ABCB4 p.Ala953Asp
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PMID: 15841457
[PubMed]
Keitel V et al: "Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis."
No.
Sentence
Comment
38
Clinical and Laboratory Parameters of PFIC Patients Patients Clinical Parameters Laboratory Parameters Diagnosis Onset of Symptoms Age at LTx BS (<8 M) ␥GT (<25 U/l) Bilirubin (<1 mg/dL) MDR3-Mutation MDR3- IF BSEP- IF PFIC Type C1 F.A. 4 m 3 y 5 m 47 7 1.3 None detected ϩ - 2 C2 A.A. 3 m 2 y 5 m 144 19 22.6 None detected ϩ - 2 C3 S.H. 3 m 3 y 3 m 616 77 22.7 None detected ϩ - 2 C4 M.D. 6 m 10 y 7 m 160 7 5.4 None detected ϩ - 2 C5 T.A. 6 m 4 y 2 m 414 11 5.4 555 A 3 G/T175A Heterozygous ϩ - 2 C6 M.D. 4 m 7 y 9 m 163 26 11.2 1069 G 3 T/S346I ϩ ϩ 3 C7 S.F. birth 8 y 7 m 299 250 1.9 1069 G 3 T/8346I* ϩ ϩ 3 C8 K.Y. 6 m 3 y 10 m 85 277 0.5 2890 C 3 A/A953D ϩ ϩ 3 C9 K.B. 4 m 3 y 8 m 360 165 1.1 426-432 del† - ϩ 3 C10 B.D. 7 y 11 y 4 m 199 24 20.7 None detected - ϩ 3 NOTE.
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ABCB4 p.Ala953Asp 15841457:38:724
status: NEW109 Two different mutations were found in the three patients with detectable canalicular MDR3 immunoreactivity (S346I and A953D).
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ABCB4 p.Ala953Asp 15841457:109:118
status: NEW168 Normal canalicular MDR3 localization associated with this mutation was already reported for child C7.39 A second MDR3 mutation (A953D, C8) identified in this study has not been described so far.
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ABCB4 p.Ala953Asp 15841457:168:128
status: NEW
PMID: 19840255
[PubMed]
Poupon R et al: "Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3."
No.
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Comment
7
One of them (c.959C 4 T; p.Ser320Phe) was previously implicated in LPAC and the second one (c.2858C 4 A; p.Ala953Asp) in PFIC3.
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ABCB4 p.Ala953Asp 19840255:7:107
status: NEW89 Sequence ABCB4 gene analysis showed the presence of composite heterozygous double alterations affecting exon 9 (c.959C 4 T; p.Ser320Phe) and exon 23 (c.2858C4 A; p.Ala953Asp) in both siblings (Fig. 1, arrows).
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ABCB4 p.Ala953Asp 19840255:89:164
status: NEW111 The other one was located in exon 23, and resulted in a substitution of alanine for aspartic acid (p.Ala953Asp).
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ABCB4 p.Ala953Asp 19840255:111:101
status: NEW135 (Ala953Asp), previously reported in a homozygous state in PFIC3 (3) and one heterozygous missense mutation (Ser320Phe) previously reported in LPAC (5).
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ABCB4 p.Ala953Asp 19840255:135:1
status: NEW136 The Ser320Phe has never been described in PFIC3 (1-3) and the Ala953Asp has never been found in LPAC [(4, 5) and unpublished personal data].
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ABCB4 p.Ala953Asp 19840255:136:62
status: NEW
No.
Sentence
Comment
108
The A286 V mutation was inactive, the S320F was fully active but its expression reduced to 50%, and the A953D mutation affected both the expression and the activity of ABCB4.
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ABCB4 p.Ala953Asp 24953525:108:104
status: NEW