ABCMdb

ABCB11 p.Arg928*

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Publications

PMID: 20683201 [PubMed] Matte U et al: "Analysis of gene mutations in children with cholestasis of undefined etiology."

No. Sentence Comment

95 Gene sequence variants likely to cause disease phenotypes in subjects with CUEÃ Subject Age g-GTP Liver biopsy Gene Variant (allele frequency, if new) References CUE-1 1 mo 458 Not done JAG1 p.C251X New CUE-2 3.5 mo 632 Cholestasis, GCT, small bile ducts JAG1 p.V1086E New CUE-3 1.5 y 400 Pseudoacinar transformation, portal inflammation, moderate fibrosis ABCB4 p.Q945X/p.Y1171C (0%) New/new CUE-4 26 y 47 Cytoplasmic and canalicular cholestasis, portal fibrosis ATP8B1 p.N45T/p.I1050K (0%) (20)/new CUE-5 3.5 y 40 Electron microscopy consistent with Byler disease ATP8B1 c.1819þ1g>a/p.R930X Newy /(27) CUE-6 1.5 y 20 Canalicular cholestasis, portal inflammation ATP8B1 g.92918del565/g.92918del565 (13) CUE-7 1 y 44 GCT, portal inflammation, and fibrosis ABCB11 p.R928X/p.R1090X (13,28) CUE-8 2.5 y 62 Canalicular cholestasis, periportal inflammation, portal fibrosis ABCB11 p.I541T/p.I541T (12) CUE-9 5.5 y 54 Cholestasis, GCT, ductopenia, bridging fibrosis ABCB11 p.E297G/E297G (22) CUE-10 11 y 9 Minimal cholestasis; insufficient representation of portal tracts ABCB11 p.R948C/p.E1223D (0%) (12)/new CUE-11 6 mo 64 Cytoplasmic and canalicular cholestasis, GCT, fibrosis ABCB11 p.C68Y (0%)/p.R832H (0%) New, new CUE-12 2 y 42 Not done ABCB11 c.3770delA/c.3770delA Newy /newy CUE-13 19 y 29 Marked cholestasis, portal fibrosis. Login to comment

PMID: 21490445 [PubMed] Evason K et al: "Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies."

No. Sentence Comment

143 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

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

PMID: 24969679 [PubMed] Hu G et al: "Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing."

No. Sentence Comment

7 A total of 14 types of mutations/polymorphisms were identified in 20 patients from mainland China, including six missense mutations (p.Y337H, p.Y472C, p.R696W, p.Q931P, p.D1131V and p.H1198R), one nonsense mutation (p.R928X) and seven SNPs (p.D36D/rs3815675, p.F90F/rs4148777, p.Y269Y/rs2287616, p.I416I/rs183390670, p.V444A/rs2287622, p.A865V/rs118109635 and p.A1028A/rs497692). Login to comment
112 Results MutationsandSNPsdetectedinpatients.Amongthe20 patients with cholestasis, 14 types of variants were detected, including seven mutations in the coding region (p.Y337H, p.Y472C, p.R696W, p.R928X, p.Q931P, p.D1131V and p.H1198R) and seven SNPs (p.D36D/rs3815675, p.F90F/rs4148777, p.Y269Y/rs2287616, p.I416I/rs183390670, p.V444A/rs2287622, p.A865V/rs118109635 and p.A1028A/rs497692). Login to comment
118 Amino acid Carrier rate Variant Exon change RefSNP Patients and status in control (%) c.108T>C 4 D36D rs3815675 Heterozygous: P7, P11, P16 - c.270T>C 5 F90F rs4148777 Heterozygous: P6, P13 - c.807T>C 9 Y269Y rs2287616 Heterozygous: P7, P11, P16 - c.1009T>C 10 Y337H - Heterozygous: P5 0 c.1248C>A 12 I416I rs183390670 Heterozygous: P13 - c.1331T>C 13 V444A rs2287622 Heterozygous: P1, P5, P12, P16, P17, P19 94.5 Homozygous: P2, P3, P4, P6, P7, P8, P9, P10, P11, P14, P15, P18, P20 c.1415A>G 13 Y472C - Heterozygous: P3 0 c.2086C>T 18 R696W - Heterozygous: P11 0 c.2594C>T 21 A865V rs118109635 Heterozygous: P7, P17 - c.2782C>T 22 R928X - Heterozygous: P1 0 c.2792A>C 22 Q931P - Heterozygous: P4 0 c.3084A>G 24 A1028A rs497692 Heterozygous: P1, P8, P12, P13, P15, P16, P17, P20 90.5 Homozygous: P2, P3, P4, P5, P6, P7, P9, P10, P14, P18, P19 c.3392A>T 25 D1131V - Heterozygous: P3 0 c.3593A>G 26 H1198R - Heterozygous: P1 0 RefSNP refers to the reference SNP in the Single Nucleotide Polymorphism Database of NCBI. Login to comment
123 With the nonsense mutation, p.R928X is able to introduce a premature stop codon that results in premature protein truncation or failure of protein production, which had been reported previously in PFIC2 patients (26). Login to comment
135 Age of onset/ GGT TBA TBIL/DBIL ALT/AST Mutation Patient gender Symptoms (U/l) (&#b5;mol/l) (&#b5;mol/l) (U/l) Mutation origin P1 1 m/M Persistent jaundice, 49 101.3 162.5/130.4 432/606 Compound R928X, hepatosplenomegaly heterozygous maternal; p.R928X/p.H1198R H1198R, paternal. Login to comment
156 All the diseaseߛrelated mutations detected above were tested in 200 control subjects using HRM analysis to screen exon 10 (p.Y337H), exon 13 (p.Y472C), exon 18 (p.R696W), exon 22 (p.R928X), exon 22 (p.Q931P), exon 25 (p.D1131V) and exon 26 (p.H1198R). Login to comment
192 The missense mutation p.Y472C and nonsense mutation p.R928X, have been reported in PFIC2 patients of European populations and immunohistochemical staining for BSEP was undetectable (26-28,34). Login to comment
196 In exon 22, the melting curve of the patient with heterozygous p.R928X (c.2782C>T) shifted away from those without mutations or with homozygous mutations. Login to comment
198 Following direct sequencing, p.R928X was identified. Login to comment

