ABCMdb

PMID: 22331132

Wendum D, Barbu V, Rosmorduc O, Arrive L, Flejou JF, Poupon R
Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.
Virchows Arch. 2012 Mar;460(3):291-8. Epub 2012 Feb 14., [PubMed]

Sentences

No. Mutations Sentence Comment

106 ABCB4 p.Ala946Thr ABCB4 p.Thr34Met ABCB4 p.Thr175Ala ABCB4 p.Arg444Glu ABCB4 p.Thr775Met ABCB4 p.Glu528Asp ABCB4 p.Leu518Tyr ABCB4 p.Arg47Gln Location and nucleotide change Effect on protein Status of variant Mutation category 1 c.1328dup p.Arg444Glu fsX4, truncating Heterozygous Insertion 2 c.1584 G > C p.Glu528Asp Heterozygous Missense 3 c.101 C > T p.Thr34Met Heterozygous Missense 4 c.1553delT p.Leu518Tyr fsX16, truncating Heterozygous Deletion 5 c.139 C > G p.Arg 47 Gly Heterozygous Missense 6 c.1217 G > A p.Arg 406 Gln Heterozygous Missense c.140 G > A p.Arg47Gln Heterozygous, compound Missense 7 c.857 C > T p.Ala 286 Val Heterozygous Missense 8 c.2324 C > T p.Thr775Met Heterozygous Missense c.2836 G > A p.Ala946Thr Heterozygous Missense 9 c.523A > G p.Thr175Ala Heterozygous Missense 10 c.1005 + 5 G > A p.? Login to comment 107 ABCB4 p.Ala946Thr ABCB4 p.Thr34Met ABCB4 p.Thr175Ala ABCB4 p.Thr175Ala ABCB4 p.Arg444Glu ABCB4 p.Thr775Met ABCB4 p.Glu528Asp ABCB4 p.Leu518Tyr ABCB4 p.Arg47Gln ABCB4 p.Ser320Phe ABCB4 p.Ser320Phe Location and nucleotide change Effect on protein Status of variant Mutation category 1 c.1328dup p.Arg444Glu fsX4, truncating Heterozygous Insertion 2 c.1584 G > C p.Glu528Asp Heterozygous Missense 3 c.101 C > T p.Thr34Met Heterozygous Missense 4 c.1553delT p.Leu518Tyr fsX16, truncating Heterozygous Deletion 5 c.139 C > G p.Arg 47 Gly Heterozygous Missense 6 c.1217 G > A p.Arg 406 Gln Heterozygous Missense c.140 G > A p.Arg47Gln Heterozygous, compound Missense 7 c.857 C > T p.Ala 286 Val Heterozygous Missense 8 c.2324 C > T p.Thr775Met Heterozygous Missense c.2836 G > A p.Ala946Thr Heterozygous Missense 9 c.523A > G p.Thr175Ala Heterozygous Missense 10 c.1005 + 5 G > A p.? Login to comment 108 ABCB4 p.Thr175Ala ABCB4 p.Ser320Phe ABCB4 p.Ser320Phe Heterozygous Splicing 11 c.523A > G p.Thr175Ala Heterozygous Missense 12 c.959 C > T Ser 320 Phe Heterozygous Missense 13 c.959 C > T Ser 320 Phe Heterozygous Missense Fig. 1 Liver lesions in adult patients with MDR3 deficiency (MDR3/ABCB4 mutation). Login to comment