Results for the protein: Q9C000

Results for the Protein: Q9C000

17380146

22861

NLRP1

NCBI, UniProt

NALP1_HUMAN RecName: Full=NACHT, LRR and PYD domains-containing protein 1; AltName: Full=Caspase recruitment domain-containing protein 7; AltName: Full=Death effector filament-forming ced-4-like apoptosis protein; AltName: Full=Nucleotide-binding domain and caspase recruitment domain

Known Diseases associated with this Protein:
  CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA (1 FAMILY)
  CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA (CIDED)
  VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1

3

13

2

6

8

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_NALPs - cd08320 Pyrin - cd08305 NACHT - pfam05729 LRR_RI - cd00116 LRR_RI - smart00368 CARD - pfam00619 CARD_ASC_NALP1 - cd08330 CARD - cd01671	Swiss-Prot Protein: Q9C000 Identical to: NP_127497 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Pyrin	cd08305	7.4e-42	9	87
LRR_RI	cd00116	1.2e-18	705	1017
CARD_ASC_NALP1	cd08330	2.7e-52	1380	1460
CARD	cd01671	1e-18	1382	1459
PYRIN	pfam02758	2.3e-10	5	88
CARD	pfam00619	1.2e-24	1379	1462
NACHT	pfam05729	3.1e-77	328	497
LRR_RI	smart00368	9.5e-05	807	834
LRR_RI	smart00368	3.2e-06	864	891
LRR_RI	smart00368	1.5e-08	921	948

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_020437	Polymorphism	p.ARG1366CYS	N/A
dbSNP	rs3744718	Polymorphism	p.ARG404GLN	N/A
Swiss-Prot	VAR_033241	Polymorphism	p.HIS1069TYR	N/A
dbSNP	rs73973843	Polymorphism	p.ILE601PHE	N/A
dbSNP	rs12150220	Polymorphism	p.LEU155HIS	N/A
Swiss-Prot	VAR_069901	Disease	p.MET77THR	Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED)
Swiss-Prot	VAR_033242	Polymorphism	p.MET1119VAL	N/A
Swiss-Prot	VAR_033243	Polymorphism	p.MET1184VAL	N/A
dbSNP	rs34733791	Polymorphism	p.THR995ILE	N/A
dbSNP	rs11657747	Polymorphism	p.THR878MET	N/A
Swiss-Prot	VAR_024238	Polymorphism	p.THR246SER	N/A
dbSNP	rs52795654	Polymorphism	p.THR782SER	N/A
Swiss-Prot	VAR_033244	Polymorphism	p.VAL1241LEU	N/A
Swiss-Prot	VAR_024239	Polymorphism	p.VAL1059MET	N/A
OMIM	606636.0001	Disease	p.LEU155HIS	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1
OMIM	606636.0002	Disease	p.MET77THR	CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA (1 family)

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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