ABCB4 p.Arg582Gln
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PMID: 22343912
[PubMed]
Fang LJ et al: "Chinese children with chronic intrahepatic cholestasis and high gamma-glutamyl transpeptidase: clinical features and association with ABCB4 mutations."
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Sentence
Comment
6
Apart from c.139C>T (p.R47X), all were novel, including c.344þ2_þ3insT, c.1376A>G (p.D459G), c.1745G>A (p.R582Q), c.2077_2078delC (p.P693HfsX698), and c.3825_3826delA (p.M1276WfsX1308).
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ABCB4 p.Arg582Gln 22343912:6:116
status: NEW76 Apart from c.139C>T (p.R47X) (19), they were novel; they included c.344þ2_þ3insT, c.1376A>G (p.D459G), c.1745G>A (p.R582Q), c.2077_2078delC (p.P693HfsX698), and c.3825_3826delA (p.M1276WfsX1308).
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ABCB4 p.Arg582Gln 22343912:76:126
status: NEW83 Amino acid residues in the first highly conserved nucleotide-binding domains (NBDs) (residues 404-630) are affected by c.1376A>G (p.D459G) and c.1745G>A (p.R582Q).
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ABCB4 p.Arg582Gln 22343912:83:156
status: NEW87 The absolute differences between the 2 profile score sets are 1.988 and 2.468, respectively, indicating that c.1376A>G (p.D459G) is likely to affect protein function and that c.1745G>A (p.R582Q) is able to affect protein function.
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ABCB4 p.Arg582Gln 22343912:87:188
status: NEW88 ESE Finder predicted c.1376A>G (p.D459G) to decrease the splicing-factor score at a SF (splicing factor)2/alternative splicing factor (ASF)-binding site (from 3.960444 to 3.233662) and to abolish a SC35-binding site; it predicted c.1745G>A (p.R582Q) to enhance the splicing-factor score at a SF2/ASF-binding site (from 3.317899 to 3.765121), to abolish a SF2/ASF-binding site, and to generate a new SRp40-binding site.
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ABCB4 p.Arg582Gln 22343912:88:243
status: NEW92 MDR3 staining was completely absent with compound heterozygous mutations c.139C>T (p.R47X) and c.1745G>A (p.R582Q) (case 13, Fig. 1E).
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ABCB4 p.Arg582Gln 22343912:92:108
status: NEW144 Normal MDR3 staining (A) and normal BSEP staining (B) in control liver specimen; normal MDR3 staining (C) and normal BSEP staining (D) in case 6 without ABCB4 mutation; absence of MDR3 staining (E) and normal BSEP staining (F) in case 13 with compound heterozygous ABCB4 mutations c.139C>T (p.R47X) and c.1745G>A (p.R582Q); faint MDR3 staining (G) and normal BSEP staining (H) in case 11 with compound heterozygous ABCB4 mutations c.
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ABCB4 p.Arg582Gln 22343912:144:316
status: NEW