Table 2.
Polymorphisms at the KIAA1646/CERK locus in periodic catatonia
| Nucleotide position* | DNA level | Nucleotide change | Codon | SNP-database | Genotypes of the individuals from each family | |||||
| 933 | 1045 | 727 | 857 | Ctrl | Allele frequency | |||||
| 45437424 | Exon 2 | G>A | C50 | rs 12166204 | GG | GA | GG | GG | GG | G: 0.9; A: 0.1 |
| 45418024 | Intron 7 | C>T | - | rs 16995595 | GT | CC | CC | CC | CC | C: 0.9; T: 0.1 |
| 45415928 | Intron 7 | C>G | - | - | CG | GG | CG | CC | CG | C: 0.5; G: 0.5 |
| 45415691 | Intron 8 | C>G | - | rs 5767329 | CC | CC | CG | CG | CC | C: 0.8; G: 0.2 |
| 45411750 | Intron 8 | G>A | - | rs 9616098 | GG | GG | GG | GG | GA | G: 0.9; A: 0.1 |
| 45411662 | Exon 9 | A>C | V338G | - | AA | AA | AA | AA | AC | A: 0.9; C: 0.1 |
| 45409793 | Intron 10 | G>A | - | - | GG | GG | GA | GA | GG | G: 0.8; A: 0.2 |
| 45408189 | Exon 11 | G>A | D377 | - | GA | GG | GG | GG | GA | G: 0.8; A: 0.2 |
| 45406443 | Exon 12 | G>A | D502 | - | GG | GG | GA | GA | GG | G: 0.8; A: 0.2 |
| 45403531 | 3'- UTR | T>A | - | - | TA | TT | TA | TA | AA | T: 0.5; A: 0.5 |
| 45403529 | 3'-UTR | T>C | - | rs 2542014 | TC | TT | TC | TC | CC | T: 0.5; C: 0.5 |
| 45403096 | 3'-UTR | G>T | - | rs 8143065 | GG | GG | GT | GT | GG | G: 0.8; T: 0.2 |
| 45402864 | 3'-UTR | C>T | - | rs 801719 | CC | CC | CT | CT | CT | C: 0.7; T: 0.3 |
| 45402678 | 3'-UTR | C>A | - | rs 801720 | CC | CC | CA | CA | AA | C: 0.6; A: 0.4 |
| 45402542 | 3'-UTR | G>A | - | rs 3747258 | GG | GG | GA | GA | GG | G: 0.8; A: 0.2 |
| 45402502 | 3'-UTR | C>T | - | - | CC | CC | CT | CT | CC | C: 0.8; T: 0.2 |
| 45402374 | 3'-UTR | A>G | - | rs 2748348 | AA | AA | AG | AG | AA | A: 0.8; G: 0.2 |
* nt position according the UCSC Genome Browser May 2004 assembly [14; NM\_022766].