Results for the protein: O15455

Results for the Protein: O15455

20140422

7098

TLR3

NCBI, UniProt

TLR3_HUMAN RecName: Full=Toll-like receptor 3; AltName: CD_antigen=CD283; Flags: Precursor

Known Diseases associated with this Protein:
  HERPES SIMPLEX ENCEPHALITIS 2 (HSE2)
  HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
  HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO

3

4

2

3

2

Tips:

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Default View: LRR_TYP - smart00369 LRR - smart00370 LRRCT - smart00082 TIR - smart00255	Swiss-Prot Protein: O15455 Identical to: NP_003256 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LRR	smart00370	0.00019	98	121
LRR_TYP	smart00369	0.00046	505	528
LRR	smart00370	0.00046	505	528
LRRCT	smart00082	4.4e-12	645	697
TIR	smart00255	1.2e-31	755	900

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_052361	Polymorphism	p.ASN284ILE	N/A
dbSNP	rs3775291	Polymorphism	p.LEU412PHE	N/A
Swiss-Prot	VAR_054887	Disease	p.PRO554SER	Herpes simplex encephalitis 2 (HSE2)
dbSNP	rs5743318	Polymorphism	p.SER737THR	N/A
dbSNP	rs5743317	Polymorphism	p.TYR307ASP	N/A
OMIM	603029.0002	Disease	p.LEU412PHE	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
OMIM	603029.0001	Disease	p.PRO554SER	HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2

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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