ABCMdb

ABCB4 p.Arg47*

None has been submitted yet.

Publications

PMID: 22343912 [PubMed] Fang LJ et al: "Chinese children with chronic intrahepatic cholestasis and high gamma-glutamyl transpeptidase: clinical features and association with ABCB4 mutations."

No. Sentence Comment

6 Apart from c.139C>T (p.R47X), all were novel, including c.344þ2_þ3insT, c.1376A>G (p.D459G), c.1745G>A (p.R582Q), c.2077_2078delC (p.P693HfsX698), and c.3825_3826delA (p.M1276WfsX1308). Login to comment
76 Apart from c.139C>T (p.R47X) (19), they were novel; they included c.344þ2_þ3insT, c.1376A>G (p.D459G), c.1745G>A (p.R582Q), c.2077_2078delC (p.P693HfsX698), and c.3825_3826delA (p.M1276WfsX1308). Login to comment
79 Translation would generate a truncated protein (p.R47X) including only the first intracellular domain. Login to comment
92 MDR3 staining was completely absent with compound heterozygous mutations c.139C>T (p.R47X) and c.1745G>A (p.R582Q) (case 13, Fig. 1E). Login to comment
144 Normal MDR3 staining (A) and normal BSEP staining (B) in control liver specimen; normal MDR3 staining (C) and normal BSEP staining (D) in case 6 without ABCB4 mutation; absence of MDR3 staining (E) and normal BSEP staining (F) in case 13 with compound heterozygous ABCB4 mutations c.139C>T (p.R47X) and c.1745G>A (p.R582Q); faint MDR3 staining (G) and normal BSEP staining (H) in case 11 with compound heterozygous ABCB4 mutations c. Login to comment

PMID: 18482588 [PubMed] Ziol M et al: "ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults."

No. Sentence Comment

56 As described in Figure 1, 3 (T175A, R590Q, A934T) have been previously described in patients with LPAC or ICP.8,13 Conversely, 5 (R47X, V526F, A539T, R545G, I738L) have not been previously described.20 The frequency of each mutation is indicated in Figure 1. Login to comment
91 Clinical Characteristics at the Time of Liver Biopsy and ABCB4 Heterozygous Point Mutations Identified in 11 Patients With Unexplained Anicteric Cholestasis Case Sex Age Cholelithiasis symptoms (age at the onset) Recurrence of cholelithiasis after cholecystectomy Intrahepatic hyperechogenic foci, sludge, or microlithiasis ICPa or steroid sexual triggered cholestasisb ABCB heterozygous mutation Exon Location and nucleotide changes Amino acid changes 1 F 23 No __ No Yesa Nonsense 4c c. 139CϾT R47X Missense 6 c. 523AϾG T175A 2 F 16 No - No Yesb Nonsense 4c c. 139CϾT R47X Missense 6 c. 523AϾG T175A 3 F 50 No - No No Missense 18c c. 2212AϾC I738L 4 M 53 Yes (53 y) No Yes - Missense 14c c. Login to comment
92 1615GϾA A539T Missense 15 c. 1769GϾA R590Q 5 F 47 No - No No Missense 23 c. Login to comment
57 As described in Figure 1, 3 (T175A, R590Q, A934T) have been previously described in patients with LPAC or ICP.8,13 Conversely, 5 (R47X, V526F, A539T, R545G, I738L) have not been previously described.20 The frequency of each mutation is indicated in Figure 1. Login to comment