PMID: 16690975

McKone EF, Shao J, Frangolias DD, Keener CL, Shephard CA, Farin FM, Tonelli MR, Pare PD, Sandford AJ, Aitken ML, Kavanagh TJ
Variants in the glutamate-cysteine-ligase gene are associated with cystic fibrosis lung disease.
Am J Respir Crit Care Med. 2006 Aug 15;174(4):415-9. Epub 2006 May 11., 2006-08-15 [PubMed]
Sentences
No. Mutations Sentence Comment
62 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 16690975:62:238
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 16690975:62:114
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 16690975:62:107
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 16690975:62:223
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 16690975:62:100
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 16690975:62:122
status: NEW
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ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 16690975:62:231
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 16690975:62:245
status: NEW
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 * Severe cystic fibrosis transmembrane conductance regulator (CFTR) mutations (Class I-III) ϭ G542X, R553X, W1282X, R1162X, 621-1G→T, 1717-1G→A, 1078⌬T, 3659⌬C, ⌬F508, ⌬I507, N1303K, S549N, G551D, R560T. Login to comment 63 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16690975:63:45
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 16690975:63:123
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 16690975:63:52
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 16690975:63:65
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 16690975:63:59
status: NEW
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 Mild CFTR mutations (Class IV and V) ϭ R117H, R334W, G85E, R347P, 3849ϩ10KbC→T, 2789ϩ5G→A, A455E. Login to comment