Results for the protein: NP

Results for the Protein: NP_055737

7662386

22861

NLRP1

NCBI

NACHT, LRR and PYD domains-containing protein 1 isoform 2 [Homo sapiens]

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

2

12

2

12

0

Tips:

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

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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	RefSeq Protein: NP_055737 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	1336	1416
CARD	cd01671	1e-18	1338	1415
PYRIN	pfam02758	2.3e-10	5	88
CARD	pfam00619	1.2e-24	1335	1418
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 ↕
dbSNP	rs2137722	Polymorphism	p.ARG1322CYS	N/A
dbSNP	rs3744718	Polymorphism	p.ARG404GLN	N/A
dbSNP	rs73973843	Polymorphism	p.ILE601PHE	N/A
dbSNP	rs12150220	Polymorphism	p.LEU155HIS	N/A
dbSNP	rs35596958	Polymorphism	p.MET1119VAL	N/A
dbSNP	rs11651270	Polymorphism	p.MET1184VAL	N/A
dbSNP	rs34733791	Polymorphism	p.THR995ILE	N/A
dbSNP	rs11657747	Polymorphism	p.THR878MET	N/A
dbSNP	rs11651595	Polymorphism	p.THR246SER	N/A
dbSNP	rs52795654	Polymorphism	p.THR782SER	N/A
dbSNP	rs11653832	Polymorphism	p.VAL1241LEU	N/A
dbSNP	rs2301582	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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