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Table 2 Polymorphisms at the KIAA1646/CERK locus in periodic catatonia

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

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

  1. * nt position according the UCSC Genome Browser May 2004 assembly [14; NM\_022766].