Table 1.
CARD14 Gain-of-function mutants associated with psoriatic skin disease.
| Protein | mRNA | SNP | MAF in ExAC | Disease | Penetrance | Inheritance | Zygosity | Co factor | References |
|---|---|---|---|---|---|---|---|---|---|
| G117S | c.349G>A | rs281875215 | not found | PsV | complete | AD | Het | no HLA-Cw(06:02) | (9) |
| PsV | Het | (10) | |||||||
| PsV | Incomplete (1 healthy carrier) | AD | Het | (36) | |||||
| PsV | (37) | ||||||||
| PsV and GPP | Incomplete (1 healthy carrier) | AD | cpd Het | other CARD14 variants HLA-Cw(06:02) | (40) | ||||
| GPP | Het | IL36RN Het mutation (S113L) | (76) | ||||||
| PRP type V | Incomplete (1 healthy carrier) | AD | Het | (56) | |||||
| CAPE | complete | AD | Hom | (39) | |||||
| splice | c.349 + 1G>A | rs886041402 | not found | familial PRP | incomplete | AD | Het | (12) | |
| GPP familial | Incomplete (2 healthy carriers) | AD | Het | (45) | |||||
| splice | c.349+5G>A | rs587777763 | not found | PsV | complete | AD | Het | no HLA-Cw(06:02) | (9) |
| CAPE | AD | Het | (39) | ||||||
| E138K | c.412G>A | not found | erythro PRP | de novo | Het | (58) | |||
| PRP type V sporadic | de novo | Het | (59) | ||||||
| CAPE | de novo | Het | (39) | ||||||
| E138A | c.413A>C | rs281875214 | not found | GPP | de novo | Het | no IL36RN/no HLA-Cw(06:02) | (9) | |
| PsV | Het | (10) | |||||||
| E138del | c.412_414delGAG | not found | familial PRP | incomplete | AD | Het | (12) | ||
| E142K | c.424G>A | rs281875212 | not found | PsV | Het | (10) | |||
| E142G | c.425A>G | rs281875213 | not found | PsV | Het | (10) | |||
| L156P | c.467T>C | rs387907240 | not found | familial PRP | complete | AD | Het | (12) | |
| CAPE | complete | AD | Het | (39) | |||||
| H171N | c.511C>A | rs281875216 | not found | PsV | Het | (10) | |||
| D176H | c.526G>C | rs144475004 | 0.00495 | PsV | Het | (10) | |||
| GPP with PsV | Het | no IL36RN/no HLA-Cw(06:02) | (44) | ||||||
| PsV | found in controls | (49) | |||||||
| GPP | Het | (38) | |||||||
| PPP | Het | no HLA-Cw(06:02) | (41) | ||||||
| PsV | Het | (51) | |||||||
| PPP | Het | (76) | |||||||
| PRP type I and IV | Het | (56) |
CARD14 mutations that were described as GoF based on in vitro functional studies.
AD, autosomal dominant; CAPE, CARD14-associated papulosquamous; CC, coiled-coil; GPP, generalized pustular psoriasis; Het, heterozygous; Hom, homozygous; PPP. Palmoplantar pustular psoriasis; PRP, pityriasis rubra pilaris; PsV, psoriasis vulgaris; Cpd, compound.