Table 1 of
Kawasaki, Mol Vis 2012; 18:2954-2960. Table 1 of
Kawasaki, Mol Vis 2012; 18:2954-2960.
Table 1. List of nucleotide changes identified in our FCD patient.
| # | Region | Nucleotide change | Zygosity | Type of mutation | Effects on amino acid | SNP |
|---|---|---|---|---|---|---|
| 1 | Intron 9 | g.32610C>T | Homozygous | Substitution | none (non-coding) | none |
| 2 | Intron 15 | g.48601A>G | Homozygous | Substitution | none (non-coding) | none |
| 3 | Exon 16 | c.2087G>A | Homozygous | Substitution | p.696S>N | rs10932258 |
| 4 | Exon 16 | c.2106C>T | Homozygous | Substitution | p.702p>P | rs10932259 |
| 5 | Exon 19 | c.2795T>C | Homozygous | Substitution | p.932L>S | rs2363468 |
| 6 | Exon 19 | c.2984A>T | Homozygous | Substitution | p.995Q>L | rs893254 |
| 7 | Exon 19 | c.2993C>G | Homozygous | Substitution | p.998T>S | rs893253 |
| 8 | Exon 19 | c.2984A>T | Homozygous | Substitution | p.995Q>L | rs893254 |
| 9 | Exon 19 | c.2993C>G | Homozygous | Substitution | p.998T>S | rs893253 |
| 10 | Exon 19 | c.3547C>A | Homozygous | Substitution | p.1183Q>K | rs1529979 |
| 11 | Exon 19 | c.3564T>C | Homozygous | Substitution | p.1188n>N | rs1529978 |
| 12 | Exon 24 | c.4166_4169delAAGT | Heterozygous | Insertion | p.Glu1389AspfsX16 | none |
| 13 | Intron 27 | g.65496T>C | Homozygous | Substitution | none (non-coding) | none |
| 14 | Intron 31 | g.73584G>A | Homozygous | Substitution | none (non-coding) | none |
| 15 | Intron 32 | g.73754C>T | Homozygous | Substitution | none (non-coding) | none |
| 16 | Exon 34 | c.5334G>A | Homozygous | Substitution | p.1778T>T | rs2304545 |
| 17 | Exon 35 | c.5397A>G | Homozygous | Substitution | p.1799T>T | rs2118297 |
| 18 | Intron 35 | g.79205A>G | Homozygous | Substitution | none (non-coding) | none |
| 19 | Exon 36 | c.5526A>G | Homozygous | Substitution | p.1842E>E | rs994697 |
| 20 | Exon 38 | c.5727G>T | Heterozygous | Substitution | p.1909A>A | none |
| 21 | Intron 39 | g.82947A>G | Homozygous | Substitution | none (non-coding) | none |