Results for the protein: Q96MN2

Results for the Protein: Q96MN2

148887404

147945

NLRP4

NCBI, UniProt

NALP4_HUMAN RecName: Full=NACHT, LRR and PYD domains-containing protein 4; AltName: Full=Cancer/testis antigen 58; Short=CT58; AltName: Full=PAAD and NACHT-containing protein 2; AltName: Full=PYRIN and NACHT-containing protein 2; AltName: Full=PYRIN-containing APAF1-like protein 4; AltName: Full=Ribonuclease inhibitor 2

			0 6 0 4 2

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Default View: PYRIN - pfam02758 Pyrin_ASC-like - cd08321 Pyrin_NALPs - cd08320 Pyrin - cd08305 NACHT - pfam05729 LRR_RI - cd00116 LRR_RI - smart00368	Swiss-Prot Protein: Q96MN2 Identical to: NP_604393 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Pyrin_NALPs	cd08320	2.1e-52	9	94
Pyrin	cd08305	2.9e-06	11	89
LRR_RI	cd00116	1.9e-24	639	962
PYRIN	pfam02758	2.5e-38	7	90
NACHT	pfam05729	2.7e-77	149	318
LRR_RI	smart00368	1.9e-06	806	833
LRR_RI	smart00368	6.7e-06	863	890

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs441827	Polymorphism	p.ALA144THR	N/A
Swiss-Prot	VAR_032764	Polymorphism	p.ARG708HIS	N/A
dbSNP	rs302453	Polymorphism	p.GLN925LEU	N/A
dbSNP	rs17857373	Polymorphism	p.GLU383ASP	N/A
Swiss-Prot	VAR_024829	Polymorphism	p.LEU774MET	N/A
dbSNP	rs17857374	Polymorphism	p.PRO390GLN	N/A

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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