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Family pedigree and R1629 is highly conserved among mammal species, localized in the voltage sensor of domain IV.

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posted on 22.10.2013, 03:15 by Zhipeng Zeng, Jieqiong Zhou, Yuxi Hou, Xiaojing Liang, Ziguan Zhang, Xuejing Xu, Qiang Xie, Weihua Li, Zhengrong Huang

(A) Pedigree of the Chinese Han family. Male is shown as squares, female shown as circles. Filled symbols marked individual infected by BrS. Symbol”+” marked variation carrier for SCN5A c.4886G>A. The proband was male member with BrS, shown with an arrow (B) Chromatograms demonstrating heterologous peaks in nucleotide sequence. A heterozygous nucleic acid substitution (c.4886G>A) was screened in exon28 of the SCN5A gene from the proband’s DNA sample (C) Sequence alignment of the DIV-S4 around the altered amino acid residue 1629 showed a high degree of conservation when compared with orthologs of SCN5A among mammal species (D) Location of R1629Q mutation in the predicted topologic structure of the Nav1.5 channel, marked by a red “+” sign.

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