In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease

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• 作者：Boudour Khabou^a ; ^{Boudour.khabou.bio@gmail.com} ; Olfa Siala-Sahnoun^c ; Lamia Gargouri^b ; Emna Mkaouar-Rebai^c ; ^{emna.mkaouar@gmail.com} ; Leila Keskes^a ; Mongia Hachicha^b ; Faiza Fakhfakh^c
• 关键词：PFIC3 ; ABCB4 gene ; Codon usage ; Splicing ; mRNA stability
• 刊名：Computational Biology and Chemistry
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：65
• 期：Complete
• 页码：103-109
• 全文大小：1391 K
• 卷排序：65

文摘

We reported the first molecular diagnostic of PFIC3 in Tunisia. The first bioinformatic exploration of synonymous SNPs in ABCB4 gene. Potential implication of the c.175C > T variant in an aberrant splicing. The c.504C > T variation seems to affect the predicted mRNA stability.