Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia

BMC Psychiatry

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.

ISSN: 1471-244X