Table 2.
Autosomal recessive mutations in ORAI1 and STIM1 genes that cause CRAC channelopathy
| Gene | Mutation | Type of mutation |
mRNA | Protein | SOCE | ICRAC | Primary Immuno- deficiency |
Auto- immunity |
Ectodermal Dysplasia Anhidrosis |
Muscular Hyptonia |
Ref |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ORAI1 | R91W | missense | normal | normal | – | – | yes | – | yes | yes | 11 |
| ORAI1 | A88SfsX25 | insertion | – | – | – | – | yes | Yes | yes | yes | 29 |
| ORAI1 | A103E / L194P | missense | ↓↓ | – | – | nt | yes | – | yes | yes | 29 |
| STIM1 | E128RfsX9 | insertion | – | – | – | nt | yes | Yes | yes | yes | 35 |
| STIM1 | 1538-1G>A (exon 8) | spice site | – | – | – | nt | (yes) | Yes | yes | yes | 59 |