Results for the protein: NP

Results for the Protein: NP_003259

16751843

7100

TLR5

NCBI

toll-like receptor 5 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO
  MELIOIDOSIS, RESISTA
  SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED;;

2

7

2

7

0

Tips:

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Default View: LRR - smart00370 LRR_TYP - smart00369 LRRCT - smart00082 TIR - smart00255 TIR - pfam01582	RefSeq Protein: NP_003259 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LRR_TYP	smart00369	0.00011	94	117
LRR	smart00370	0.00011	94	117
LRR_TYP	smart00369	2.7e-07	501	524
LRR	smart00370	2.7e-07	501	524
LRRCT	smart00082	1.3e-07	579	630
TIR	smart00255	4.1e-35	692	837

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2072493	Polymorphism	p.ASN592SER	N/A
dbSNP	rs5744167	Polymorphism	p.ASN143THR	N/A
dbSNP	rs45528236	Polymorphism	p.GLN181LYS	N/A
dbSNP	rs5744171	Polymorphism	p.LEU487ILE	N/A
dbSNP	rs5744174	Polymorphism	p.PHE616LEU	N/A
dbSNP	rs5744166	Polymorphism	p.PRO112ALA	N/A
dbSNP	rs764535	Polymorphism	p.THR82ILE	N/A
OMIM	603031.0001	Disease	p.ARG392TER	LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO\|\|SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED;;\|\|MELIOIDOSIS, RESISTA
OMIM	603031.0002	Disease	p.ASN592SER	LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

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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