ABCB11 p.Gly1003Glu
| Predicted by SNAP2: | A: D (66%), C: D (75%), D: D (85%), E: D (91%), F: D (85%), H: D (91%), I: D (80%), K: D (91%), L: D (85%), M: D (80%), N: D (80%), P: D (91%), Q: D (91%), R: D (91%), S: D (66%), T: D (75%), V: D (80%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Liver transcript analysis reveals aberrant splicin... Mol Genet Metab. 2014 Nov;113(3):225-9. doi: 10.1016/j.ymgme.2014.07.006. Epub 2014 Jul 15. Davit-Spraul A, Oliveira C, Gonzales E, Gaignard P, Therond P, Jacquemin E
Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene.
Mol Genet Metab. 2014 Nov;113(3):225-9. doi: 10.1016/j.ymgme.2014.07.006. Epub 2014 Jul 15., [PMID:25085279]
Abstract [show]
BACKGROUND: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an autosomal recessive disease due to mutations in ABCB11. ABCB11 encodes the bile salt export pump (BSEP), the major transporter responsible for biliary bile acid secretion, which expression is restricted to hepatocytes. In some patients, molecular analysis of ABCB11 revealed either exonic or intronic variations - including common polymorphisms - predicted to affect splicing according to in silico analysis or in vitro minigene studies. Transcript analysis in liver tissue is the best way to determine whether the variations predicted to affect splicing are deleterious or not. METHODS AND RESULTS: We performed ABCB11 transcript analysis in liver tissue from five PFIC2 patients who had variations which were predicted to either affect splicing or not. Among eleven variants tested, only the silent c.3003A>G variant and the intronic c.3213+4A>G variant led to abnormal splicing as suggested by in silico analysis. CONCLUSION: ABCB11 liver transcript analysis is a useful tool to confirm or invalidate the predicted splicing effect of a silent or intronic ABCB11 variation.
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No. Sentence Comment
43 Patient 3 is compound heterozygous for the non-sense mutation p.Tyr1041X and the missense mutation p.Gly1003Glu.
X
ABCB11 p.Gly1003Glu 25085279:43:101
status: NEW71 Maternal allele Paternal allele Patient 1 c.3213+4ANG p.Val444Ala&#b0; p.Arg1153Cys p.Val444Ala&#b0; Patient 2 p.Gly982Arg p.Val444Ala&#b0; p.Phe90Phe&#b0; c.3003ANG (silent p.Arg1001) Patient 3 p.Gly1003Glu p.Val444Ala&#b0; p.Ala1028Ala** p.Tyr1041X p.Val444Ala&#b0; Patient 4 p.Tyr354X p.Gly319Gly* p.Met677Val&#b0; p.Ala1028Ala** c.389+8GNA p.Gly982Arg Patient 5 p.Arg1128Cys* p.Val444Ala&#b0; p.Met677Val&#b0; p.Thr1086Thr p.Arg1128Cys p.Val444Ala&#b0; p.Met677Val&#b0; p.Thr1086Thr In bold: disease-causing mutation. In italic: common variation.
X
ABCB11 p.Gly1003Glu 25085279:71:197
status: NEW