAC, Mgo Asp, Noc ⌬F508 1 7T/9T 22 22 28 M Y MAC L183I 1 7T/7T 23 23 49 F Y MAC 1 7T/7T 25 24 58 M Y MAC, Mfo 1 5T/7T 25 25 76 F Y MAC SA A394V 2 5T/9T 26 26 79 F Y MAC 1 7T/7T 27 27 58 F Y MAC R75Q 1 7T/7T 28 28 78 F Y MAC PA 1 7T/9T 31 29 64 F Y MAC 1 5T/9T 31 30 57 F Y MAC, Mxe R75Q 2 7T/7T 34 31 81 F Y MAC, Mmu R668C 1 7T/7T 34 32 82 F Y N PA F650L 1 5T/9T 33 33 69 F Y MAC, Mch, Mab PA ⌬F508 0 7T/9T 35 34 81 F Y MAC C1344S 2 7T/7T 38 35 72 F Y MAC R75Q 2 7T/7T 38 36 55 M Y N ⌬F508 1 7T/7T 21 37 61 F Y N 0 7T/9T 20 38 42 F Y N 1 9T/9T 21 39 50 M Y N PA, SA, Asp 1 5T/7T 22 40 71 M Y N 2 7T/7T 23 41 83 F Y N 2 7T/7T 23 42 46 M Y N 2 7T/7T 25 43 49 F Y N R75Q 2 7T/7T 33 44 48 F Y N PA R75Q 2 9T/9T 35 45 76 F Y N R1162L 1 7T/7T 35 46 67 M Y N A209S 0 9T/9T 36 47 46 F Y N 1 7T/7T 36 48 63 F N MAC 1 9T/9T § 49 60 F N MAC 1 7T/7T 31 50 40 F Y Mab 1 7T/7T 19 *See Tables 1 and 2 for expansion of abbreviations. Login to comment
124 The most phenotypically severe CFTR mutation, ⌬F508, was present in 12% of subjects in this study, compared to the general frequency of 3% in the white population in the United States.39,40 The R75Q mutation frequency was 14% in this study, compared to the general frequency of 1% in Northern Europeans.41 The intron 8 5T polymorphism was present in 17% of subjects in this study, compared to 5 to 10% in the general population.42,43 CFTR mutations identified in this study, including ⌬F508, R75Q, R117H, S1235R, D1152, L183I, and IVS8 5T, have been associated with mild symptoms of CF41,44-46 or with atypical manifestations of CF, such as isolated bronchiectasis14-17,19,20,22,23,25-27 and CBAVD.42,43,47 This study also reports three novel CFTR mutations, each in a separate patient with normal sweat chloride level: A394V, C1344S, and F650L. Login to comment

PMID: 19754156 [PubMed] Alexander C et al: "Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore."

No. Sentence Comment

42 The Cys-less CFTR construct (C76S, C126S, C225S, C276S, C343S, C491S, C524S, C590L, C592L, C657S, C832S, C866S, C1344S, C1355S, C1395S, C1400S, C1410S, C1458S) was a gift from Drs. Martin Mense and David Gadsby and was used in their pGEMHE vector previously described (13). Login to comment

PMID: 16766608 [PubMed] Serrano JR et al: "CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore."

No. Sentence Comment

23 MATERIALS AND METHODS Mutagenesis and in vitro transcription The Cys-less CFTR construct (C76S, C126S, C225S, C276S, C343S, C491S, C524S, C590L, C592L, C657S, C832S, C866S, C1344S, C1355S, C1395S, C1400S, C1410S, C1458S) was a gift from Drs. Martin Mense and Submitted December 28, 2005, and accepted for publication May 19, 2006. Login to comment