PMID: 26382629 [PubMed] Li L et al: "Hypothyroidism Associated with ATP8B1 Deficiency."

No. Sentence Comment

71 ABCB11 mutations and immunostaining in patients with ABCB11 mutations Patient ID Sex Nucleotide change Amino acid change Mutation origin BSEP expression GGT expression 244 Female c.145C>T/- p.Q49X/- Paternal/- Absent Normal 653 Female c.1197+1G>T/c.1197+1G>T -/- Paternal/maternal Not assessed Not assessed 727 Male c.2782C>T/c.3593A>G p.R928X/p.H1198R Maternal/paternal Not assessed Not assessed 889 Female c.3457C>T/c.3623A>G p.R1153C/p.Y1208C Paternal/maternal Absent Normal 919 Female c.1493T>C/c.1493T>C p.I498T/p.I498T Paternal/maternal Not assessed Not assessed 996 Male c.612-2_4 CTA>TT/- -/- Maternal/- Absent Normal 1022 Male c.212T>A/c.677C>T p.L71H/p.S226L Paternal/maternal Absent Normal 1131 Male c.409G>A/c.2216delC p.E137K/p.P740QfsX6 De novo/paternal Absent Normal 1134 Male c.1760C>G/c.3677G>C p.S587X/p.R1226P Maternal/paternal Absent Absent 1139 Female c.2935A>G/c.3746T>G p.N979D/p.L1249X Not assessed Not assessed Not assessed 1140 Male c.542G>T/c.1370_1372dupGTG p.R181I/p.V458dup Maternal/paternal Not assessed Not assessed 1219 Female c.872T>C/c.3691C>T p.V291A/p.R1231W Maternal/paternal Not assessed Not assessed 334* Female c.2944G>A/- p.G982R/- Not assessed Normal Normal 802* Female c.3458G>A/- p.R1153H/- Not assessed Not assessed Not assessed 862* Male c.634G>A/c.849A>C/c.1638G>T p.A212T/p.E283D/p.Q546H Maternal/maternal/de novo Not assessed Not assessed 864* Male c.1727A>G/- p.N576S/- Paternal/- Normal Normal 1165* Male c.1583T>C/c.1583T>C p.I528T/p.I528T Not assessed Not assessed Not assessed 1167* Male c.334A>G/c.3233T>C p.I112V/p.I1078T Not assessed Not assessed Not assessed 1242* Male c.2783G>A/- p.R928Q/- Not assessed Not assessed Not assessed Bold: Novel mutation. Login to comment