ABCMdb

ABCB4 p.Ala934Thr

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Publications

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
93 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. Login to comment
94 1633AϾG R545G 11 M 29 No - No - Missense 14c 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

PMID: 17562004 [PubMed] Rosmorduc O et al: "Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene."

No. Sentence Comment

64 In addition, LPAC syndrome was observed in patients exhibiting the same or similar nonsense or missense mutations: in a mother and her elder son with an identical heterozygous nonsense mutation (1327insA); in independent patients from non-consanguineous families with the same homozygous missense mutation (Ser320Phe or Ala934Thr), while their heterozygous parents were asymptomatic; in patients with a similar nonsense mutation (1006-1016insT and 1006-1016delT) and in unrelated patients with the same missense mutations (Pro1161Ser). Login to comment

PMID: 16622704 [PubMed] Oude Elferink RP et al: "Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein)."

No. Sentence Comment

141 Canalicular lipid transport defects can cause gallstone formation Cholesterol supersaturation of bile, which occurs in a large proportion of humans, leads to the formation of cholesterol Walker B; L556R 571del Truncation PFIC3 LPAC ICP 27 splice Truncation 132 del Truncation TM 2; W138R TM 12; 981 del Truncation Linker; Q636X Truncation TM 11; R957X Truncation TM 6; S346I E395G Walker B; I541F TM 12; G983S Walker A; V425M Walker A; T424A Walker B; D564G TM 7; F711S 180 del truncation 336 delT truncation Exon 22-23 del truncation F165I T175A TM 5; M301T TM 5; S320F 336 insT truncation Walker A; 432 insA truncation E528D L591Q W658stop 757 insT R788E A934T P1161S TM 5; S320F TM 8; G762ER144X Walker B; A546D Walker B; G535AALL 96 del Truncation Walker B; L556R 571del Truncation PFIC3 LPAC ICP 27 splice Truncation 132 del Truncation TM 2; W138R TM 12; 981 del Truncation Linker; Q636X Truncation TM 11; R957X Truncation TM 6; S346I E395G Walker B; I541F TM 12; G983S Walker A; V425M Walker A; T424A Walker B; D564G TM 7; F711S 180 del truncation 336 delT truncation Exon 22-23 del truncation F165I T175A TM 5; M301T TM 5; S320F 336 insT truncation Walker A; 432 insA truncation E528D L591Q W658stop 757 insT R788E A934T P1161S TM 5; S320F TM 8; G762ER144X Walker B; A546D Walker B; G535AALL 96 del Truncation Fig. 3 Summary of the known mutations and their localization in the protein, as identified in patients with PFIC type 3, LPAC syndrome (intrahepatic gallstone formation), and intrahepatic cholestasis of pregnancy (ICP). Login to comment

PMID: 12891548 [PubMed] Rosmorduc O et al: "ABCB4 gene mutation-associated cholelithiasis in adults."

No. Sentence Comment

68 ABCB4 Gene Mutations in Patients With LPAC Syndrome Gene position Location and nucleotide change Peptide change Protein domain Status 6 495T3A Phe165Ile First intracellular loop Heterozygous 523T3C Thr175Ala between TM2 and TM3 Heterozygous 9 902T3C Met301Thr TM5 Heterozygous 959C3T Ser320Phe TM5 Homozygous 10 1007-1015insT 355Stop TM6 Heterozygous 1007-1015delT 341Stop TM6 Heterozygous 12 1327insA 447Stop Close to NBD11 Heterozygous 14 1584G3C Glu528Asp Close to NBD11 Heterozygous 15 1772T3A Leu591Gln Third intracellular loop Homozygous 17 1973G3A Try658Stop Third intracellular loop linker domain Heterozygous 18 2270-2273insT 793Stop Fourth intracellular loop between TM8 and TM9 Heterozygous 19 2363G3T Arg788Glu Fourth intracellular loop between TM8 and TM9 Heterozygous 23 2800G3T Ala934Thr Fifth intracellular loop between TM10 and TM11 Homozygous 26 3481C3T Pro1161Ser Close to NBD2 Heterozygous NOTE. The A of ATG of the initiator Met codon was denoted as "nucleotide ϩ 1." Login to comment
105 In addition, the LPAC syndrome was observed in patients with similar nonsense or missense mutations: in a mother and her elder son with an identical heterozygous nonsense mutation (1327insA); in patients from nonconsanguineous families with the same homozygous missense mutation (Ser320Phe or Ala934Thr) with asymptomatic heterozygous parents; in patients with a similar nonsense mutation (1006-1016insT and 1006-1016delT); and in unrelated patients with the same missense mutations (Pro1161Ser). Login to comment

PMID: 12713886 [PubMed] Ganne-Carrie N et al: "Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills."

No. Sentence Comment

12 C) predicting abnormal splicing of coding sequence and a heterozygous missense mutation in exon 23 (A934T) [1,4]. Login to comment
13 C) predicting abnormal splicing of coding sequence and a heterozygous missense mutation in exon 23 (A934T) [1,4]. Login to comment