Results for the protein: Q86W28

Results for the Protein: Q86W28

143355070

126205

NLRP8

NCBI, UniProt

NALP8_HUMAN RecName: Full=NACHT, LRR and PYD domains-containing protein 8; AltName: Full=Nucleotide-binding oligomerization domain protein 16; AltName: Full=PYRIN and NACHT-containing protein 4

			0 15 0 12 3

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Default View: PYRIN - pfam02758 Pyrin_NALPs - cd08320 Pyrin - cd08305 NACHT - pfam05729 LRR_RI - cd00116 LRR_RI - smart00368	Swiss-Prot Protein: Q86W28 Identical to: NP_789781 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Pyrin	cd08305	0.0006	41	118
LRR_RI	cd00116	1.8e-14	651	965
PYRIN	pfam02758	2.7e-28	37	119
NACHT	pfam05729	5.4e-36	204	373
LRR_RI	smart00368	6.1e-06	923	950
LRR_RI	smart00368	0.00093	980	1007

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11880691	Polymorphism	p.ALA234THR	N/A
dbSNP	rs41391053	Polymorphism	p.ALA543VAL	N/A
dbSNP	rs75864168	Polymorphism	p.ARG690CYS	N/A
dbSNP	rs41481648	Polymorphism	p.ARG651TRP	N/A
dbSNP	rs7259764	Polymorphism	p.GLN268ARG	N/A
dbSNP	rs61740015	Polymorphism	p.GLN865ARG	N/A
dbSNP	rs11880748	Polymorphism	p.GLN367GLU	N/A
Swiss-Prot	VAR_036385	Polymorphism	p.GLN1045LEU	N/A
Swiss-Prot	VAR_036384	Polymorphism	p.GLU375VAL	N/A
dbSNP	rs61195059	Polymorphism	p.LEU64PHE	N/A
dbSNP	rs306481	Polymorphism	p.LYS937ARG	N/A
Swiss-Prot	VAR_036383	Polymorphism	p.PRO126ARG	N/A
dbSNP	rs306507	Polymorphism	p.PRO25LEU	N/A
dbSNP	rs306496	Polymorphism	p.VAL782ALA	N/A
dbSNP	rs306506	Polymorphism	p.VAL116LEU	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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