PMID: 20932301

Green DM, McDougal KE, Blackman SM, Sosnay PR, Henderson LB, Naughton KM, Collaco JM, Cutting GR
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
Respir Res. 2010 Oct 8;11:140., [PubMed]
Sentences
No. Mutations Sentence Comment
74 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 20932301:74:469
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 20932301:74:736
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 20932301:74:984
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 20932301:74:1209
status: NEW
view ABCC7 p.Pro574His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 20932301:74:1189
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 20932301:74:533
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 20932301:74:475
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 20932301:74:519
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly551Ser
X
ABCC7 p.Gly551Ser 20932301:74:743
status: NEW
view ABCC7 p.Gly551Ser details
ABCC7 p.Gly1244Glu
X
ABCC7 p.Gly1244Glu 20932301:74:720
status: NEW
view ABCC7 p.Gly1244Glu details
ABCC7 p.Gly1349Asp
X
ABCC7 p.Gly1349Asp 20932301:74:728
status: NEW
view ABCC7 p.Gly1349Asp details
ABCC7 p.Ser1255Pro
X
ABCC7 p.Ser1255Pro 20932301:74:792
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 20932301:74:991
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 20932301:74:1005
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 20932301:74:1012
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Gly314Glu
X
ABCC7 p.Gly314Glu 20932301:74:898
status: NEW
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ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 20932301:74:998
status: NEW
view ABCC7 p.Arg347His details
ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 20932301:74:1019
status: NEW
view ABCC7 p.Arg347His details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 20932301:74:646
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 20932301:74:462
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 20932301:74:511
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Ser1251Asn
X
ABCC7 p.Ser1251Asn 20932301:74:1033
status: NEW
view ABCC7 p.Ser1251Asn details
ABCC7 p.Glu585*
X
ABCC7 p.Glu585* 20932301:74:442
status: NEW
view ABCC7 p.Glu585* details
ABCC7 p.Gln493*
X
ABCC7 p.Gln493* 20932301:74:482
status: NEW
view ABCC7 p.Gln493* details
ABCC7 p.Val520Phe
X
ABCC7 p.Val520Phe 20932301:74:526
status: NEW
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ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 20932301:74:668
status: NEW
view ABCC7 p.Ser549Arg details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 20932301:74:640
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 20932301:74:750
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 20932301:74:919
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 20932301:74:661
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 20932301:74:785
status: NEW
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ABCC7 p.Asp979Ala
X
ABCC7 p.Asp979Ala 20932301:74:600
status: NEW
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ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 20932301:74:806
status: NEW
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ABCC7 p.Pro67Leu
X
ABCC7 p.Pro67Leu 20932301:74:964
status: NEW
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ABCC7 p.Ser549Ile
X
ABCC7 p.Ser549Ile 20932301:74:654
status: NEW
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ABCC7 p.Arg1066Cys
X
ABCC7 p.Arg1066Cys 20932301:74:503
status: NEW
view ABCC7 p.Arg1066Cys details
ABCC7 p.Tyr1092*
X
ABCC7 p.Tyr1092* 20932301:74:541
status: NEW
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ABCC7 p.Gln552*
X
ABCC7 p.Gln552* 20932301:74:489
