ABCB11 p.Arg832Cys
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PMID: 19101985
[PubMed]
Byrne JA et al: "Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing."
No.
Sentence
Comment
93
Differential splice products were seen for six predicted ABCB11 missense mutations, leading to very low levels of wild-type splicing (indicated in parentheses): E297K (c.889GϾA; 50%; Fig. 2B), D482G (c.1445AϾG; 5%; Fig. 2C), R832C (c.2494CϾT; 50%; Fig. 2E), and S1144R (c.3432CϾA; 3%), R1153H (c.3458GϾA; 3%), and S1154P (c.3460TϾC; 3%; Fig. 2F).
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ABCB11 p.Arg832Cys 19101985:93:237
status: NEW111 Positive-acting and negative-act- Exon 14 D482G Aberrant product Exon 14Minigene Cryptic acceptor splice Exon 14 CTACCACCATTGCAGAAAATATTCGCTATG ATACCATCATCCCAGAAAATATTCGCTATG ATCTCTTTTCACCCAATTTCTACAGGGCAATGCTGGGGCAAGAT Exon 21Exon 20 R832C Aberrant product AAGGCTACGTAAATTTGGTTTCAGGGCAATGCTGGGGCAAGAT AAGGCTATGTAAATTTGGTTTCAGGGCAATGCTGGGGCAAGAT Exon 21 R832C Exon 21 Cryptic acceptor splice Exon 9 E297K Aberrant product CTGCTTTTGGTGGTGAGAAAAGAGAGGTTGAAAGgttggtta Normal donor splice siteCryptic donor splice site CTGCTTTTGGTGGTAAGAAAAGAGAGGTTGAAAGgttggttaE297K Exon 9 CTGCTTTTGGTGCTGTTCCTCCTCCCACTGACCTGCGATT MinigeneExon 9 Intron 9 Intron 9 S1144R, R1153H, S1154P Aberrant product Exon 26 ATACCATCATCCCAGGAACCAGTGTTGTTTGCCT Exon 26Minigene AATTGTTTCCCAGGAACCAGTGTTGTTTGCCTCAG Cryptic acceptor splice D Fig. 3.
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ABCB11 p.Arg832Cys 19101985:111:235
status: NEWX
ABCB11 p.Arg832Cys 19101985:111:354
status: NEW112 (A-D) Illustration of variant splice forms associated with ABCB11 mutations (A) E297K, (B) D482G, (C) R832C, and (D) S1144R, R1153H, and S1154P.
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ABCB11 p.Arg832Cys 19101985:112:102
status: NEW
No.
Sentence
Comment
89
Thus detectable BSEP expression (i.e. p.N490D, p.G562D, p.R832C, p.A1110E) does not exclude functional BSEP deficiency.
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ABCB11 p.Arg832Cys 19133130:89:58
status: NEW
PMID: 18395098
[PubMed]
Strautnieks SS et al: "Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families."
No.
Sentence
Comment
150
Missense Mutations in ABCB11 Nucleotide change Predicted effect Exon CpG site Location Change in: Size Charge Hyd/Pol Shape c.149Tb0e;C p.Leu50Ser 4 No NH2 term Y Y Y c.470Ab0e;G p.Tyr157Cys 6 No TM2 Y Y Y c.725Cb0e;T p.Thr242Ile 8 No TM4 Y Y c.890Ab0e;G p.Glu297Gly 9 No IC2 Y Y Y c.908Gb0e;A p.Arg303Lys 9 No IC2 c.937Cb0e;A p.Arg313Ser 10 Yes IC2 Y Y Y Y c.980Gb0e;A p.Gly327Glu 10 No TM5 Y Y Y c.1168Gb0e;C p.Ala390Pro 11 No TM/NBF Y c.1229Gb0e;A p.Gly410Asp 12 No TM/NBF Y Y c.1238Tb0e;G p.Leu413Trp 12 No TM/NBF c.1388Cb0e;T p.Thr463Ile 13 No Adj Walker A Y Y Y c.1396Cb0e;A p.Gln466Lys 13 No Adj Walker A Y c.1409Gb0e;A p.Arg470Gln 13 Yes Adj Walker A Y c.1415Ab0e;G p.Tyr472Cys 13 No Adj Walker A Y Y Y c.1442Tb0e;A p.Val481Glu 14 No NBF1 Y Y Y c.1445Ab0e;G p.Asp482Gly 14 No NBF1 Y Y c.1460Gb0e;C p.Arg487Pro 14 Yes NBF1 Y Y Y Y c.1468Ab0e;G p.Asn490Asp 14 No NBF1 Y c.1535Tb0e;C p.Ile512Thr 14 No NBF1 Y Y Y c.1544Ab0e;C p.Asn515Thr 14 No NBF1 Y Y c.1550Gb0e;A p.Arg517His 14 Yes NBF1 Y Y c.1621Ab0e;C p.Ile541Leu 14 No NBF1 c.1622Tb0e;C p.Ile541Thr 14 No NBF1 Y Y Y c.1643Tb0e;A p.Phe548Tyr 15 No Adj ABC c.1685Gb0e;A p.Gly562Asp 15 No ABC Y Y c.1708Gb0e;A p.Ala570Thr 15 Yes ABC/Walker B Y c.1763Cb0e;T p.Ala588Val 15 No Adj Walker B Y c.2272Gb0e;C p.Gly758Arg 19 No NBF/TM Y Y Y c.2296Gb0e;A p.Gly766Arg 19 Yes TM7 Y Y Y c.2494Cb0e;T p.Arg832Cys 21 Yes IC3 Y Y Y Y c.2576Cb0e;G p.Thr859Arg 21 No IC3 Y Y Y Y c.2842Cb0e;T p.Arg948Cys 23 Yes IC4 Y Y Y Y c.2935Ab0e;G p.Asn979Asp 23 No TM11 Y c.2944Gb0e;A p.Gly982Arg 23 Yes TM11 Y Y Y c.3086Cb0e;A p.Thr1029Lys 24 No TM12 Y Y Y Y c.3329Cb0e;A p.Ala1110Glu 25 Yes Adj Walker A Y Y Y c.3382Cb0e;T p.Arg1128Cys 25 Yes Adj Walker A Y Y Y Y c.3457Cb0e;T p.Arg1153Cys 26 Yes NBF2 Y Y Y Y c.3458Gb0e;A p.Arg1153His 26 Yes NBF2 Y Y c.3460Tb0e;C p.Ser1154Pro 26 No NBF2 Y c.3628Ab0e;C p.Thr1210Pro 27 No Adj ABC Y c.3691Cb0e;T p.Arg1231Trp 27 Yes ABC/Walker B Y Y c.3692Gb0e;A p.Arg1231Gln 27 Yes ABC/Walker B Y c.3724Cb0e;A p.Leu1242Ile 27 No Walker B c.3892Gb0e;A p.Gly1298Arg 28 No NBF2 Y Y Y NOTE.
