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