Table 3

Amino acid sequence altering variants of TCF20 found in 342 ASD samples, comparison with controls, and family follow-up

Nucleotide changeAmino acid changeNumber of heterozygous ASD samples/total sequenced†Number of heterozygous control samples/total sequenced†Exome Variant Server (EA) expressed as rare/common allelesFamily follow-upPolyPhen-2 prediction
c.47G>Cp.S16T10/3318/353123/8477Benign (0.015)
c.1213A>Gp.M405V63/338 [4]61/351 [3]788/7812Benign (0)
c.1534A>Gp.K512E1/3370/3520De novoProbably damaging (0.970)
c.2164A>Gp.S722G102/338 [19]119/354 [8]1797/6803Benign (0)
c.3495G>Ap.M1165I1/3350/35611/8589Benign (0.01)
c.4670C>Tp.P1557L3/3350/7933/8597See figure 3Probably damaging (0.963)
c.5810C>Tp.P1937L1/3390/3542/8598Absent in affected sibling; present in unaffected siblingProbably damaging (0.988)
c.5825C>Ap.P1942H1/3390/3541/8599Absent in affected half-sibling; transmitted by non-shared parentPossibly damaging (0.634)
  • †The number of samples from each panel found to harbour the variant is shown next to the number of samples successfully screened. Numbers in square brackets refer to homozygous changes.

  • EA, European American.