ABCMdb

PMID: 8617131

McGill JM, Williams DM, Hunt CM
Survey of cystic fibrosis transmembrane conductance regulator genotypes in primary sclerosing cholangitis.
Dig Dis Sci. 1996 Mar;41(3):540-2., [PubMed]

Sentences

No. Mutations Sentence Comment

33 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gln493* ABCC7 p.Val520Phe ABCC7 p.Gly85Glu ABCC7 p.Tyr122* ABCC7 p.Arg560Thr ABCC7 p.Tyr1092* In total, 32 mutations were evaluated, which represent 90% of the most common mutations (t4): AF508 G542X G551D W1282X 3905insT NI303K 3849+ 10kbC--~T R553X 621+ IG--*T 1717- IG--,A lt)78delT 2789+5G---~A 3849+4A--~G 711+ IG---oT R1162X 1898+IG----~A R117H 3659delC G85E 2184delA A1507 R347P Y1092X R560T A455E R334W Y122X S549R(T---~G) Q493X V520F $549N R347H Patient Selection. Login to comment 41 ABCC7 p.Gly551Asp PATIENT CHARACTERISTICSAND GENETIC MUTATIONS Characteristic Age (yr),median (25'h-75'l' percentile) 48.5(41.5-63.5) Gender (% male) 60 Race (% Caucasian) 100 Gen.otype N (frequency) N/N* 17 (89.5%) N/G551D 1 (5.3%) N/RII7H 1 (5.3%) *N denotes wild typeallele, no mutation detected. Login to comment 49 ABCC7 p.Gly551Asp The remaining two patients exhibited mutations G551D and RI17H. Login to comment