Molecular Vision: Kawasaki, Mol Vis 2012; 18:2954-2960. Table 2

Table 2. List of mutations thus far reported within the PIKFYVE gene in FCD patients.

Region	Nucleotide change	Amino acid change	Original description	Report
Exon 16	c.2098delA	p.Asn701ThrfsX7	2256delA	Li et al. [15]
Exon 16	c.2116_2117delCT	p.Leu706ValfsX6	2274delCT	Li et al. [15]
Intron 19	c.3619 −1G>C	p.Val1207AlafsX11	IVS19–1G→C,intron 19	Li et al. [15]
Exon 19	c.2551C>T	p.Arg851X	R851X	Li et al. [15]
Exon 19	c.2962C>T	p.Gln988X	Q988X	Li et al. [15]
Exon 19	c.3088G>T	p.Glu1030X	E1030X	Li et al. [15]
Exon 19	c.3112C>T	p.Arg1038X	R1038X	Li et al. [15]
Exon 19	c.3308A>G	p.Lys1103Arg	K1103R	Li et al. [15]
Exon 19	c.2902_2905delCCTT	p.Asp1021ThrfsX28	c.3060–3063delCCTT	Kotoulas et al. [13]
Exon 24	c.4166_4169delAAGT	p.Glu1389AspfsX16	p.Glu1389AspfsX16	This report

The notation convention of the nucleotide and amino acid changes follows the nomenclature guidelines of human genome variation society (HGVS). Note that there is a confusing situation in that the numbers of the exons and the intron of the PIKFYVE mutations listed in IC3D [21] appear to be incorrect, while those originally described by Li et al. [15] are correct. There is also another confusing situation in that the nucleotide number of the mutation reported by Li et al. and Kotoulas et al. [13] appears to be of mRNA, not of the coding sequence. We corrected this nucleotide number so that it is now in accordance with the nomenclature convention of the HGVS.