ABCC7 p.Gln207*
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PMID: 22892530
[PubMed]
Sobczynska-Tomaszewska A et al: "Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy."
No.
Sentence
Comment
69
Based on this assumption, the previously published data of the frequency of this mutation in the Polish population (57%,15), the data from the Polish Cystic Fibrosis Patients Registry3 (56-62%) and the results of the clinical follow-up Table 1 Characteristic of the cases omitted in the screening for CF programme owing to IRT values o99.4 percentile Newborn Patients` genotype after first stage CFTR analysisa Sweat test (pilocarpine ionthoforesis (mmol/l)) Clinical history Patients` genotype after extended CFTR analysis (performed on physician`s request; sequencing of entire coding region) 1 [2183AA4G ];[ ¼ ] 116; 139 Recurrent diarrhoea, pneumonia, liver dysfunction [2183AA4G];[E92K] 2 [F508del];[ ¼ ] 80; 127; 136 Chronic diarrhoea, failure to thrive, pneumonia [F508del];[4218insT] 3 [ ¼ ];[ ¼ ] 118;140 Pneumonia, liver dysfunction [Q207X];[ ¼ ] 4 [ ¼ ];[ ¼ ] 56 Diarrhoea, pneumonia [L997F];[1210-12T[5] þ 1210-13G4T]b Abbreviations: CF, cystic fibrosis; IRT, immunoreactive trypsin; NBS CF, newborn screening for CF; ¼ , no mutation identified.
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ABCC7 p.Gln207* 22892530:69:860
status: NEW
PMID: 24412276
[PubMed]
Loo TW et al: "The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds."
No.
Sentence
Comment
105
These results suggest that the Q207X mutations likely had deleterious effects on mutant V232D, as the mutants could no longer be rescued with VX-809.
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ABCC7 p.Gln207* 24412276:105:31
status: NEW179 If V510D is a universal suppressor, then we predict that it would also promote maturation of the Q207X mutants.
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ABCC7 p.Gln207* 24412276:179:97
status: NEW180 Accordingly, the V510D mutation was introduced into mutants Q207X (X = A, L, C, E, F, W, N, and S) that were defective in maturation (Fig. 2).
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ABCC7 p.Gln207* 24412276:180:60
status: NEW195 The L305R(TM5) P-gp mutant resembles CFTR mutants V232D, V232E, and V232K The characteristics of the V232D/Q207X (Fig. 1) and V232X (Fig. 3) mutants suggest that the mechanism of the V232D mutation involves disruption of a hydrophobic pocket between TM segments.
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ABCC7 p.Gln207* 24412276:195:107
status: NEW215 To test if the rescued L305R mutant was active, histidine-tagged versions of the mutant and wild-type P-gp were expressed in HEK Fig. 6. Rescue of Q207X mutants with the V510D suppressor mutation.
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ABCC7 p.Gln207* 24412276:215:147
status: NEW216 (A) Whole cell extracts of cells expressing CFTR Q207X mutants in the absence () or presence (+) of VX-809 or were subjected to immunoblot analysis.
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ABCC7 p.Gln207* 24412276:216:49
status: NEW220 An asterisk indicates significant (P < 0.05) difference when compared to the Q207X mutant (without the V510D mutation) that was expressed in the absence of corrector.
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ABCC7 p.Gln207* 24412276:220:77
status: NEW