ABCB4 p.Val1068Glu
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PMID: 20887599
[PubMed]
Denk GU et al: "ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene."
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27
The patient was heterozygous for the mutations c.523A>G and c.3203T>A in the ABCB4 gene on chromosome 7q21.1, resulting in a p.Thr175Ala and a p.Val1068Glu amino acid change of the encoded protein, the hepatic phospholipid translocator MDR3, in accordance with the diagnosis of ABCB4 deficiency.
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ABCB4 p.Val1068Glu 20887599:27:145
status: NEW55 The mutation c.3203T>A results in a p.Val1068Glu amino acid change. There is a moderate physicochemical difference between valine and glutamic acid (Grantham distance 121 [normal 0-215]).12 The amino acid valine at position 1068 is a highly conserved amino acid in 10 of 11 species (up to pufferfish Tetraodon, but not in frog), and is located at the C-terminal part of the protein.
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ABCB4 p.Val1068Glu 20887599:55:38
status: NEW