ABCMdb

ABCB11 p.Gly1292Val

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Publications

PMID: 19845854 [PubMed] Liu LY et al: "ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase."

No. Sentence Comment

55 The Splice Site Prediction by Neural Network program showed that a new cryptic acceptor splice site appeared when 499G 4 A (A167T) in exon seven occurred, so did the mutation 3875G 4 T (G1292V) in exon 28; 2606A 4G (Q869P) introduced a new cryptic donor splice site in exon 21. Login to comment
73 Ageat onset/sexSymptoms Ageat follow-upOutcomePathologicalfeaturesNucleotidechangeDeducedeffectMutationorigin 23d/MPersistentjaundice, pruritus,gallstone 6yAliveHepatocellularcholestasis, portalfibrosis Homozygous499G4AHomozygousA167TBothparentswerecarriers 350d/FPersistentjaundice, hepaticfailure 9mDeathNAHeterozygous2104C4THeterozygousQ702XNA 52d/MJaundice,pruritus5yLostfollow-upHepatocellularcholestasis, giantcelltransformation, portalfibrosis Compoundheterozygous 562G4T/IVS2213A4G/ IVS4-74A4T Compoundheterozygous G188W/splicingdefect NA 113m/FPersistentjaundice, pruritus 1.5yAliveHepatocellularcholestasis, giantcelltransformation Compoundheterozygous 1496G4A/2606A4C Compoundheterozygous G499E/Q869P G499Ewaspaternal,Q869P wasmaternal 142m/MJaundice,failureto thrive 14mLostfollowupNACompoundheterozygous 1605C4TÃ/IVS25-6C4G Compoundheterozygous A535AÃ/splicingdefect A535Awasmaternal, IVS25-6C4Gwaspaternal 15Birth/MProgressivejaundice, pruritus 2.5yLostfollow-upCholestasis,giantcell transformation,portal fibrosis Compoundheterozygous 319T4C/3172C4T Compoundheterozygous C107R/Q1058X C107Rwasmaternal, Q1058Xwaspaternal 20Birth/MProgressivejaundice15mLostfollow-upCholestasis,giantcell transformation,early cirrhosis Compoundheterozygous 1243C4T/3875G4T Compoundheterozygous R415X/G1292V R415Xwaspaternal, G1292Vwasmaternal Ã1605C4T(A535A):anuncommonSNP,reducingthelevelsofBSEPexpression(19). Login to comment
79 G499E and G1292V occur in two highly conserved nucleotide-binding fold (NBF) domains (residues 414-610, 1072-1321) (21). Login to comment
135 1496G 4 A (G499E) and 3875G 4 T (G1292V) are in two highly conserved nucleotide-binding fold (NBF) domains (residues 414-610, 1072-1321) (21). Login to comment
138 3875G 4 T (G1292V) introduces a new cryptic donor splice site in exon 28, which may affect mRNA splicing. Login to comment

PMID: 20214736 [PubMed] Ananthanarayanan M et al: "PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here?"

No. Sentence Comment

50 Amino acid changes G499E and G1292V are in the highly conserved nucleotide binding fold and it is expected that this will somehow alter binding and hydrolysis of ATP that is required for function by ABC transporters. Login to comment

PMID: 22795478 [PubMed] Kubitz R et al: "The bile salt export pump (BSEP) in health and disease."

No. Sentence Comment

185 PFIC BRIC/NFC ICP Other liver diseases Genetic variants without disease association Missense mutations M1V C336S D549V L1055P E135K E137K T87R V43I S701P G19R W342G G556R C1083Y E137K L198P M123T S56L L712L L50S A382G G562D A1110E E186G E297G S194P Q121K A865D M62K R387H A570T S1114R L198P R415Q L198P R128H A865G C68Y A390P L581F G1116E E297G V444A G260D I206V S874P C107R G410D A588V G1116F G374S D482G E297K V284A I939M I112T L413W S593R G1116R A390P N591S V444A G295C R958Q W114R I420T I627T S1120N R432T T655I T510T G295R F959C Y157C D440E E636G R1128C V444A T655I G295S F959V A167T G455E R698C S1144R I498T D676Y R299K T965S A167V K461E S699P R1153C A570T P710P R303K F971L I182K T463I E709K R1153H T586I L827I L339V F971Y M183T Q466K G758R S1154P G648V G855R H423R L1006F M183V R470Q G766R N1173D T655I E1186K V444A N1009H G188W Y472C Y818F T1210P T923P V444D K1145N M217R V481E R832C N1211D A926P V444G I1183T R223C D482G R832H V1212F R948C A459V S226L R487H T859R R1231Q G1004D I468I G238V R487P A865V R1231W R1050C R487L T242I N490D Q869P L1242I G1116R Q546K A257G I498T G877R D1243G R1128H Q558H V284L G499E S901R R1268Q L1197G E592Q E297G I512T R948C A1283V R1231Q V597M R303G N515T N979D G1292V R616G R303K R517H G982R G1298R T619A Q312H F540L G1004D M677L R313S I541L T1029K M677V G327E I541T G1032R R696Q W330R F548Y A1044P R698H Nonsense mutations (premature stop-codons) S25X Y472X Y772X R1090X E96X W493X Q791X V1147X W330X R520X R928X Q1215X Y354X I528X Y1041X R1235X R415X R575X R1057X E1302X R470X Q702X Q1058X Table 1 (Continued) PFIC BRIC/NFC ICP Other liver diseases Genetic variants without disease association Splice site mutations 76 + 3G > T 908 + 1delG 2178 + 1G > T 3057-2A > G Q159Q 77-1G > C 908 + 1G > T 2179-2A > G 3213 + 1delG Q361Q 99-1G > T 908 + 1G > A 2343 + 1G > T 3213 + 4A > G 150 + 3A > C 1435-13 -8del 2343 + 2T > C 3213 + 5G > A 390-1G > A 2012-8T > G 2611-2A > T 611 + 1G > A 2178 + 1G > A R1001R Deletions/insertions/frame shifts Q101Dfs8X L380Wfs18X G648Vfs5X Q1058Hfs38X F959Hfs1X T127Hfs6X A382 A388del K700Sfs12X I1061Vfs34X F959Gfs48X N199Ifs14X P456Pfs24X T919del L1165del L232Cfs9X H484Rfs5X K930Efs92X A1192Efs50X R303Sfs17X I528Sfs21X K930Efs79X T1256Tfs40X V368Rfs27X I610Qfs45X K969 K972del Synonymous variants without disease association R33R F90F L232L I416I G557G I876I A1028A K1145K D36D I134I Y269Y G418G V597V G937G K1070K R52R S136S Q312Q F427F A804A Y981Y T1086T D58D V195V G319G E395E A535A G817G G1004G A1110A The overview shows ࣈ 290 known variants of BSEP on the protein level, except splice site mutations, which are shown on cDNA level. Login to comment