ABCB11 p.Lys930*
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 16763017
[PubMed]
Lang T et al: "Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11)."
No.
Sentence
Comment
286
A splicing mutation (ϩ3)AϾC (intron 4) combined with a frameshift mutation in exon 22 (p.K930X), resulting in a PFIC2 phenotype and two nonsynonymous variants in exon 9 (p. E297G) and in exon 12 (p.R432T), were encountered in the patient exhibiting a BRIC (benign recurrent intrahepatic cholestasis) phenotype.
X
ABCB11 p.Lys930* 16763017:286:101
status: NEW
PMID: 17181454
[PubMed]
Sakurai A et al: "Prediction of drug-induced intrahepatic cholestasis: in vitro screening and QSAR analysis of drugs inhibiting the human bile salt export pump."
No.
Sentence
Comment
120
H2N COOH S56L G238V G260D C336S L339V V444A K461E D482G T923P K930X G982R R1090X R1153C Outside Inside R1268Q A1228VE1186K R1128H R1057X R1050C A926P A865V R698H E636G M677V S593R E592Q N591S R575XA570T Q558H I498T R432T R415Q R299K E297G V284A I206V S194P E186G cholestasis Expert Opin. Drug Saf. (2007) 6(1) Table 1.
X
ABCB11 p.Lys930* 17181454:120:62
status: NEW
PMID: 16039748
[PubMed]
Noe J et al: "Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis."
No.
Sentence
Comment
81
The parents of the patient had normal liver enzyme levels and no clinical signs of hepatopathy. 3.1.1. Sequencing Sequence analysis in the index patient detected a heterozygous splicing mutation in intron 4 (C3)AOC combined with a heterozygous insertion of five basepairs (GAGAT) in exon 21 predicting a frameshift with the introduction of an early stop codon at amino acid position 930 (K930X).
X
ABCB11 p.Lys930* 16039748:81:388
status: NEW82 Analysis of the patient`s parents indicated that the intron 4 (C3)AOC mutation was inherited from the mother, while the K930X mutation was inherited from the father (Fig. 1).
X
ABCB11 p.Lys930* 16039748:82:120
status: NEW124 Compound heterozygosity for a splicing mutation in intron 4 (C3)AOC combined with a frameshift mutation in exon 22 (K930X) resulted in a PFIC2 phenotype with early onset progressive cholestasis.
X
ABCB11 p.Lys930* 16039748:124:116
status: NEW