ABCB4 p.Thr175Val
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PMID: 11313316
[PubMed]
Rosmorduc O et al: "MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis."
No.
Sentence
Comment
155
Sequencing of amplified genomic DNA confirmed the homozygosity of patients 1 and 4 for mutation S320F, the heterozygosity of patients 2 and 3 for mutation 1327insA, the heterozygosity of patient 5 for mutation T175V, and the homozygosity of patient 6 for mutation P1161S.
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ABCB4 p.Thr175Val 11313316:155:210
status: NEW165 The early occurrence of gallstones in these patients might be consistent with an MDR3 dose effect similar to those observed for Jag1 gene expression in some patients with Alagille syndrome.18 A missense mutation changed an amino acid threonine into a valine (T175V; patient 5).
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ABCB4 p.Thr175Val 11313316:165:259
status: NEW
PMID: 25888430
[PubMed]
Maciag A et al: "Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases."
No.
Sentence
Comment
62
The rs58238559 single-nucleotide polymorphism (SNP) is located in the ABCB4 gene on chr7:87082273, and determines the nucleotide variation A599G (NM_000443.3) (Figure 2), producing the amino acid change Thr175Ala (NP_000434.1).
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ABCB4 p.Thr175Val 25888430:62:11
status: NEW63 Of note, a Thr175Val variation at the same position has been previously related to gallbladder disease in a sporadic case [18], while ABCB4 mutations are usually associated with familial forms of the disease [19].
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ABCB4 p.Thr175Val 25888430:63:11
status: NEW