ABCMdb

PMID: 12167682

Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
N Engl J Med. 2002 Aug 8;347(6):401-7., 2002-08-08 [PubMed]

Sentences

No. Mutations Sentence Comment

71 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Pro205Ser ABCC7 p.Ile148Thr ABCC7 p.Leu206Trp ABCC7 p.Gly85Glu ABCC7 p.Pro67Leu ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Arg117Cys ABCC7 p.Leu997Phe ABCC7 p.Ile1027Thr ABCC7 p.Arg1162Leu ABCC7 p.Arg1070Trp ABCC7 p.Leu967Ser ABCC7 p.Phe693Leu ABCC7 p.Asp110His ABCC7 p.Asp579Gly ABCC7 p.Val520Ile ABCC7 p.Gly103* ABCC7 p.Thr1053Ile ABCC7 p.Val920Met ABCC7 p.Ile556Val MUTATION IDENTIFIED BY SCREENING FOR COMMON MUTATIONS MUTATION IDENTIFIED BY DNA SEQUENCING NO. OF PATIENTS ∆F508 5T* 3 ∆F508 D1152H 2 ∆F508 2789+2insA 2 ∆F508 R117C 2 ∆F508 D110H 1 ∆F508 2789+5G→A 1 ∆F508 P205S 1 ∆F508 L967S 1 ∆F508 I1027T 1 ∆F508 L206W 1 ∆F508 T1053I and 5T 1 ∆F508 V920M and 5T 1 ∆F508 R1070W 1 ∆F508 D579G 1 ∆F508 P67L 1 ∆F508 2811G→T†‡ 1 G85E F191V† 1 R117H G103X and 5T 1 I148T I556V 1 G542X R1162L 1 W1282X D1152H 1 None L138ins and 3272-26 A→G 1 None G463D† and 5T 1 None F693L and 5T 1 ∆F508 None 6 G551D None 1 W1282X None 1 None 5T 4 None 2307insA 1 None L997F 1 None V520I 1 None None 30 in Subject II-2 in Family 1. Login to comment