PMID: 23548013

Jaquotot-Herranz M, Casanova-Martinez L, Olveira-Martin A, Castillo-Grau P, Alvarez-Garcia L, Jara-Vega P, Gea-Rodriguez F
Clinical variability of mutations in the ABCB11 gene: a case report.
Rev Esp Enferm Dig. 2013 Jan;105(1):52-4., [PubMed]
Sentences
No. Mutations Sentence Comment
40 ABCB11 p.Leu233Ser
X
ABCB11 p.Leu233Ser 23548013:40:99
status: NEW
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ABCB11 p.Leu233Ser
X
ABCB11 p.Leu233Ser 23548013:40:123
status: NEW
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 The first mutation was found in exon 8 (change T>C in nucleotide 698), meaning the substitution of leucine 233 for serine (L233S) took place. Login to comment 41 ABCB11 p.Tyr1311*
X
ABCB11 p.Tyr1311* 23548013:41:125
status: NEW
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 The second was in exon 27 (change C>A in nucleotide 3933) which entailed the substitution of tyrosine 1311 for a stop codon (Y1311X). Login to comment 67 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 23548013:67:85
status: NEW
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 On the other hand, a recent study identified some mutations in BSEP deficiency, like D482G , that cause the illness to assume a more indolent path, with less progression of liver disease and better chances of survival (5). Login to comment