Table 1.
sequence variable at the KIAA0767/DIP locus on chromosome 22q13. 3
| Nucleotide position * | DNA level | Nucleotide change | Codon | SNP-database | Genotypes of the individuals from each family | |||||
| 933 | 1045 | 727 | 857 | Ctrl | Allele frequency | |||||
| 45377716 | Intron 3 | C>T | - | rs 2076708 | CC | CC | CC | CC | CT | C: 0.9 T: 0.1 |
| 45379466 | Exon 5 | G>T | S1591 | - | GG | GG | GG | GT | GG | G: 0.9 T: 0.1 |
| 45385184 | Intron 11 | C>T | - | - | CT | CC | CC | CC | CT | C: 0.8 T: 0.2 |
| 45385356 | Intron 12 | A>C | - | rs 2076711 | AA | AA | AA | AA | AC | A: 0.9 C: 0.1 |
| 45391987 | Intron 16 | C>T | - | - | CC | CC | CC | CC | CT | C: 0.9 T: 0.1 |
| 45392051 | Intron 16 | T>C | - | - | TT | TT | TC | TC | TC | T: 0.7 C: 0.3 |
| 45392996 | Intron 16 | G>A | - | rs 2236028 | GA | GG | GG | GG | GA | G: 0.8 A: 0.2 |
* nt position according the UCSC Genome Browser May 2004 assembly [14; NM\_022766].
Nucleotide changes found by automated sequencing of amplicons of four individuals from pedigrees segregating periodic catatonia evaluated in a genome-wide linkage scan [3, 19]: 933 and 1045 (F20), 727 and 857 (F15,F17), and a control subject.