Results for the protein: Q9H6X2

Results for the Protein: Q9H6X2

17366074

84168

ANTXR1

NCBI, UniProt

ANTR1_HUMAN RecName: Full=Anthrax toxin receptor 1; AltName: Full=Tumor endothelial marker 8; Flags: Precursor

Known Diseases associated with this Protein:
GAPO SYNDROME
HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO

2

2

2

1

1

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: vWA_ATR - cd01474 vWA_collagen_alpha_1 - cd01480 VWA - smart00327 vWA_micronemal_prote - cd01471 VWA_integrin_inverte - cd01476 vWA_collagen - cd01472 vWFA - cd00198 vWFA_subfamily_ECM - cd01450 vWA_integrins_alpha_ - cd01469 VWA - pfam00092 vWA_collagen_alphaI- - cd01482 Anth_Ig - pfam05587 Ant_C - pfam05586	Swiss-Prot Protein: Q9H6X2 Identical to: NP_115584 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
vWA_collagen_alpha_1	cd01480	0.00066	41	217
vWFA	cd00198	1.7e-23	43	199
vWFA_subfamily_ECM	cd01450	2.6e-28	43	199
vWA_integrins_alpha_	cd01469	5.3e-06	43	211
vWA_micronemal_prote	cd01471	2.6e-07	43	212
vWA_collagen	cd01472	2.1e-06	43	204
VWA_integrin_inverte	cd01476	2.1e-05	43	201
vWA_collagen_alphaI-	cd01482	9.7e-05	44	205
VWA	pfam00092	1.2e-17	44	215
VWA	smart00327	7.1e-17	42	216
Anth_Ig	pfam05587	6.4e-76	216	320
Ant_C	pfam05586	4.5e-52	396	489

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063146	Polymorphism	p.ALA326THR	N/A
dbSNP	rs28365986	Polymorphism	p.ARG7LYS	N/A
OMIM	606410.0001	Disease	p.ALA326THR	HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO
OMIM	606410.0002	Disease	p.ARG169TER	GAPO SYNDROME

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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