ABCMdb

PMID: 16622704

Oude Elferink RP, Paulusma CC
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Pflugers Arch. 2007 Feb;453(5):601-10. Epub 2006 Apr 19., [PubMed]

Sentences

No. Mutations Sentence Comment

141 ABCB4 p.Thr175Ala ABCB4 p.Thr175Ala ABCB4 p.Glu528Asp ABCB4 p.Glu528Asp ABCB4 p.Ser320Phe ABCB4 p.Ser320Phe ABCB4 p.Ser320Phe ABCB4 p.Ser320Phe ABCB4 p.Ile541Phe ABCB4 p.Ile541Phe ABCB4 p.Ala546Asp ABCB4 p.Ala546Asp ABCB4 p.Ala934Thr ABCB4 p.Ala934Thr ABCB4 p.Phe165Ile ABCB4 p.Phe165Ile ABCB4 p.Met301Thr ABCB4 p.Met301Thr ABCB4 p.Asp564Gly ABCB4 p.Asp564Gly ABCB4 p.Ser346Ile ABCB4 p.Ser346Ile ABCB4 p.Arg788Glu ABCB4 p.Arg788Glu ABCB4 p.Arg957* ABCB4 p.Arg957* ABCB4 p.Val425Met ABCB4 p.Val425Met ABCB4 p.Trp658* ABCB4 p.Trp658* ABCB4 p.Trp138Arg ABCB4 p.Trp138Arg ABCB4 p.Phe711Ser ABCB4 p.Phe711Ser ABCB4 p.Glu395Gly ABCB4 p.Glu395Gly ABCB4 p.Leu556Arg ABCB4 p.Leu556Arg ABCB4 p.Gly983Ser ABCB4 p.Gly983Ser ABCB4 p.Gln636* ABCB4 p.Gln636* ABCB4 p.Thr424Ala ABCB4 p.Thr424Ala ABCB4 p.Leu591Gln ABCB4 p.Leu591Gln 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