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Table 1 Novel missense variants identified in EHMT1 , EHMT2 and WIZ genes from autism spectrum disorders (ASD) cases and controls

From: Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects

Gene Chromosome position Exon cDNA position Amino acid change Protein domain Autism count Control count* PolyPhen2 Provean SIFT
EHMT1 9,140611506,C,T Exon3 c.514C > T p.Pro172Ser - 2 - Possibly damaging Neutral Damaging
EHMT1 9,140638415,C,T Exon6 c.1,043C > T p.Ser348Leu - 2 - Possibly damaging Deleterious Damaging
EHMT1 9,140707493,A,G Exon20 c.2,903A > G p.Lys968Arg ANK repeat domain 1 0 Possibly damaging Neutral Tolerated
EHMT2 6,31857330,C,- Exon8 c.913_915delGGA p.Glu305del - 1 - NA NA NA
EHMT2 6,31851617,G,A Exon22 c.2,882C > T p.Thr961Ile SET domain 1 0 Possibly damaging Neutral Tolerated
WIZ 19,15535180,C,T Exon7 c.2,039G > A p.Arg680His - 1 - Probably damaging Neutral Damaging
  1. Legend: ‘-’ denotes that the corresponding variant was not examined in control samples because it was located outside of a functional domain; ANK, ankyrin repeat domain; SET, Su(var)3-9-Enhancer of zeste-Trithorax domain.
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Molecular Autism

ISSN: 2040-2392