ABCB4 p.Gly773Val
Predicted by SNAP2: | A: N (57%), C: D (59%), D: D (66%), E: D (75%), F: D (71%), H: D (66%), I: D (59%), K: D (85%), L: D (75%), M: D (63%), N: N (78%), P: D (80%), Q: D (66%), R: D (85%), S: N (66%), T: N (53%), V: D (66%), W: D (80%), Y: D (71%), |
Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] ABCB4 mutations underlie hormonal cholestasis but ... World J Gastroenterol. 2014 May 21;20(19):5867-74. doi: 10.3748/wjg.v20.i19.5867. Jirsa M, Bronsky J, Dvorakova L, Sperl J, Smajstrla V, Horak J, Nevoral J, Hrebicek M
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.
World J Gastroenterol. 2014 May 21;20(19):5867-74. doi: 10.3748/wjg.v20.i19.5867., [PMID:24914347]
Abstract [show]
AIM: To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal contraceptives to prompt clinical manifestations of multidrug resistance protein 3 deficiency. METHODS: Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional family members). The probands came to medical attention for contraceptive-associated intrahepatic cholestasis. RESULTS: A possibly pathogenic variant of ABCB4 was found only in one of the 35 pediatric subjects with idiopathic cholesterol gallstones whereas 15 members of the studied 5 LPAC kindreds were confirmed and another one was highly suspected to carry predictably pathogenic mutations in ABCB4. Among these 16, however, none developed gallstones in childhood. In 5 index patients, all young females carrying at least one pathogenic mutation in one allele of ABCB4, manifestation of LPAC as intrahepatic cholestasis with elevated serum activity of gamma-glutamyltransferase was induced by hormonal contraceptives. Variants ABCB11 c.1331T>C and ABCG8 c.55G>C were not significantly overrepresented in the 35 examined patients with suspect LPAC. CONCLUSION: Clinical criteria for LPAC syndrome caused by mutations in ABCB4 cannot be applied to pediatric patients with idiopathic gallstones. Sexual immaturity even prevents manifestation of LPAC.
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No. Sentence Comment
75 Another predicted amino acid substitution (p.Gly773Val, localized in transmembrane domain 8 and caused by the novel mutation c.2318G>T) was found in a heterozygous state in patient 32.
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ABCB4 p.Gly773Val 24914347:75:45
status: NEW94 Table 2 Known variations in ABCB4, ABCB11 and ABCG8 found in 35 pediatric subjects with idiopathic gallstones in pediatric patients with idiopathic gallstones who met clinical criteria for the diagnosis of LPAC was the variation c.2318G>T (p.Gly773Val ) found in a heterozygous state in only one affected subject.
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ABCB4 p.Gly773Val 24914347:94:242
status: NEW74 Another predicted amino acid substitution (p.Gly773Val, localized in transmembrane domain 8 and caused by the novel mutation c.2318G>T) was found in a heterozygous state in patient 32.
X
ABCB4 p.Gly773Val 24914347:74:45
status: NEW93 Table 2 Known variations in ABCB4, ABCB11 and ABCG8 found in 35 pediatric subjects with idiopathic gallstones in pediatric patients with idiopathic gallstones who met clinical criteria for the diagnosis of LPAC was the variation c.2318G>T (p.Gly773Val ) found in a heterozygous state in only one affected subject.
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ABCB4 p.Gly773Val 24914347:93:242
status: NEW