ABCB11 p.Gly1003Glu
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PMID: 25085279
[PubMed]
Davit-Spraul A et al: "Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene."
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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.
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ABCB11 p.Gly1003Glu 25085279:71:197
status: NEW