Results for the protein: P59047

Results for the Protein: P59047

215274029

126206

NLRP5

NCBI, UniProt

NALP5_HUMAN RecName: Full=NACHT, LRR and PYD domains-containing protein 5; AltName: Full=Mater protein homolog

			0 8 0 6 2

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Default View: PYRIN - pfam02758 Pyrin_ASC-like - cd08321 Pyrin_NALPs - cd08320 NACHT - pfam05729 LRR_RI - smart00368 LRR_RI - cd00116	Swiss-Prot Protein: P59047 Identical to: NP_703148 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Pyrin_NALPs	cd08320	8.8e-47	63	148
LRR_RI	cd00116	7.5e-30	840	1165
PYRIN	pfam02758	2.6e-31	61	144
NACHT	pfam05729	1.4e-74	280	448
LRR_RI	smart00368	4.5e-05	836	863
LRR_RI	smart00368	3.3e-05	893	920
LRR_RI	smart00368	0.001	922	949
LRR_RI	smart00368	8.2e-08	1064	1091

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3103057	Polymorphism	p.ALA1097THR	N/A
Swiss-Prot	VAR_060102	Polymorphism	p.ARG1195GLN	N/A
dbSNP	rs17713875	Polymorphism	p.ARG761LEU	N/A
dbSNP	rs34395092	Polymorphism	p.HIS584PRO	N/A
dbSNP	rs471979	Polymorphism	p.MET459ILE	N/A
dbSNP	rs16986899	Polymorphism	p.MET912THR	N/A
dbSNP	rs12462795	Polymorphism	p.SER1108CYS	N/A
Swiss-Prot	VAR_060101	Polymorphism	p.VAL1181ILE	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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