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ABCB11 p.Arg832Cys 18395098:150:1439
status: NEW189 (E) BSEP staining in patient 29, homozygote for ABCB11 mutation yielding R832C.
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ABCB11 p.Arg832Cys 18395098:189:73
status: NEW207 Ten mutations occurred in multiple families: R470Q, R832C,33 R948C, A1110E, and R1231Q53 have now been reported in 2 families; R1090X2 in 3 families; G982R,1,2 R1153C,1,47 and R1153H in 4 families; and R575X in 6 families.1,2,32,45 Six common missense and nonsense changes occurred at non-CpG sites: R520X and A588V33 in 2 European families and E1302X and I541L33,54 in 3 European families each.
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ABCB11 p.Arg832Cys 18395098:207:52
status: NEW233 Abnormal BSEP staining was seen with L50S, Q466K, N515T, R517H, I541L, and F548Y and normal with N490D, G562D, R832C, and A1110E.
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ABCB11 p.Arg832Cys 18395098:233:111
status: NEW
PMID: 24644547
[PubMed]
Lisowska A et al: "Small intestinal bacterial overgrowth in patients with progressive familial intrahepatic cholestasis."
No.
Sentence
Comment
47
c.2494 C>T; p.Arg832Cys N/-/- 11.9 -1.73 -3.27 BD 0.9 5.6 13 M c.890 A>G; p.Glu297Gly.
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ABCB11 p.Arg832Cys 24644547:47:14
status: NEW
No.
Sentence
Comment
137
BSEP/Bsep NTCP ASBT Exon skipping E186G G1116R G319G R1128C T463I R1128H A926P E1186K A1028Aa R1231W A1110E Aberrant splicing E297K R1153H R832C S1154P S1144R No splice product T586I R1231Q Reduced plasma membrane expression E135K A570T I223T E297Gb N591Sb V444A R1050C Intracellular retention Y818F G982R Reduced or absent bile salt transport A570T R432T A64T K314E V98Ic M264V I206V Q558H I223T C144Y P290S E297Gb N591Sb S267F L243P G374S E1186K I279T T262M a A1028A induces significant exon skipping in vitro but probably not in vivo (unpublished data; Dro &#a8;ge, Ha &#a8;ussinger, Kubitz).
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ABCB11 p.Arg832Cys 25027376:137:139
status: NEW
PMID: 25847799
[PubMed]
Engelmann G et al: "Two Case Reports of Successful Treatment of Cholestasis With Steroids in Patients With PFIC-2."
No.
Sentence
Comment
9
The boy was compound heterozygous for the ABCB11 mutations c.150+3A.C and p.R832C and presented with intractable pruritus.
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ABCB11 p.Arg832Cys 25847799:9:76
status: NEW61 In the 20th coding exon a heterozygotic missense mutation c.2494C.T (p.R832C, inherited by the mother) was detected together with the heterozygotic splice site mutation c.150+3A.C distally to exon 3 (inherited by the father).
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ABCB11 p.Arg832Cys 25847799:61:71
status: NEW82 Patient 2 and his brother (our patient`s younger brother with the same phenotype but much lesser symptoms has not been treated with steroids so far) are compound heterozygous for the splice site mutation c.150+3A.C in intervening sequence 4 (IVS4) and the missense mutation c.2494C.T (p.R832C) in ABCB11 coding exon 20.
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ABCB11 p.Arg832Cys 25847799:82:287
status: NEW