ABCMdb

ABCB4 p.Arg1046*

None has been submitted yet.

Publications

PMID: 19018976 [PubMed] Nakken KE et al: "ABCB4 sequence variations in young adults with cholesterol gallstone disease."

No. Sentence Comment

8 Another patient was heterozygous for a nonsense mutation (c.3136C 4 T/p.R1046X). Login to comment
58 This leads to a premature stop codon, p.R1046X. Login to comment
86 Four of the eight identified ABCB4 gene variants have not been reported before (p.M113L, p.Q1106H, p.Y467F fsX25 and p.R1046X). Login to comment
88 Table 1. Summary of patient characteristics having ABCB4 gene variations with possible effects on the ABCB4 protein and the occurrence of these variations in healthy controls Patient (ID) (n = 104) Gender/ethnicity Age Indication for surgery Gallstone Location Nucleotide change Peptide change Status Controls (n = 95) 1-16 Female Exon 16 c.1954A 4 G p.R652G 9 17-22 Female/Norwegian 21 Choledocholithiasis Multiple, 5 mm Exon 6 c.523A 4 G p.T175A heterozygous 3 Female/Iraq 25 Cholecystolithiasis Multiple, 5-10 mm Female/Norwegian 28 Cholecystolithiasis Two, 15 mm Female/African 31 Cholecystitis Multiple, 5 mm1solitary, 20 mm Female/Norwegian 32 Cholecystolithiasis Multiple, 5 mm Female/Norwegian 34 Cholecystolithiasis Multiple, 5-10 mm 23 Female/Norwegian 32 Cholecystolithiasis Two, 20 mm Exon 14 c.1584G 4 C p.E528D heterozygous 0 24-25 Female/Norwegian 23 Cholecystolithiasis Multiple, 5 mm Exon 15 c.1769G 4 A p.R590Q heterozygous 1 Female/Norwegian 37 Cholecystolithiasis Multiple, o 5 mm 26 Female/Norwegian 40 Cholecystitis Solitary, 30 mm Exon 25 c.3136C 4 T p.R1046X heterozygous - 27 Female/Pakistani 30 Cholecystolithiasis Three, 10 mm Exon 13 c.1399_1400 ins10 p.Y467F fsX25 heterozygous - 28 Ã Female/Pakistani 32 Cholecystolithiasis Multiple, o 5 mm Exon 5 c.337A 4 G p.M113L heterozygous 0 Exon 26 c.3318G 4 C p.Q1106H 0 The variation p.R652G, considered to be without functional significance for the ABCB4 product, is shown without patient characteristics (16 patients). Login to comment
99 The nonsense mutation c.3136C 4 T resulting in a premature stop codon p.R1046X and the insertion c.1399_1400 ins10 resulting in frameshift, followed by a premature stop codon (p.Y467F fsX25), are the two mutations that most probably affected the function of the ABCB4 protein in our patient material. Login to comment
136 The mutations found were c.3136C 4 T/p.R1046X and c.1399_1400ins10/p.Y467F fsX25. Login to comment