Table 2.
Summary of Autosomal-Recessive ASD CPAMD8 Mutations
| Family | Exon or Intron | Nucleotide Change | Protein Change | PolyPhen-2 (Human Variation Score 0–1) | SIFT (Tolerance Index 0–1) | PhyloP | UCL-ex (Exomes) | 1000 Genomes | NHLBI EVS Total Alleles |
ExAC Total Alleles |
|
|---|---|---|---|---|---|---|---|---|---|---|---|
| Het. | Homo. | ||||||||||
| 1 | exon 32 | c.4351T>C | p.Ser1451Pro | PRD (0.948) | damaging (0.01) | conserved (0.98) | 0/1,980 | 0 | 0/12,378 | 0/116,178 | 0/116,178 |
| 2 | exon 18 | c.2352_2353insC | p.Arg785Glnfs∗23 | NA | NA | NA | 0/1,980 | 0 | 21/11,520 | 47/115,670 | 0/115,670 |
| intron 33 | c.4549–1G>A | p.? | NA | NA | NA | 0/1,980 | 0 | 1/12,356 | 1/120,688 | 0/120,688 | |
| 3 | intron 7 | c.700+1G>T | p.? | NA | NA | NA | 0/1,980 | 0 | 0/12,140 | 0/120,212 | 0/120,212 |
| intron 29 | c.4002+1G>A | p.? | NA | NA | NA | 0/1,980 | 0 | 0/12,350 | 0/120,350 | 0/120,350 | |
In silico analysis of rare CPAMD8 variants identified. PolyPhen-2 appraises mutations quantitatively as benign, possibly damaging, or probably damaging (PRD) on the basis of the model’s false-positive ratio. SIFT results are reported to be tolerant if tolerance index is ≥0.05 or intolerant if tolerance index is <0.05. PhyloP prediction is conserved if score is >0.95, otherwise non-conserved. The cDNA is numbered according to GenBank: NM_015692.2. Abbreviations are as follows: NA, not available; UCL-ex, University College London (UCL) exomes consortium; NHLBI EVS, National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project Exome Variant Server (EVS); ExAC, Exome Aggregation Consortium; Het., heterozygote; Homo., homozygote.