ABCMdb

ABCC7 p.Arg242Glu

None has been submitted yet.

Publications

PMID: 10220334 [PubMed] Chen M et al: "Topogenesis of cystic fibrosis transmembrane conductance regulator (CFTR): regulation by the amino terminal transmembrane sequences."

No. Sentence Comment

47 Primers carrying various mutations are 5'-AATCTGGAGGTTGTTAAAGGCGTC-3' (E217R/Q220K), 5'-CATCATTTCCCCTAGCCC-3' (R242E), 5'-CT- GATCTTCGTAATTCATCATCAT-3' (K246N/R248E), and 5'-TCCCAGCTTCCTGATCT-3' (R251E). Login to comment
49 The resulting constructs were named CFTR-N4R(E217R/Q220K), CFTR-N4R(R242E), CFTR-N4R(K246N/R248E), CFTR-N4R(R251E), CFTR-N4R(-8), and CFTR-N4R(-5). Login to comment
53 The final DNA clones were named CF-TM3,4R, CF-TM3,4R(E217R/Q220K), CF-TM3,4R(-8), and CF-TM3,4R(-5), respectively. To engineer R242E and K246N/R248E mutations into CF-TM3,4R, an EcoRI-EcoNI fragment encoding TM3 and part of TM4 was released from CF-TM3,4R and used to replace the amino terminal-encoding sequence in CFTR-N4R(R242E) and CFTR-N4R(K246N/R248E). Login to comment
54 The resulting constructs were named CF-TM3,4R(R242E) and CF-TM3,4R(K246N/R248E), respectively. To replace TM1 and TM2 of CFTR with that of Pgp, CFTR-N4R(-8) was linearized with XbaI, treated with Klenow DNA polymerase supplemented with dNTP in the absence of dGTP to avoid filling at the G position, and then digested with HindIII. The XbaI-HindIII fragment from CFTR-N4R(-8) and an EcoRI-NciI fragment encoding TM1 and TM2 of Pgp from pGPGP-N3 (12) were ligated into a pGEM-4z vector digested with EcoRI and HindIII. The resulting construct was named P1,2CF3,4R(-8). Login to comment
72 The mutant molecules used were CF-TM3,4R(E217R/ Q220K), CF-TM3,4R(R242E), and CF-TM3,4R(K246N/ R248E). Login to comment

PMID: 17043152 [PubMed] Aubin CN et al: "Positive charges at the intracellular mouth of the pore regulate anion conduction in the CFTR chloride channel."

No. Sentence Comment

98 Mutations that did not alter I-V shape (R80E, R242E, R933E, and R1102E) also had no significant effect on unitary conductance (Fig. 4 D). Login to comment
149 Under these conditions, current carried not only by wild-type CFTR, but also by each of the channel mutants R303E, R352E (Fig. 10), R80E, R242E, R933E, R1102E, and R352Q (not depicted) showed reversal potentials that were not significantly different from the calculated Cl- equilibrium potential (+33.4 mV). Login to comment
206 Examples of similar data obtained from three to four patches for these channel variants and also for R80E, R242E, R352Q, R933E, and R1102E (not depicted). Login to comment