PMID: 25016225

Vilarinho S, Erson-Omay EZ, Harmanci AS, Morotti R, Carrion-Grant G, Baranoski J, Knisely AS, Ekong U, Emre S, Yasuno K, Bilguvar K, Gunel M
Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations.
J Hepatol. 2014 Nov;61(5):1178-83. doi: 10.1016/j.jhep.2014.07.003. Epub 2014 Jul 10., [PubMed]
Sentences
No. Mutations Sentence Comment
105 ABCB11 p.Ala389Pro
X
ABCB11 p.Ala389Pro 25016225:105:205
status: NEW
view ABCB11 p.Ala389Pro details
ABCB11 p.Arg1226His
X
ABCB11 p.Arg1226His 25016225:105:398
status: NEW
view ABCB11 p.Arg1226His details
 One study showed that 7% 395 395 395 395 395 397 393 FATGRAAATSIFE FATGRAAATSIFE FATGRAAATSIFH FAAGRAAAASIFE FSTGCSAASSIFQ FATGRGAAANIFE FAAGRGAATIIFE Human Chimpanzee Dog Cow Mouse Chicken Zebrafish BSEP A389P SRGEKQRIAIARA SRGEKQRIAIARA SRGEKQRIAIARA SRGEKQRIAIARA SRGEKQRIAIARA SRGQKQRIAIARA SRGQKQRIAIARA Human Chimpanzee Dog Cow Mouse Chicken Zebrafish 1232 1232 1236 1235 1232 1245 1242 BSEP R1226H A C D E B Fig. 1. Login to comment 107 ABCB11 p.Ala389Pro
X
ABCB11 p.Ala389Pro 25016225:107:63
status: NEW
view ABCB11 p.Ala389Pro details
ABCB11 p.Arg1226His
X
ABCB11 p.Arg1226His 25016225:107:52
status: NEW
view ABCB11 p.Arg1226His details
 Compound heterozygous missense mutations in ABCB11: R1226H and A389P, and their conservation across species (A and B respectively). Login to comment