ABCB4 p.Arg150Lys
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PMID: 16696816
[PubMed]
Floreani A et al: "Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations."
No.
Sentence
Comment
35
MDR3 mutations reported in the literature Mutation (codon) Exon Reference (R144X) 6 Gendrot et al.5 481G>A (R150K) 6 Mu¨llenbach et al.6 426-432del (132) 6 DeVree et al.13 959C>T (S320F) 9 Rosmordurc et al.,14 Pauli-Magnus et al.9 (G535D) 14 Lucena et al.7 1669 C>A (A546D) 14 Dixon et al.4 1712 del T (571) 14 Jacquemin et al.8, 15 2285 G>A (G762E) 18 Pauli-Magnus et al.9 2901 C>T (R957X) 23 DeVree et al.13 conditions included an initial denaturation step at 94 °C for 5 min, followed by 40 cycles of denaturation at 94 °C for 30 s, annealing at 55 °C for 30 s and extension at 72 °C for 30 s.
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ABCB4 p.Arg150Lys 16696816:35:108
status: NEW
PMID: 12746424
[PubMed]
Mullenbach R et al: "ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy."
No.
Sentence
Comment
148
• We have identified a new variant R150K that segregates with ICP in a UK pedigree and that is present in one additional case.
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ABCB4 p.Arg150Lys 12746424:148:42
status: NEW195 The only exceptions are 959C>T, which has been described in two patients with gallstones and ICP from two independent, non-consanguineous families,19 and the 481G>A (R150K) mutation reported in this study.
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ABCB4 p.Arg150Lys 12746424:195:166
status: NEW218 ABCB4 R150K may have a direct effect specific to the binding of phosphatidylcholine.
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ABCB4 p.Arg150Lys 12746424:218:6
status: NEW226 In summary, the current study has identified a new mutation (R150K) that cosegregates with ICP in a UK pedigree and an unrelated case.
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ABCB4 p.Arg150Lys 12746424:226:61
status: NEW227 However, no functional effect was shown when R150K was expressed in P-gp1.
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ABCB4 p.Arg150Lys 12746424:227:45
status: NEW