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 |