Table 3.
Amino acid sequence altering variants of TCF20 found in 342 ASD samples, comparison with controls, and family follow-up
| Nucleotide change | Amino acid change | Number of heterozygous ASD samples/total sequenced† | Number of heterozygous control samples/total sequenced† | Exome Variant Server (EA) expressed as rare/common alleles | Family follow-up | PolyPhen-2 prediction |
|---|---|---|---|---|---|---|
| c.47G>C | p.S16T | 10/331 | 8/353 | 123/8477 | – | Benign (0.015) |
| c.162_167del | p.S55_G56del | 2/331 | 3/353 | 35/8219 | – | n/a |
| c.del966_968 | p.Q322del | 1/336 | 2/354 | 11/8243 | – | n/a |
| c.1213A>G | p.M405V | 63/338 [4] | 61/351 [3] | 788/7812 | – | Benign (0) |
| c.1534A>G | p.K512E | 1/337 | 0/352 | 0 | De novo | Probably damaging (0.970) |
| c.2164A>G | p.S722G | 102/338 [19] | 119/354 [8] | 1797/6803 | – | Benign (0) |
| c.3495G>A | p.M1165I | 1/335 | 0/356 | 11/8589 | – | Benign (0.01) |
| c.4670C>T | p.P1557L | 3/335 | 0/793 | 3/8597 | See figure 3 | Probably damaging (0.963) |
| c.5810C>T | p.P1937L | 1/339 | 0/354 | 2/8598 | Absent in affected sibling; present in unaffected sibling | Probably damaging (0.988) |
| c.5825C>A | p.P1942H | 1/339 | 0/354 | 1/8599 | Absent in affected half-sibling; transmitted by non-shared parent | Possibly 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.