Table 3.
Some common NLRP3 mutations identified with associated diseases
| Gene mutation | Gene | Disease | Reference |
|---|---|---|---|
| CYS148TYR rs180177487 |
NLRP3 | CINCA | 111 |
| ILE172THR rs180177449 |
NLRP3 | CINCA | 112 |
| VAL198MET rs121908147 |
NLRP3 | FCAS | 113,114 |
| CYS259TRP rs180177475 |
NLRP3 | FCAS | 115 |
| ARG260TRP rs121908150 |
NLRP3 | MWS/FCAS | 116 |
| VAL262ALA rs104895392 |
NLRP3 | CINCA | 115 |
| LEU264PHE rs180177476 |
NLRP3 | CINCA | 115 |
| LEU264HIS rs180177436 |
NLRP3 | CINCA | 115 |
| ASP303ASN rs121908153 |
NLRP3 | CINCA/MWS | 116,117 |
| GLU304LYS rs180177484 |
NLRP3 | CINCA | 118 |
| LEU305PRO rs180177431 |
NLRP3 | FCAS | 59 |
| GLN306LYS rs180177432 |
NLRP3 | CINCA | 117 |
| PHE309SER rs121908154 |
NLRP3 | CINCA | 117 |
| GLU311LYS rs180177470 |
NLRP3 | MWS | 119 |
| SER331ARG rs180177451 |
NLRP3 | CINCA | 120 |
| THR348MET rs151344629 |
NLRP3 | MWS | 116 |
| ALA352VAL rs121908149 |
NLRP3 | MWS | 114 |
| LEU353PRO rs28937896 |
NLRP3 | FCAS | 121 |
| HIS358ARG rs180177434 |
NLRP3 | CINCA | 117 |
| ALA374ASP rs180177437 |
NLRP3 | CINCA | 115 |
| MET406ILE rs180177486 |
NLRP3 | CINCA | 118 |
| HIS412PRO rs180177488 |
NLRP3 | MWS | 122 |
| TYR859CYS rs180177452 |
NLRP3 | CINCA | 133 |
| THR436ALA rs180177483 |
NLRP3 | FCAS | 123 |
| THR436ASN rs180177433 |
NLRP3 | CINCA | 117 |
| ALA439THR rs180177430 |
NLRP3 | MWS | 116 |
| ALA439VAL rs121908146 |
NLRP3 | FCAS | 114,124 |
| PHE443LEU rs180177477 |
NLRP3 | CINCA | 115 |
| ASN477LYS rs180177485 |
NLRP3 | CINCA | 118 |
| ILE480PHE rs180177482 |
NLRP3 | CINCA/MWS | 125 |
| ARG488LYS rs145268073 |
NLRP3 | FCAS | 126 |
| PHE523CYS rs180177478 |
NLRP3 | MWS | 115 |
| PHE523LEU rs180177439 |
NLRP3 | CINCA | 115 |
| GLU525LYS rs180177458 |
NLRP3 | FCAS | 127 |
| TYR563ASN rs180177479 |
NLRP3 | FCAS | 115 |
| GLU567LYS rs104895389 |
NLRP3 | MWS | 128 |
| GLY569ARG rs121908151 |
NLRP3 | MWS | 116 |
| TYR570CYS rs180177438 |
NLRP3 | CINCA | 129 |
| PHE573SER rs121908152 |
NLRP3 | CINCA | 117 |
| GLU627GLY rs121908148 |
NLRP3 | FCAS | 114,130 |
| MET659LYS rs180177457 |
NLRP3 | FCAS | 127 |
| MET662THR rs180177435 |
NLRP3 | CINCA | 117 |
| GLU688LYS rs104895414 |
NLRP3 | CINCA | 118 |
| GLY755ARG rs180177469 |
NLRP3 | CINCA | 131 |
| GLU755ALA rs180177473 |
NLRP3 | CINCA | 115 |
| GLY809SER rs141389711 |
NLRP3 | CINCA | 132 |
Abbreviations: CINCA, chronic infantile neurological cutaneous and articular syndrome; FCAS, familial cold autoinflammatory syndrome; MWS, Muckle-wells syndrome.