Annotation Detail
Information
- Associated Genes
- NLRP3
- Associated Variants
-
NLRP3 p.Arg260Ter (p.R260*)
(
ENST00000366496.7,
ENST00000348069.7,
ENST00000474792.2,
ENST00000391827.3,
ENST00000391828.8,
ENST00000336119.8,
ENST00000643234.2,
ENST00000697350.1,
ENST00000697408.2 )
NLRP3 p.Val262Ala (p.V262A) ( ENST00000643234.2, ENST00000348069.7, ENST00000366496.7, ENST00000336119.8, ENST00000697350.1, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000697408.2 )
NLRP3 p.Val262Gly (p.V262G) ( ENST00000474792.2, ENST00000391828.8, ENST00000391827.3, ENST00000697408.2, ENST00000366496.7, ENST00000348069.7, ENST00000643234.2, ENST00000697350.1, ENST00000336119.8 )
NLRP3 p.Gly301Ser (p.G301S) ( ENST00000697350.1, ENST00000336119.8, ENST00000643234.2, ENST00000348069.7, ENST00000366496.7, ENST00000697408.2, ENST00000391828.8, ENST00000474792.2, ENST00000391827.3 )
NLRP3 p.Gly301Cys (p.G301C) ( ENST00000366496.7, ENST00000643234.2, ENST00000348069.7, ENST00000336119.8, ENST00000697350.1, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000697408.2 )
NLRP3 p.Asp303Asn (p.D303N) ( ENST00000336119.8, ENST00000474792.2, ENST00000391827.3, ENST00000348069.7, ENST00000366496.7, ENST00000391828.8, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Asp303His (p.D303H) ( ENST00000474792.2, ENST00000391827.3, ENST00000391828.8, ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Ala439Thr (p.A439T) ( ENST00000348069.7, ENST00000697350.1, ENST00000336119.8, ENST00000643234.2, ENST00000366496.7, ENST00000697408.2, ENST00000391828.8, ENST00000474792.2, ENST00000391827.3 )
NLRP3 p.Ala439Pro (p.A439P) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Arg260Ter (p.R260*) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Val262Ala (p.V262A) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Val262Gly (p.V262G) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Gly301Ser (p.G301S) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Gly301Cys (p.G301C) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Asp303Asn (p.D303N) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Asp303His (p.D303H) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Ala439Thr (p.A439T) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Ala439Pro (p.A439P) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 ) - Associated Disease
- Amyloid nephropathy
- Source Database
- DisGeNET
- Description
- Muckle-Wells syndrome was most likely, although no amyloid nephropathy was observed and no gene mutations of CIAS1 (T785C, C778T, G907A, G1315A, G1075C) were detected.
- Pubmed
- 16556280
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2006
Drugs