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Table 1 sequence variable at the KIAA0767/DIP locus on chromosome 22q13. 3

From: Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked 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
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
  1. * nt position according the UCSC Genome Browser May 2004 assembly [14; NM\_022766].
  2. 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.