ABCMdb

PMID: 20887599

Denk GU, Bikker H, Lekanne Dit Deprez RH, Terpstra V, van der Loos C, Beuers U, Rust C, Pusl T
ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.
Hepatol Res. 2010 Sep;40(9):937-41., [PubMed]

Sentences

No. Mutations Sentence Comment

27 ABCB4 p.Thr175Ala ABCB4 p.Val1068Glu 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. Login to comment 55 ABCB4 p.Val1068Glu 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. Login to comment 58 ABCB4 p.Thr175Ala The other mutation c.523A>G results in a p.Thr175Ala amino acid change. There is a small physicochemical difference between threonine and glutamic acid (Grantham distance 58 [normal 0-215]). Login to comment