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Results for the Protein: P01009
1703025

A1AT_HUMAN RecName: Full=Alpha-1-antitrypsin; AltName: Full=Alpha-1 protease inhibitor; AltName: Full=Alpha-1-antiproteinase; AltName: Full=Serpin A1; Contains: RecName: Full=Short peptide from AAT; Short=SPAAT; Flags: Precursor
0
35
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4
31
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SERPINsmart000934.9e-20759415

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007002Polymorphismp.ALA360THRN/A
Swiss-ProtVAR_006980Polymorphismp.ALA58THRN/A
Swiss-ProtVAR_006986Polymorphismp.ALA84THRN/A
Swiss-ProtVAR_006998Polymorphismp.ARG247CYSN/A
Swiss-ProtVAR_006981Polymorphismp.ARG63CYSN/A
dbSNPrs709932 Polymorphismp.ARG125HISN/A
Swiss-ProtVAR_006979Polymorphismp.ASP26ALAN/A
Swiss-ProtVAR_007003Polymorphismp.ASP365ASNN/A
Swiss-ProtVAR_006999Polymorphismp.ASP280VALN/A
Swiss-ProtVAR_006995Polymorphismp.GLN180GLUN/A
dbSNPrs1303 Polymorphismp.GLU400ASPN/A
Swiss-ProtVAR_006996Polymorphismp.GLU228LYSN/A
Swiss-ProtVAR_007004Polymorphismp.GLU366LYSN/A
Swiss-ProtVAR_007008Polymorphismp.GLU387LYSN/A
dbSNPrs17580 Polymorphismp.GLU288VALN/A
Swiss-ProtVAR_006993Polymorphismp.GLY172ARGN/A
Swiss-ProtVAR_006987Polymorphismp.GLY91GLUN/A
Swiss-ProtVAR_006992Polymorphismp.GLY139SERN/A
Swiss-ProtVAR_006994Polymorphismp.GLY172TRPN/A
Swiss-ProtVAR_006990Polymorphismp.ILE116ASNN/A
Swiss-ProtVAR_006982Polymorphismp.LEU65PRON/A
Swiss-ProtVAR_007005Polymorphismp.MET382ARGN/A
Swiss-ProtVAR_007006Polymorphismp.PRO386HISN/A
Swiss-ProtVAR_007011Polymorphismp.PRO415HISN/A
Swiss-ProtVAR_007009Polymorphismp.PRO393LEUN/A
Swiss-ProtVAR_006989Polymorphismp.PRO112THRN/A
Swiss-ProtVAR_007007Polymorphismp.PRO386THRN/A
Swiss-ProtVAR_006978Polymorphismp.SER4LEUN/A
Swiss-ProtVAR_007001Polymorphismp.SER354PHEN/A
Swiss-ProtVAR_006983Polymorphismp.SER69PHEN/A
Swiss-ProtVAR_006985Polymorphismp.SER77PHEN/A
Swiss-ProtVAR_051938Polymorphismp.THR37ALAN/A
Swiss-ProtVAR_006988Polymorphismp.THR92ILEN/A
Swiss-ProtVAR_011620Polymorphismp.THR109METN/A
dbSNPrs6647 Polymorphismp.VAL237ALAN/A



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