Results for the protein: O60603

Results for the Protein: O60603

20140434

7097

TLR2

NCBI, UniProt

TLR2_HUMAN RecName: Full=Toll-like receptor 2; AltName: Full=Toll/interleukin-1 receptor-like protein 4; AltName: CD_antigen=CD282; Flags: Precursor

Known Diseases associated with this Protein:
LEPROSY, SUSCEPTIBILITY TO, 3
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

2

9

2

3

6

Tips:

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Default View: LRR_TYP - smart00369 LRR - smart00370 LRRCT - smart00082 TIR - smart00255	Swiss-Prot Protein: O60603 Identical to: NP_003255 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LRR	smart00370	0.00043	99	122
LRRCT	smart00082	1.4e-12	533	586
TIR	smart00255	5.2e-45	640	784

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs5743708	Polymorphism	p.ARG753GLN	N/A
Swiss-Prot	VAR_066350	Polymorphism	p.ARG571HIS	N/A
dbSNP	rs5743703	Polymorphism	p.ARG579HIS	N/A
Swiss-Prot	VAR_031236	Polymorphism	p.ARG677TRP	N/A
Swiss-Prot	VAR_066349	Polymorphism	p.ASN89ASP	N/A
dbSNP	rs5743704	Polymorphism	p.PRO631HIS	N/A
Swiss-Prot	VAR_066351	Polymorphism	p.SER636ARG	N/A
Swiss-Prot	VAR_026765	Polymorphism	p.THR411ILE	N/A
Swiss-Prot	VAR_052360	Polymorphism	p.TYR715ASN	N/A
OMIM	603028.0003	Disease	p.ARG753GLN	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
OMIM	603028.0001	Disease	p.ARG677TRP	LEPROSY, SUSCEPTIBILITY TO, 3

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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