Table 2.
Rare variants in the clustered protocadherin genes
| Gene | Subject code | Variant | Protein | SIFT/SNPeffect/Indel impact | Polyphen2/SNPeffect/Indel impact |
|---|---|---|---|---|---|
| PCDHA6 | 698 | GAC/CAC | D376H | 0.00 | D |
| PCDHA8 | 869 | –/−65 | High | High | |
| PCDHA12 | 841 | GAA/GAC | E253D | 0.00 | D |
| PCDHB2 | 975 | AAC/AACATCACC | N420NIT | Moderate | Moderate |
| PCDHB3 | 692 | –/−577 | High | High | |
| PCDHB4 | 1321 | GAG/GGG | E648G | 0.00 | P |
| PCDHB8 | 816 | –/ACAGAGACACC | −494TET (?) | High | High |
| PCDHB10 | 698 | GAC/GAG | D443E | 0.00 | D |
| PCDHB14 | 698 | CCC/TCC | P449S | 0.00 | D |
| PCDHB16 | 698 | GGC/AGC | G665S* | 0.45 | P |
| PCDHGA8 | 709 | GGT/GTT | G70 V | 0.01 | D |
| 852 | TCC/CCC | S179P | 0.06 | D | |
| PCDHGB1 | 816 | CAT/CGT | H755R* | 0.04 | B |
| 1255 | CGA/CCA | R89P | 0.00 | D | |
| PCDHGB7 | 588 | CCC/– | P679− | Moderate | Moderate |
| 629 | –/−105 | High | High |
(?) Unable to make the exact prediction for the protein
* Variant scored only by SIFT or by Polyphen2