Table 1.
Genetic variants in CPG2 exons
| Genome Position (GRCh37) chr6: |
SNP | Variant allele |
MAF (1000G) |
SYNE1 exon # |
AA residue Substitution in human CPG2 |
effect on spine localization |
effect on GluA2/GluN1 internalization |
|---|---|---|---|---|---|---|---|
| 152784621 | rs9397509 | A/G | G=0.004 | 19 | Q171R | no | no |
| 152779933 | rs34610829 | C/T | T=0.011 | 22 | R359C* | n/a | n/a |
| 152777095 | rs17082709 | T/G | G=0.043 | 23 | L401V* | n/a | n/a |
| 152776571 | rs76646638 | G/A | A=0.002 | 24 | R477Q | no | yes |
| 152776571 | rs201146062 | C/T | T=0.001 | 24 | R477W | n/a | n/a |
| 152774753 | rs148346599 | G/A | A=0.002 | 25 | E515K | n/a** | n/a** |
| 152772264 | rs214976 | T/C | T=0.39 | 26 | V551A | yes | no |
| 152771967 | rs141464488 | T/C | C=0.001 | 27 | V579A | n/a | n/a |
| 152768738 | rs116939102 | C/T | T=0.0002 | 29 | T691I | no | yes |
| 152768726 | rs117461489 | A/C | C=0.0008 | 29 | E695A | no | no |
| 152762307 | rs149109801 | T/A | A=0.0002 | 32 | F885L | n/a | n/a |
| 152757224 | rs34028822 | C/T | 0.0029 | 33 | R904W | yes | yes |
*
Not conserved between rat and human.
**
Low expression in cellular assays