PMID: 11313771

Henry MT, Cave S, Rendall J, O'Connor CM, Morgan K, FitzGerald MX, Kalsheker N
An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis.
Eur J Hum Genet. 2001 Apr;9(4):273-8., [PubMed]
Sentences
No. Mutations Sentence Comment
65 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11313771:65:56
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11313771:65:79
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11313771:65:67
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 11313771:65:90
status: NEW
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Non DF 508 alleles in the two groups were: 1237A group: G551D (3); N1303K (2); R117H (1); R560T (1); Unknown (3). Login to comment
66 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11313771:66:13
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11313771:66:25
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11313771:66:68
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11313771:66:102
status: NEW
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ABCC7 p.Arg352Gln
X
ABCC7 p.Arg352Gln 11313771:66:126
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 11313771:66:36
status: NEW
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ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 11313771:66:58
status: NEW
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1237G group: G551D (10); R117H (3); R560T (3); D1507 (2); E60X (2); N1303K (1); 1717-1 (1); 621H (1); G542X (1); POL 400 (1); R352Q (1); RT0F (1); 621+G4T (1); Unknown (15). Login to comment
70 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11313771:70:118
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11313771:70:133
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11313771:70:125
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 11313771:70:143
status: NEW
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For subjects heterozygous for DF508, the second allele was matched as closely as possible and included the following: G551D, N1303K, R117H and R560T. Login to comment
81 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11313771:81:275
status: NEW
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ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11313771:81:346
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11313771:81:286
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11313771:81:357
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11313771:81:308
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 11313771:81:297
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 11313771:81:368
status: NEW
view ABCC7 p.Arg560Thr details
infective exacerbations over 2 years 4.7+0.7 2.8+0.6 0.03 over 4 yearsb 10.5+1.8 4.5+1.1 0.006 FEV1 % predicted 55.5+7.4 67.5+5.5 NS at reference visit 2 years post 53.1+8.5 68.4+5.5 (n=14) 0.09 (NS) reference visitb a Non DF 508 alleles in the two groups were: 1237A group: G551D (3); R117H (1); R560T (1); N1303K (2); Unknown (3); 1237G group: G551D (4); R117H (1); R560T (1); 621+G4T (1); Unknown (3). Login to comment