ABCMdb

ABCC7 p.Asn782Lys

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Publications

PMID: 15784035 [PubMed] Gallegos-Orozco JF et al: "Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis."

No. Sentence Comment

100 Girodon et al. (19) also described a new missense mutation, N782K, of unknown effect. Login to comment
106 of Classic CF Nonclassic CFTR Mutations Reference PSC Patients Mutations CF Mutations IVS8-5T of Unknown Effect McGill (1996) (21) 19 1 (G551D) 1 (R117H) NA NA Girodon (2002)(19) 29 0 3 (L997F, S1235R, D1270N) 2 1 (N782K) Sheth (2003)* (18) 19 0 3 (2752-26A→G, 3849 + 10kbC→T, I1139V) 1 3 (S686Y, I1366F, R75Q) Gallegos-Orozco (2004) 59 1 ( F508) 0 2 NA Total, no. Login to comment

PMID: 12127423 [PubMed] Girodon E et al: "Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis."

No. Sentence Comment

3 Results: Four patients (13.8%) were heterozygous for a CFTR mutation, including a new putative severe CF-causing mutation (N782K), and three mild defects (L997F, D1270N, and S1235R). Login to comment
72 Four patients (13.8%) were heterozygous for one of the following CFTR mutations: N782K, L997F, S1235R and D1270N. Login to comment
74 N782K, a new missense mutation (C-to-A transversion at nucleotide 2478), is located in exon 13, generates an ApoI restriction site, and putatively E. Girodon et al. / Journal of Hepatology 37 (2002) 192-197 193 E.Girodonetal./JournalofHepatology37(2002)192-197194 Table 1 Clinical status and CFTR genotype in PSC patientsa Patient Gender Age (years) at onset IBD Episode(s) of acute cholangitis Cirrhosis and/or portal hypertension Cholangiocarcinoma Liver transplantation CFTR mutations TGmTn genotype Other sequence variations 1 F 37 UC Yes Yes Yes (67) No N782K/- 12-7/11-7 M470V 2 M 8 No No Yes No Yes (18) D1270N/- 11-9/11-7 M470V 3 M 27 No Yes No No No L997F/- 11-7/11-7 V470V 4 M 58 Crohn Yes No No Yes (65) S1235R/- 11-7/12-7 M470V 5 F 17 Unclassified No No No No 10-7/11-5 M470M 6 F 43 Crohn Yes Yes No Yes (46) 10-7/11-5 M470M 7 F 58 UC Yes Yes Yes (58) No 10-7/11-7 M470V,R75Q,406-13T/C 8 M 32 Crohn Yes Yes No Yes (38) 11-7/11-7 V470V, R75Q 9 F 41 UC No No No Yes (48) 10-7/11-7 M470V, 1716G/A 10 M 23 No No No No No 12-7/10-7 M470M, 1715-12T/C 11 F 55 Crohn No No No No 11-9/12-7 M470M 12 M 39 Unclassified Yes No No No 10-7/11-7 M470M 13 M 45 No No No No No 9-9/11-7 M470V 14 M 23 UC No No No Yes (23) 10-9/11-7 M470M 15 M 20 No Yes Yes No Yes (29) 10-9/10-7 M470M 16 M 17 Crohn No Yes No Yes (47) 11-9/11-7 M470V 17 M 43 Unclassified Yes No No No 11-9/11-7 M470V 18 M 47 No No No No No 11-9/10-7 M470M 19 M 42 Crohn Yes No No No 11-7/11-7 V470V 20 M 31 Crohn Yes No No Yes (34) 10-7/11-7 M470V 21 M 16 Crohn No No No No 10-7/12-7 M470V 22 M 56 No Yes Yes No No 11-7/11-7 V470V 23 F 47 No Yes No Yes (54) No 11-7/12-7 M470V 24 F 19 Crohn No No Yes (29) No 10-7/12-7 M470M 25 M 35 UC Yes No No No 11-7/12-7 M470V 26 M 31 UC No Yes Yes (45) Yes (45) 11-7/12-7 V470V 27 F 52 Crohn Yes Yes No Yes (56) 10-7/11-7 M470V 28 F 55 Crohn No No No No 10-9/11-7 M470V 29 F 43 NA No No Yes (43) No 11-7/11-7 V470V a IBD, inflammatory bowel disease; UC, ulcerative colitis; NA, non-available; and age (years) at diagnosis of cholangicarcinoma or at liver transplantation is indicated within brackets. Login to comment
92 One of these mutations, N782K, is a new missense mutation, that we never observed in more than 1000 non-CF chromosomes. Login to comment
94 We would therefore postulate that N782K is a severe CF-causing defect. Login to comment