Results for the protein: Q96P20

Results for the Protein: Q96P20

262527566

114548

NLRP3

NCBI, UniProt

NALP3_HUMAN RecName: Full=NACHT, LRR and PYD domains-containing protein 3; AltName: Full=Angiotensin/vasopressin receptor AII/AVP-like; AltName: Full=Caterpiller protein 1.1; Short=CLR1.1; AltName: Full=Cold autoinflammatory syndrome 1 protein; AltName: Full=Cryopyrin; AltName: Full=PYRIN-containing APAF1-like protein 1

Known Diseases associated with this Protein:
  CHRONIC INFANTILE NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME (CINCA)
  CINCA SYNDROME
  FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
  FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (FCAS1)
  FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1, INCLUDED
  MUCKLE-WELLS SYNDROME
  MUCKLE-WELLS SYNDROME (MWS)
  MUCKLE-WELLS SYNDROME, INCLUDED

41

1

10

1

31

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: PYRIN - pfam02758 Pyrin_ASC-like - cd08321 Pyrin_NALPs - cd08320 Pyrin - cd08305 NACHT - pfam05729 LRR_RI - cd00116 LRR_RI - smart00368	Swiss-Prot Protein: Q96P20 Identical to: NP_004886, NP_001073289 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Pyrin_NALPs	cd08320	9.9e-44	8	93
Pyrin	cd08305	6e-06	10	88
LRR_RI	cd00116	1.5e-67	575	1036
PYRIN	pfam02758	2.3e-35	6	89
NACHT	pfam05729	1.9e-80	220	389
LRR_RI	smart00368	3.2e-09	740	767
LRR_RI	smart00368	4.4e-09	797	824
LRR_RI	smart00368	1.4e-07	911	938
LRR_RI	smart00368	9.4e-09	968	995

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_014369	Disease	p.ALA441THR	Muckle-Wells syndrome (MWS)
Swiss-Prot	VAR_013228	Disease	p.ALA354VAL	Muckle-Wells syndrome (MWS)
Swiss-Prot	VAR_013229	Disease	p.ALA441VAL	Familial cold autoinflammatory syndrome 1 (FCAS1)
Swiss-Prot	VAR_043680	Disease	p.ARG262LEU	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_043689	Disease	p.ARG490LYS	Familial cold autoinflammatory syndrome 1 (FCAS1)
Swiss-Prot	VAR_043681	Disease	p.ARG262PRO	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_014104	Disease	p.ARG262TRP	Muckle-Wells syndrome (MWS)
Swiss-Prot	VAR_014105	Disease	p.ASP305ASN	Muckle-Wells syndrome (MWS)
Swiss-Prot	VAR_043683	Disease	p.ASP305GLY	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_043684	Disease	p.GLN308LEU	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
dbSNP	rs35829419	Polymorphism	p.GLN705LYS	N/A
Swiss-Prot	VAR_043686	Disease	p.GLU356ASP	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_013230	Disease	p.GLU629GLY	Familial cold autoinflammatory syndrome 1 (FCAS1)
Swiss-Prot	VAR_014107	Disease	p.GLY571ARG	Muckle-Wells syndrome (MWS)
Swiss-Prot	VAR_014367	Disease	p.HIS360ARG	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_043679	Disease	p.ILE174THR	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_043682	Disease	p.LEU266HIS	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_043692	Disease	p.LEU634PHE	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_014124	Disease	p.LEU307PRO	Muckle-Wells syndrome (MWS)
Swiss-Prot	VAR_043685	Disease	p.LEU355PRO	Familial cold autoinflammatory syndrome 1 (FCAS1)
Swiss-Prot	VAR_014370	Disease	p.MET664THR	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_031853	Disease	p.PHE525CYS	Familial cold autoinflammatory syndrome 1 (FCAS1)
Swiss-Prot	VAR_043690	Disease	p.PHE525LEU	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_014106	Disease	p.PHE311SER	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_014108	Disease	p.PHE575SER	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_014368	Disease	p.THR438ASN	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_043688	Disease	p.THR438ILE	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_014366	Disease	p.THR350MET	Muckle-Wells syndrome (MWS)
Swiss-Prot	VAR_043687	Disease	p.THR407PRO	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_043691	Disease	p.TYR572CYS	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_023551	Disease	p.TYR861CYS	Chronic infantile neurologic cutaneous and articular syndrome (CINCA)
Swiss-Prot	VAR_013227	Disease	p.VAL200MET	Muckle-Wells syndrome (MWS)
OMIM	606416.0004	Disease	p.ALA352VAL	MUCKLE-WELLS SYNDROME
OMIM	606416.0001	Disease	p.ALA439VAL	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
OMIM	606416.0005	Disease	p.ARG260TRP	MUCKLE-WELLS SYNDROME\|\|FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1, INCLUDED
OMIM	606416.0008	Disease	p.ASP303ASN	CINCA SYNDROME\|\|MUCKLE-WELLS SYNDROME, INCLUDED
OMIM	606416.0003	Disease	p.GLU627GLY	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
OMIM	606416.0006	Disease	p.GLY569ARG	MUCKLE-WELLS SYNDROME
OMIM	606416.0010	Disease	p.LEU353PRO	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
OMIM	606416.0009	Disease	p.PHE309SER	CINCA SYNDROME
OMIM	606416.0007	Disease	p.PHE573SER	CINCA SYNDROME
OMIM	606416.0002	Disease	p.VAL198MET	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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