ABCMdb

PMID: 21490445

Evason K, Bove KE, Finegold MJ, Knisely AS, Rhee S, Rosenthal P, Miethke AG, Karpen SJ, Ferrell LD, Kim GE
Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies.
Am J Surg Pathol. 2011 May;35(5):687-96., [PubMed]

Sentences

No. Mutations Sentence Comment

143 ABCB11 p.Glu297Gly ABCB11 p.Gly982Arg ABCB11 p.Gly982Arg ABCB11 p.Arg575* ABCB11 p.Arg575* ABCB11 p.Arg1231Gln ABCB11 p.Arg1090* ABCB11 p.Ala570Thr ABCB11 p.Cys107Arg ABCB11 p.Arg928* ABCB11 p.Leu1055Pro ABCB11 p.Gly1116Glu ABCB11 p.Gly766Arg ABCB11 p.Gly766Arg ABCB11 p.Gly766Arg ABCB11 p.Val1212Phe Immunohistochemical Findings and Genetic Abnormalities Patient BSEP Mutation Type of Mutation(s) 1 Absent c.890A>G (p.E297G)* Missense5,7,10,13,16,19,20 2 Absent c.1723C>T (p.R575X) Nonsense7,19,20 c.2178+1G>T Noncoding region20 3 Present c.1708G>A (p.A570T) Missense20 c.3634G>T (p.V1212F) Missense, predicted deleterious 4 Absent c.3164T>C (p.L1055P)* Missense, predicted deleterious 5 Absent c.3692G>A (p.R1231Q) Missense20 c.2296G>A (p.G766R) Missense20 6 Absent c.2782C>T (p.R928X) Nonsense13 c.3268C>T (p.R1090X) Nonsense5,7,13 7 Present c.3347G>A (p.G1116E) Missense, predicted deleterious IVS 23-8 G-A Noncoding region 8 Absent IVS 16-8 T>Gw Noncoding region10 9 Absent c.2944G>A (p.G982R) Missense5,7,19,20 c.2296G>A (p.G766R) Missense20 10 Absent c.2944G>A (p.G982R) Missense5,7,19,20 c.2296G>A (p.G766R) Missense20 11 Absent c.319T>C (p.C107R) Missense, predicted deleterious c.611+4A>G Noncoding region 12 Absent c.1723C>T (p.R575X) Nonsense7,19,20 c.2178+1G>T Noncoding region20 *Homozygous. Login to comment 162 ABCB11 p.Val1212Phe Both had missense mutations (p.G116E and p.V1212F) predicted to affect the highly conserved nucleotide-binding folds of BSEP. Login to comment