ABCB4 p.Asp459Gly
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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
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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.Asp459Gly 22343912:6:95
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.Asp459Gly 22343912:76:105
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.Asp459Gly 22343912:83:132
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.Asp459Gly 22343912:87:122
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.Asp459Gly 22343912:88:34
status: NEW93 Faint MDR3 staining was found with compound heterozygous mutations c.1376A>G (p.D459G) and M1276WfsX1308 (case 11, Fig. 1G).
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ABCB4 p.Asp459Gly 22343912:93:80
status: NEW145 3825_3826delA (p.M1276WfsX1308) and c.1376A>G (p.D459G).
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ABCB4 p.Asp459Gly 22343912:145:49
status: NEW