ABCB11 p.Val481Gln
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PMID: 25342496
[PubMed]
Kubitz R et al: "Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis."
No.
Sentence
Comment
88
6 [62] M 2.8 hom c.77-19T>A p.Y26Ifs7X Absent Yes (rBsep) 4.8 IS 7 [63] - 2.4 hom c.908+1G>A abb splic Absent NA 0.8 Unknown 8 [63] - 3 com het c.1145_1165del c.2012-8T>G p.A382_388del abb splic Absent NA 3/8/8.6 Unknown 9 [63] - 1.8 com het c.1941delA c.2012-8T>G p.G648Vfs6X abb splic Absent NA 3.2/3.6 Unknown 10 [63] - 0.8 com het c.2783_2787dup5 c.1442T>A p.K930Efs79X p.V481Q Absent NA 1/1.4 Unknown 11 [61] M 0.8/3.5 hom c.2783_2787dup5 p.K930Efs79X Absent YES 1.7/5 Unknown 12 [61] M 5 hom c.1639-2A>C abb splic Absent YES 12 Unknown abb splic aberrant splicing predicted, com het compound heterozygous, CsA cyclosporin A, EBV Epstein-Barr virus, exp experimental, F female, hom homozygous, IS immunosuppression, IVS intervening sequence, M male, NA not assessed, Tac tacrolimus a Sequence position not precisely defined Milder forms of BSEP deficiency (especially BRIC-2 and ICP) often respond well to therapy with ursodeoxycholic acid (UDCA), whereas a substantial number of patients with a PFIC-2 phenotype do not benefit from UDCA at all.
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ABCB11 p.Val481Gln 25342496:88:384
status: NEW