Results for the protein: P59046

Results for the Protein: P59046

34223733

91662

NLRP12

NCBI, UniProt

NAL12_HUMAN RecName: Full=NACHT, LRR and PYD domains-containing protein 12; AltName: Full=Monarch-1; AltName: Full=PYRIN-containing APAF1-like protein 7; AltName: Full=Regulated by nitric oxide

Known Diseases associated with this Protein:
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2

1

2

1

2

0

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 - smart00368 LRR_RI - cd00116	Swiss-Prot Protein: P59046 Identical to: NP_653288 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Pyrin_NALPs	cd08320	1.8e-43	11	95
Pyrin	cd08305	6e-05	13	90
LRR_RI	cd00116	1.5e-43	716	1039
PYRIN	pfam02758	7.3e-35	9	91
NACHT	pfam05729	8.8e-88	211	381
LRR_RI	smart00368	5e-05	712	739
LRR_RI	smart00368	1.3e-06	769	796
LRR_RI	smart00368	6.5e-07	826	853
LRR_RI	smart00368	2.8e-07	883	910
LRR_RI	smart00368	4.3e-05	940	967
LRR_RI	smart00368	0.00017	997	1024

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34436714	Polymorphism	p.GLY39VAL	N/A
dbSNP	rs34971363	Polymorphism	p.PHE402LEU	N/A
OMIM	609648.0001	Disease	p.ARG284TER	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258