ABCMdb

PMID: 9623690

Mahadeva R, Westerbeek RC, Perry DJ, Lovegrove JU, Whitehouse DB, Carroll NR, Ross-Russell RI, Webb AK, Bilton D, Lomas DA
Alpha1-antitrypsin deficiency alleles and the Taq-I G-->A allele in cystic fibrosis lung disease.
Eur Respir J. 1998 Apr;11(4):873-9., [PubMed]

Sentences

No. Mutations Sentence Comment

51 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Val520Phe ABCC7 p.Pro67Leu ABCC7 p.Trp1310* The 39 "other" CF mutations in the normal α1-AT phenotype 508/other group were: six patients G551D, three R117H, three 621+1G→T, two R1162X, two G542X and one each had P67L, 1078delT, 2711delT, 1717-1G→A, V520F, 1898+1G→T, W1310X and N1303K in addition to the ∆F508 mutation. Login to comment 53 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys In the 10 non-508/non-508 normal α1-AT phenotype group, one patient had each of the following: G551D/G551D, W1282X/2711delT, N1303K/unknown, 977ins/unknown, S549?/unknown, ∆I507/unknown; in four patients both mutations were unknown at the time of the study. Login to comment 54 ABCC7 p.Arg560Thr In the deficient α1-AT phenotype group, the "other" mutations in the five patients in the 508/other group were R560T, 3659delC, 2711delT and two in whom the other mutations were unknown at the time of the study. Login to comment