Results for the protein: Q76LX8

Results for the Protein: Q76LX8

74749836

11093

ADAMTS13

NCBI, UniProt

ATS13_HUMAN RecName: Full=A disintegrin and metalloproteinase with thrombospondin motifs 13; Short=ADAM-TS 13; Short=ADAM-TS13; Short=ADAMTS-13; AltName: Full=von Willebrand factor-cleaving protease; Short=vWF-CP; Short=vWF-cleaving protease; Flags: Precursor

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

58

17

15

6

54

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	Swiss-Prot Protein: Q76LX8 Identical to: NP_620594 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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067786	Disease	p.ALA606PRO	Thrombotic thrombocytopenic purpura congenital (TTP)
dbSNP	rs28503257	Polymorphism	p.ALA1033THR	N/A
Swiss-Prot	VAR_027116	Disease	p.ALA250VAL	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067785	Disease	p.ALA596VAL	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027128	Polymorphism	p.ALA732VAL	N/A
dbSNP	rs685523	Polymorphism	p.ALA900VAL	N/A
Swiss-Prot	VAR_027112	Disease	p.ARG102CYS	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027136	Disease	p.ARG1123CYS	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067781	Disease	p.ARG349CYS	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027127	Disease	p.ARG692CYS	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067783	Disease	p.ARG507GLN	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027123	Disease	p.ARG528GLY	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027119	Disease	p.ARG398HIS	Thrombotic thrombocytopenic purpura congenital (TTP)
dbSNP	rs36090624	Polymorphism	p.ARG625HIS	N/A
Swiss-Prot	VAR_027117	Disease	p.ARG268PRO	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067792	Disease	p.ARG1060TRP	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027135	Polymorphism	p.ARG1095TRP	N/A
Swiss-Prot	VAR_067793	Disease	p.ARG1219TRP	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027139	Disease	p.ARG1336TRP	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027113	Disease	p.ARG193TRP	Thrombotic thrombocytopenic purpura congenital (TTP)
dbSNP	rs34024143	Polymorphism	p.ARG7TRP	N/A
Swiss-Prot	VAR_067775	Disease	p.ASP235HIS	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067789	Disease	p.CYS758ARG	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027133	Disease	p.CYS1024GLY	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027132	Disease	p.CYS951GLY	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067780	Disease	p.CYS347SER	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067790	Disease	p.CYS908SER	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027137	Disease	p.CYS1213TYR	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067778	Disease	p.CYS311TYR	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027122	Disease	p.CYS508TYR	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027131	Disease	p.CYS908TYR	Thrombotic thrombocytopenic purpura congenital (TTP)
dbSNP	rs2301612	Polymorphism	p.GLN448GLU	N/A
Swiss-Prot	VAR_027162	Polymorphism	p.GLN456HIS	N/A
Swiss-Prot	VAR_027164	Polymorphism	p.GLU740LYS	N/A
Swiss-Prot	VAR_027165	Polymorphism	p.GLY982ARG	N/A
Swiss-Prot	VAR_067784	Disease	p.GLY525ASP	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027138	Disease	p.GLY1239VAL	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027111	Disease	p.HIS96ASP	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027115	Disease	p.HIS234GLN	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067770	Disease	p.ILE79MET	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027126	Disease	p.ILE673PHE	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067772	Disease	p.ILE178THR	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067774	Disease	p.LEU232GLN	Thrombotic thrombocytopenic purpura congenital (TTP)
dbSNP	rs28647808	Polymorphism	p.PRO618ALA	N/A
Swiss-Prot	VAR_067782	Disease	p.PRO353LEU	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027163	Polymorphism	p.PRO457LEU	N/A
Swiss-Prot	VAR_067788	Disease	p.PRO671LEU	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027121	Polymorphism	p.PRO475SER	N/A
Swiss-Prot	VAR_067776	Disease	p.SER263CYS	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067794	Polymorphism	p.SER1314LEU	N/A
Swiss-Prot	VAR_027130	Polymorphism	p.SER903LEU	N/A
Swiss-Prot	VAR_067771	Disease	p.SER119PHE	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067773	Disease	p.SER203PRO	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067779	Polymorphism	p.THR339ARG	N/A
Swiss-Prot	VAR_027166	Polymorphism	p.THR1226ILE	N/A
Swiss-Prot	VAR_027114	Disease	p.THR196ILE	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027118	Disease	p.TRP390CYS	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067777	Disease	p.TYR304CYS	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_067787	Disease	p.TYR658CYS	Thrombotic thrombocytopenic purpura congenital (TTP)
Swiss-Prot	VAR_027110	Disease	p.VAL88MET	Thrombotic thrombocytopenic purpura congenital (TTP)
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.CYS1213TYR	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

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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