ABCMdb

PMID: 17719933

Pall H, Zielenski J, Jonas MM, DaSilva DA, Potvin KM, Yuan XW, Huang Q, Freedman SD
Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function.
J Pediatr. 2007 Sep;151(3):255-9. Epub 2007 Jul 24., [PubMed]

Sentences

No. Mutations Sentence Comment

65 ABCC7 p.Arg75Gln The R75Q variant was common in both groups of subjects and is currently not listed as a CF causing mutation, although its contribution to CF-like phenotypes cannot be excluded. Login to comment 70 ABCC7 p.Arg75Gln The data indicate the following frequencies: IVS8T5, 3% to 5%, depending on population; R75Q, 3% to 6%, depending on population; 1716G ¡ A, 1% to 2% (personal communication from Julian Zielenski, Hospital for Sick Children, Toronto, Canada). Login to comment 90 ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Ser1235Arg ABCC7 p.Glu725Lys ABCC7 p.Gln1352His Mutations/Variants Polymorphism 1540 locus T Tract Sweat chloride (mmol/L) ⌬Cl ؉ Iso (mV)* PSC 1 GG 7/7 20.2 -1.2 2 GG 7/7 19.7 -17.3 3 R75Q AA 7/7 14.8 -3.9 4 4521G/A(8T/9T) AA 7/7 19.4 -13.3 5 2694T/G AG 7/7 NP NP 6 GG 7/7 5.1 -12.5 7 NP 5.8 -17.8 8 AA 7/7 9.9 -12.8 9 E725K AG 7/7 56.3 -5.1 10 R75Q AA 7/7 30.3 -5.5 11 4006 - 200G/A, 1233A/T AA 7/9 32.1 -29 12 2694T/G AG 7/7 8.7 -2.4 13 4521G/A, 4700T8/9 AG 7/7 4.8 -3.8 14 1525 - 61A/G AG 7/9 45.3 -2.2 15 3030G/A GG 7/7 18.6 -0.45 16 AA 7/7 7.6 -4.5 17 R75Q AG 7/9 21.6 -1.8 18 1001 ϩ 11C/T AG 7/9 45 1.2 19 AA 7/7 11 -11.5 20 1716G ¡ A AG 7/7 18.9 -20.1 IBD 21 1001 ϩ 11C/T AG 7/9 8.9 -13 22 S1235R/2752 - 26A ¡ G 185 ϩ 324C/T AG 7/7 15 -15 23 AG 7/7 17.8 -20 24 IVS8T5 AA 5/7 4.8 -10.4 25 875 ϩ 40A/G, 125G/C GG 7/7 10.8 -30 26 AG 7/7 22.9 -10.5 27 IVS8T5 AG 5/7 15.1 NP 28 AG 7/7 20.1 -8 29 R75Q GG 7/7 10.1 -17 30 AA 7/7 14 NP 31 Q1352H 4521A(hom), 4700T8/8 AG 7/7 3.5 -35 32 AA 7/7 11.8 -8 33 125G/C AG 7/7 9.4 -33 34 R75Q/IVS8T5 1898 ϩ 152T/A AG 5/7 4 -14 Subjects with IBD were disease control subjects. Login to comment 91 ABCC7 p.Ser1235Arg ABCC7 p.Glu725Lys CFTR mutations shown in bold are E725K, S1235R, and 2752 - 26A ¡ G. Login to comment