Identification of novel premature mutation (p.Tyr1957Ter) in the c-tail of CACNA1A in a Chinese EA2 family.

<p>A. Schematic of the bioinformatics analysis pipeline of data from next generation sequencing to identify nonsense mutation (p.Tyr1957Ter) in CACNA1A. SNP, single nucleotide polymorphism, InDels, insertions or deletions, BWA, Burrows-Wheeler Alignment Tool, SNV, single nucleotide variants. B. Confirmation of a heterozygous mutation in CACNA1A (c.6107C>A, NM_001127221.1, p.Tyr1957Ter, NP_001120693.1) by Sanger sequencing in the proband. C. A heterozygous C/A change at nucleotide 6107 in the affected individual D. C/C sequence at nucleotide 6107 in grandfather (I-1).