Results for the protein: NP

Results for the Protein: NP_620595

21265043

11093

ADAMTS13

NCBI

A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 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_ADAMTS_like - cd04273 ZnMc_ADAM_like - cd04267 ZnMc_salivary_gland_ - cd04272 ZnMc_adamalysin_II_l - cd04269 ACR - smart00608 TSP1 - smart00209 TSP_1 - pfam00090	RefSeq Protein: NP_620595 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnMc_adamalysin_II_l	cd04269	7.2e-06	80	280
ZnMc_salivary_gland_	cd04272	1e-07	80	282
ZnMc_ADAMTS_like	cd04273	4.2e-98	80	282
ZnMc_ADAM_like	cd04267	1.7e-12	80	275
Reprolysin	pfam01421	4.9e-07	80	279
TSP_1	pfam00090	4.7e-12	357	407
ACR	smart00608	0.00087	263	343
TSP1	smart00209	1.2e-15	356	408

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs28503257	Polymorphism	p.ALA1002THR	N/A
dbSNP	rs685523	Polymorphism	p.ALA869VAL	N/A
dbSNP	rs36090624	Polymorphism	p.ARG594HIS	N/A
dbSNP	rs34024143	Polymorphism	p.ARG7TRP	N/A
dbSNP	rs2301612	Polymorphism	p.GLN417GLU	N/A
dbSNP	rs28647808	Polymorphism	p.PRO587ALA	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.ARG661CYS	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0007	Disease	p.ARG497GLY	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0005	Disease	p.ARG367HIS	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0014	Disease	p.ARG268PRO	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0002	Disease	p.CYS920GLY	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0006	Disease	p.CYS993GLY	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0010	Disease	p.CYS1126TYR	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0015	Disease	p.CYS477TYR	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0015	Disease	p.GLN417GLU	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0013	Disease	p.GLN418TER	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0001	Disease	p.HIS96ASP	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0016	Disease	p.PRO444SER	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM	604134.0004	Disease	p.THR196ILE	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL

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