status: NEW
view ABCC7 p.Gln552* details
ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 20932301:74:858
status: NEW
view ABCC7 p.Asp1152His details
ABCC7 p.Gly622Asp
X
ABCC7 p.Gly622Asp 20932301:74:912
status: NEW
view ABCC7 p.Gly622Asp details
ABCC7 p.Gly576Ala
X
ABCC7 p.Gly576Ala 20932301:74:905
status: NEW
view ABCC7 p.Gly576Ala details
ABCC7 p.Ile1234Val
X
ABCC7 p.Ile1234Val 20932301:74:940
status: NEW
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ABCC7 p.Arg117Cys
X
ABCC7 p.Arg117Cys 20932301:74:970
status: NEW
view ABCC7 p.Arg117Cys details
ABCC7 p.Ile1139Val
X
ABCC7 p.Ile1139Val 20932301:74:932
status: NEW
view ABCC7 p.Ile1139Val details
ABCC7 p.Glu822Lys
X
ABCC7 p.Glu822Lys 20932301:74:891
status: NEW
view ABCC7 p.Glu822Lys details
ABCC7 p.Arg792Gly
X
ABCC7 p.Arg792Gly 20932301:74:1026
status: NEW
view ABCC7 p.Arg792Gly details
ABCC7 p.Ala800Gly
X
ABCC7 p.Ala800Gly 20932301:74:851
status: NEW
view ABCC7 p.Ala800Gly details
ABCC7 p.Val232Asp
X
ABCC7 p.Val232Asp 20932301:74:1041
status: NEW
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ABCC7 p.Leu1077Pro
X
ABCC7 p.Leu1077Pro 20932301:74:777
status: NEW
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ABCC7 p.Gly480Cys
X
ABCC7 p.Gly480Cys 20932301:74:633
status: NEW
view ABCC7 p.Gly480Cys details
ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 20932301:74:449
status: NEW
view ABCC7 p.Glu60* details
ABCC7 p.His620Gln
X
ABCC7 p.His620Gln 20932301:74:925
status: NEW
view ABCC7 p.His620Gln details
ABCC7 p.Arg117Pro
X
ABCC7 p.Arg117Pro 20932301:74:977
status: NEW
view ABCC7 p.Arg117Pro details
ABCC7 p.Ala559Thr
X
ABCC7 p.Ala559Thr 20932301:74:593
status: NEW
view ABCC7 p.Ala559Thr details
ABCC7 p.Asp614Gly
X
ABCC7 p.Asp614Gly 20932301:74:874
status: NEW
view ABCC7 p.Asp614Gly details
ABCC7 p.Glu822*
X
ABCC7 p.Glu822* 20932301:74:455
status: NEW
view ABCC7 p.Glu822* details
ABCC7 p.Leu1335Pro
X
ABCC7 p.Leu1335Pro 20932301:74:948
status: NEW
view ABCC7 p.Leu1335Pro details
ABCC7 p.Glu1104*
X
ABCC7 p.Glu1104* 20932301:74:434
status: NEW
view ABCC7 p.Glu1104* details
ABCC7 p.His199Arg
X
ABCC7 p.His199Arg 20932301:74:756
status: NEW
view ABCC7 p.His199Arg details
ABCC7 p.Asp1154Gly
X
ABCC7 p.Asp1154Gly 20932301:74:866
status: NEW
view ABCC7 p.Asp1154Gly details
ABCC7 p.Met1137Val
X
ABCC7 p.Met1137Val 20932301:74:956
status: NEW
view ABCC7 p.Met1137Val details
ABCC7 p.Gln814*
X
ABCC7 p.Gln814* 20932301:74:496
status: NEW
view ABCC7 p.Gln814* details
For Pa, the hazard ratio Table 1 Classification of CFTR alleles Category Mutation Specific mutations Class I Defective Protein Synthesis (nonsense, frameshift, aberrant splicing) 1078delT, 1154 insTC, 1525-2A > G, 1717-1G > A, 1898+1G > A, 2184delA, 2184 insA, 3007delG, 3120+1G > A, 3659delC, 3876delA, 3905insT, 394delTT, 4010del4, 4016insT, 4326delTC, 4374+1G > T, 441delA, 556delA, 621+1G > T, 621-1G > T, 711+1G > T, 875+1G > C, E1104X, E585X, E60X, E822X, G542X, G551D/R553X, Q493X, Q552X, Q814X, R1066C, R1162X, R553X, V520F, W1282X, Y1092X Class II Abnormal Processing and Trafficking A559T, D979A, ΔF508, ΔI507, G480C, G85E, N1303K, S549I, S549N, S549R Class III Defective Channel Regulation/Gating G1244E, G1349D, G551D, G551S, G85E, H199R, I1072T, I48T, L1077P, R560T, S1255P, S549 (R75Q) Class IV Decreased Channel Conductance A800G, D1152H, D1154G, D614G, delM1140, E822K, G314E, G576A, G622D, G85E, H620Q, I1139V, I1234V, L1335P, M1137V, P67L, R117C, R117P, R117H, R334W, R347H, R347P, R347P/ R347H, R792G, S1251N, V232D Class V Reduced Synthesis and/or Trafficking 2789+5G > A, 3120G > A, 3272-26A > G, 3849+10kbC > T, 5T variant, 621+3A > G, 711+3A > G, A445E, A455E, IVS8 poly T, P574H was increased 3 fold for those with 'Minimal` function when compared to those with 'Residual` function. Login to comment