ABCC7 p.Tyr161Cys

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PMID: 21909392 [PubMed] Roth EK et al: "The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients."
No. Sentence Comment
46 CFabsent CFresidual CFTR genotype Number of individuals CFTR genotype Number of individuals F508del/F508del 10 F508del/Y161C 1 F508del/W57X 1 F508del/V232D 1 F508del/G85E 3 F508del/R334W 2 F508del/120del23 1 F508del/T338I 1 F508del/182delT 1 F508del/I1234V 1 F508del/G542X 1 F508del/3272-26 A.G 1 F508del/A561E 1 F508del/3849+10 kb C.T 1 F508del/Y1092X 1 F508del/4005 +5727 A.G 1 F508del/N1303K 1 F508del/G576A 1 F508del/1525-1 G.A 2 N1303K/R334W 1 F508del/Q39X 1 F1052V/M1137R 1 F508del/Q552X 1 1898+3 A.G/ 1898+3 A.G 1 G85E/G85E 1 R334W/3199del6 1 Q552X/R1162X 1 R334W/X 1 A561E/A561E 2 dele2,3/X 1 R764X/1717-1 G.A 1 R1158X/2183AA.G 1 R1158X/R560T 1 doi:10.1371/journal.pone.0024445.t001 luminal and basolateral surfaces of the epithelium were perfused continuously with a solution of the following composition (mmol/ L): NaCl 145, KH2PO4 0.4, K2HPO4 1.6, D-glucose 5, MgCl2 1, Ca-gluconate 1.3, pH 7.4, at 37uC.
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ABCC7 p.Tyr161Cys 21909392:46:119
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149 (A-C) Original recordings of effects of cAMP-mediated (IBMX/forskolin) and cholinergic (CCH) activation, and effects of 1-EBIO (500 mM, basolateral) on transepithelial voltage (Vte) and resistance (Rte) in rectal tissues from a control subject (A), a CF patient with no detectable Cl2 secretion (CFabsent; R1158X/2183AA.G) (B), and a CF patient with residual Cl2 secretion (CFresidual; F508del/Y161C), as evidence by lumen-negative Vte responses (C).
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ABCC7 p.Tyr161Cys 21909392:149:394
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PMID: 15480987 [PubMed] Hirtz S et al: "CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis."
No. Sentence Comment
87 By extensive genotyping, 2 disease-causing CFTR mutations were identified in all 45 CF patients studied, including 2 novel mutations (120del23 and Y161C).
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ABCC7 p.Tyr161Cys 15480987:87:147
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125 According to our functional data, 3121-2AϾG, 1898ϩ1GϾT, and V520F constitute severe mutations, whereas 1898ϩ3AϾG, I148N, Y161C, V232D, T338I, I1234V, and S1159F confer residual CFTR Cl- channel function (Table 1).
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ABCC7 p.Tyr161Cys 15480987:125:151
status: NEW
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