Results for the protein: Q15399

Results for the Protein: Q15399

146291086

7096

TLR1

NCBI, UniProt

TLR1_HUMAN RecName: Full=Toll-like receptor 1; AltName: Full=Toll/interleukin-1 receptor-like protein; Short=TIL; AltName: CD_antigen=CD281; Flags: Precursor

Known Diseases associated with this Protein:
LEPROSY, PROTECTION AGAINST
LEPROSY, SUSCEPTIBILITY TO, 5

2

18

2

8

10

Tips:

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Default View: LRRCT - smart00082 LRRCT - pfam01463 TIR - smart00255 TIR - pfam01582	Swiss-Prot Protein: Q15399 Identical to: NP_003254 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TIR	pfam01582	1.5e-52	639	775
LRRCT	smart00082	6.7e-14	524	578
TIR	smart00255	2.1e-49	636	779

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs5743611	Polymorphism	p.ARG80THR	N/A
dbSNP	rs4833095	Polymorphism	p.ASN248SER	N/A
dbSNP	rs76796448	Polymorphism	p.HIS352ASN	N/A
dbSNP	rs3923647	Polymorphism	p.HIS305LEU	N/A
Swiss-Prot	VAR_066348	Polymorphism	p.HIS720PRO	N/A
dbSNP	rs5743612	Polymorphism	p.HIS118TYR	N/A
Swiss-Prot	VAR_066341	Polymorphism	p.ILE75THR	N/A
Swiss-Prot	VAR_066343	Polymorphism	p.ILE460VAL	N/A
Swiss-Prot	VAR_052358	Polymorphism	p.LEU631ARG	N/A
Swiss-Prot	VAR_031919	Polymorphism	p.PRO315LEU	N/A
dbSNP	rs5743621	Polymorphism	p.PRO733LEU	N/A
dbSNP	rs5743618	Polymorphism	p.SER602ILE	N/A
dbSNP	rs76600635	Polymorphism	p.SER44PRO	N/A
Swiss-Prot	VAR_066345	Polymorphism	p.TYR554CYS	N/A
Swiss-Prot	VAR_066344	Polymorphism	p.VAL542ALA	N/A
Swiss-Prot	VAR_066346	Polymorphism	p.VAL651ALA	N/A
Swiss-Prot	VAR_066347	Polymorphism	p.VAL674ALA	N/A
Swiss-Prot	VAR_031920	Polymorphism	p.VAL587GLY	N/A
OMIM	601194.0002	Disease	p.ASN248SER	LEPROSY, SUSCEPTIBILITY TO, 5
OMIM	601194.0001	Disease	p.ILE602SER	LEPROSY, PROTECTION AGAINST

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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