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Results for the Protein: Q76LX8
74749836

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
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17
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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 ↕
ZnMccd002037.2e-0580274
ZnMc_ADAM_likecd042671.7e-1280275
ZnMc_adamalysin_II_lcd042695.2e-0780284
ZnMc_salivary_gland_cd042722.5e-0880283
ZnMc_ADAMTS_likecd042739.2e-10380283
Reprolysinpfam014211.3e-0880286
TSP_1pfam000904.7e-12388438
ACRsmart006089.4e-05293374
TSP1smart002091.2e-15387439

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067786Diseasep.ALA606PROThrombotic thrombocytopenic purpura congenital (TTP)
dbSNPrs28503257 Polymorphismp.ALA1033THRN/A
Swiss-ProtVAR_027116Diseasep.ALA250VALThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067785Diseasep.ALA596VALThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027128Polymorphismp.ALA732VALN/A
dbSNPrs685523 Polymorphismp.ALA900VALN/A
Swiss-ProtVAR_027112Diseasep.ARG102CYSThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027136Diseasep.ARG1123CYSThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067781Diseasep.ARG349CYSThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027127Diseasep.ARG692CYSThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067783Diseasep.ARG507GLNThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027123Diseasep.ARG528GLYThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027119Diseasep.ARG398HISThrombotic thrombocytopenic purpura congenital (TTP)
dbSNPrs36090624 Polymorphismp.ARG625HISN/A
Swiss-ProtVAR_027117Diseasep.ARG268PROThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067792Diseasep.ARG1060TRPThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027135Polymorphismp.ARG1095TRPN/A
Swiss-ProtVAR_067793Diseasep.ARG1219TRPThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027139Diseasep.ARG1336TRPThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027113Diseasep.ARG193TRPThrombotic thrombocytopenic purpura congenital (TTP)
dbSNPrs34024143 Polymorphismp.ARG7TRPN/A
Swiss-ProtVAR_067775Diseasep.ASP235HISThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067789Diseasep.CYS758ARGThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027133Diseasep.CYS1024GLYThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027132Diseasep.CYS951GLYThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067780Diseasep.CYS347SERThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067790Diseasep.CYS908SERThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027137Diseasep.CYS1213TYRThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067778Diseasep.CYS311TYRThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027122Diseasep.CYS508TYRThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027131Diseasep.CYS908TYRThrombotic thrombocytopenic purpura congenital (TTP)
dbSNPrs2301612 Polymorphismp.GLN448GLUN/A
Swiss-ProtVAR_027162Polymorphismp.GLN456HISN/A
Swiss-ProtVAR_027164Polymorphismp.GLU740LYSN/A
Swiss-ProtVAR_027165Polymorphismp.GLY982ARGN/A
Swiss-ProtVAR_067784Diseasep.GLY525ASPThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027138Diseasep.GLY1239VALThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027111Diseasep.HIS96ASPThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027115Diseasep.HIS234GLNThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067770Diseasep.ILE79METThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027126Diseasep.ILE673PHEThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067772Diseasep.ILE178THRThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067774Diseasep.LEU232GLNThrombotic thrombocytopenic purpura congenital (TTP)
dbSNPrs28647808 Polymorphismp.PRO618ALAN/A
Swiss-ProtVAR_067782Diseasep.PRO353LEUThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027163Polymorphismp.PRO457LEUN/A
Swiss-ProtVAR_067788Diseasep.PRO671LEUThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027121Polymorphismp.PRO475SERN/A
Swiss-ProtVAR_067776Diseasep.SER263CYSThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067794Polymorphismp.SER1314LEUN/A
Swiss-ProtVAR_027130Polymorphismp.SER903LEUN/A
Swiss-ProtVAR_067771Diseasep.SER119PHEThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067773Diseasep.SER203PROThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067779Polymorphismp.THR339ARGN/A
Swiss-ProtVAR_027166Polymorphismp.THR1226ILEN/A
Swiss-ProtVAR_027114Diseasep.THR196ILEThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027118Diseasep.TRP390CYSThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067777Diseasep.TYR304CYSThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_067787Diseasep.TYR658CYSThrombotic thrombocytopenic purpura congenital (TTP)
Swiss-ProtVAR_027110Diseasep.VAL88METThrombotic thrombocytopenic purpura congenital (TTP)
OMIM604134.0020 Diseasep.ALA250VALTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0003 Diseasep.ARG102CYSTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0011 Diseasep.ARG692CYSTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0007 Diseasep.ARG528GLYTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0005 Diseasep.ARG398HISTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0014 Diseasep.ARG268PROTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0006 Diseasep.CYS1024GLYTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0002 Diseasep.CYS951GLYTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0010 Diseasep.CYS1213TYRTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0015 Diseasep.CYS508TYRTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0015 Diseasep.GLN448GLUTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0013 Diseasep.GLN449TERTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0001 Diseasep.HIS96ASPTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0016 Diseasep.PRO475SERTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
OMIM604134.0004 Diseasep.THR196ILETHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL



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