Results for the protein: NP

Results for the Protein: NP_620596

73695936

11093

ADAMTS13

NCBI

A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL

15

6

15

6

0

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: ZnMc - cd00203 Reprolysin - pfam01421 ZnMc_salivary_gland_ - cd04272 ZnMc_ADAMTS_like - cd04273 ZnMc_adamalysin_II_l - cd04269 ZnMc_ADAM_like - cd04267 ACR - smart00608 TSP1 - smart00209 TSP_1 - pfam00090	RefSeq Protein: NP_620596 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnMc_ADAM_like	cd04267	1.7e-12	80	275
ZnMc_adamalysin_II_l	cd04269	5.2e-07	80	284
ZnMc_salivary_gland_	cd04272	2.5e-08	80	283
ZnMc_ADAMTS_like	cd04273	9.2e-103	80	283
Reprolysin	pfam01421	1.3e-08	80	286
TSP_1	pfam00090	4.7e-12	388	438
ACR	smart00608	9.4e-05	293	374
TSP1	smart00209	1.2e-15	387	439

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs28503257	Polymorphism	p.ALA1033THR	N/A
dbSNP	rs685523	Polymorphism	p.ALA900VAL	N/A
dbSNP	rs36090624	Polymorphism	p.ARG625HIS	N/A
dbSNP	rs34024143	Polymorphism	p.ARG7TRP	N/A
dbSNP	rs2301612	Polymorphism	p.GLN448GLU	N/A
dbSNP	rs28647808	Polymorphism	p.PRO618ALA	N/A
OMIM	604134.0020	Disease	p.ALA250VAL	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0003	Disease	p.ARG102CYS	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0011	Disease	p.ARG692CYS	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0007	Disease	p.ARG528GLY	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0005	Disease	p.ARG398HIS	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0014	Disease	p.ARG268PRO	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0006	Disease	p.CYS1024GLY	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0002	Disease	p.CYS951GLY	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0010	Disease	p.CYS1157TYR	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0015	Disease	p.CYS508TYR	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0015	Disease	p.GLN448GLU	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0013	Disease	p.GLN449TER	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0001	Disease	p.HIS96ASP	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0016	Disease	p.PRO475SER	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0004	Disease	p.THR196ILE	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258