ABCB11 p.Ala389Pro
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PMID: 25016225
[PubMed]
Vilarinho S et al: "Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations."
No.
Sentence
Comment
105
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.
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ABCB11 p.Ala389Pro 25016225:105:205
status: NEW107 Compound heterozygous missense mutations in ABCB11: R1226H and A389P, and their conservation across species (A and B respectively).
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ABCB11 p.Ala389Pro 25016225:107:63
status: NEW