ABCB4 p.Ile738Leu
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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.
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ABCB4 p.Ile738Leu 18482588:56:157
status: NEW91 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.
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ABCB4 p.Ile738Leu 18482588:91:674
status: NEW92 1615GϾA A539T Missense 15 c. 1769GϾA R590Q 5 F 47 No - No No Missense 23 c.
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ABCB4 p.Ile738Leu 18482588:92:674
status: NEW93 2800GϾT A934T 6 F 18 Yes (18 y) No No Yesb Missense 15 c. 1769GϾA R590Q 7 M 28 No - No - Missense 18c c. 2212AϾC I738L 8 F 52 Yes (51 y) Yes No No Missense 15 c. 1769GϾA R590Q 9 F 57 No - No No Missense 15 c. 1769GϾA R590Q 10 F 48 Yes (32 y) Yes Yes No Missense 14c c.
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ABCB4 p.Ile738Leu 18482588:93:131
status: NEW94 1633AϾG R545G 11 M 29 No - No - Missense 14c c.
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ABCB4 p.Ile738Leu 18482588:94:131
status: NEW164 In addition, 1 patient (case 7) with a new ABCB4 DAMs (I738L), who had 2 consecutive liver biopsies within a 6-year period, had significant progressive portal fibrosis.
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ABCB4 p.Ile738Leu 18482588:164:55
status: NEW57 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.
X
ABCB4 p.Ile738Leu 18482588:57:157
status: NEW165 In addition, 1 patient (case 7) with a new ABCB4 DAMs (I738L), who had 2 consecutive liver biopsies within a 6-year period, had significant progressive portal fibrosis.
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ABCB4 p.Ile738Leu 18482588:165:55
status: NEW