Table 1 Summary of variations in ASD patients carrying WWP1 mutations.

From: WWP1 germline variants are associated with normocephalic autism spectrum disorder

Patient ID Sex Exon Position (Hg19) Nucleotide Amino acid Domain GnomAda dbSNP Transmission
GM4277 F Int 7 87414243 c.540-5T>C   NA 0.0027 rs187132881 Mother
GM3474 M 11 87439881 c.1167A>C p.Arg389Ser WW1 0 NA NA
A020 M 14 87443954 c.1583G>A p.Arg528His WW4 0.000008 rs554041348 Father
GM6802 F 20 87460703 c.2234A>G p.Asn745Ser HECT 0.00003 rs148651938 Mother
GM8105 M 20 87460703 c.2234A>G p.Asn745Ser HECT 0.00003 rs148651938 Father
GM-1HSL M 20 87460703 c.2234A>G p.Asn745Ser HECT 0.00003 rs148651938 NA
GM4098 F 20 87460645 c.2176G>A p.Val726Ile HECT 0.000023 rs144129917 Mother
GM8302 F 25 87479031 c.2678G>A p.Arg893His HECT 0 rs755897749 Father
A036 M 20 87460651 c.2182A>T p.Met728Leu HECT 0 NA Father
A069 M 5 87393781 c.257G>A p.Arg86His C2 0.000023 rs371650373 Mother
  1. aEUR.