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Results for the Protein: P05155
124096
710

IC1_HUMAN RecName: Full=Plasma protease C1 inhibitor; Short=C1 Inh; Short=C1Inh; AltName: Full=C1 esterase inhibitor; AltName: Full=C1-inhibiting factor; AltName: Full=Serpin G1; Flags: Precursor

Known Diseases associated with this Protein:
  HEREDITARY ANGIOEDEMA (HAE)
36
5
0
0
41
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SERPIN - smart00093


Swiss-Prot Protein: P05155
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007015Diseasep.ALA456GLUHereditary angioedema (HAE)
Swiss-ProtVAR_007016Diseasep.ALA458THRHereditary angioedema (HAE)
Swiss-ProtVAR_007017Diseasep.ALA458VALHereditary angioedema (HAE)
Swiss-ProtVAR_007018Diseasep.ALA465VALHereditary angioedema (HAE)
Swiss-ProtVAR_007019Diseasep.ARG466CYSHereditary angioedema (HAE)
Swiss-ProtVAR_007020Diseasep.ARG466HISHereditary angioedema (HAE)
Swiss-ProtVAR_007021Diseasep.ARG466LEUHereditary angioedema (HAE)
Swiss-ProtVAR_007022Diseasep.ARG466SERHereditary angioedema (HAE)
Swiss-ProtVAR_027374Polymorphismp.ASP39GLUN/A
Swiss-ProtVAR_068844Diseasep.ASP497GLYHereditary angioedema (HAE)
Swiss-ProtVAR_027381Diseasep.ASP408VALHereditary angioedema (HAE)
Swiss-ProtVAR_027379Diseasep.CYS130TYRHereditary angioedema (HAE)
Swiss-ProtVAR_007025Polymorphismp.GLN474GLUN/A
Swiss-ProtVAR_068835Diseasep.GLY184ARGHereditary angioedema (HAE)
Swiss-ProtVAR_027376Diseasep.GLY345ARGHereditary angioedema (HAE)
Swiss-ProtVAR_007013Diseasep.GLY429ARGHereditary angioedema (HAE)
Swiss-ProtVAR_027383Diseasep.GLY493GLUHereditary angioedema (HAE)
Swiss-ProtVAR_068837Diseasep.ILE232LYSHereditary angioedema (HAE)
Swiss-ProtVAR_007029Diseasep.LEU481ARGHereditary angioedema (HAE)
Swiss-ProtVAR_068840Diseasep.LEU430GLNHereditary angioedema (HAE)
Swiss-ProtVAR_068836Diseasep.LEU230PROHereditary angioedema (HAE)
Swiss-ProtVAR_068842Diseasep.LEU447PROHereditary angioedema (HAE)
Swiss-ProtVAR_007028Diseasep.LEU481PROHereditary angioedema (HAE)
Swiss-ProtVAR_068841Diseasep.MET441THRHereditary angioedema (HAE)
Swiss-ProtVAR_007026Diseasep.PHE477SERHereditary angioedema (HAE)
Swiss-ProtVAR_007030Diseasep.PRO489ARGHereditary angioedema (HAE)
Swiss-ProtVAR_027384Diseasep.PRO498ARGHereditary angioedema (HAE)
Swiss-ProtVAR_007031Diseasep.PRO498SERHereditary angioedema (HAE)
Swiss-ProtVAR_068834Diseasep.SER170PHEHereditary angioedema (HAE)
Swiss-ProtVAR_068832Diseasep.THR118ALAHereditary angioedema (HAE)
Swiss-ProtVAR_027380Diseasep.THR394PROHereditary angioedema (HAE)
Swiss-ProtVAR_007023Diseasep.THR467PROHereditary angioedema (HAE)
Swiss-ProtVAR_011751Polymorphismp.THR308SERN/A
Swiss-ProtVAR_068839Diseasep.TRP299ARGHereditary angioedema (HAE)
Swiss-ProtVAR_068833Diseasep.TYR154CYSHereditary angioedema (HAE)
Swiss-ProtVAR_027375Polymorphismp.VAL56ALAN/A
Swiss-ProtVAR_007014Diseasep.VAL454GLUHereditary angioedema (HAE)
Swiss-ProtVAR_027382Diseasep.VAL473GLUHereditary angioedema (HAE)
Swiss-ProtVAR_068843Diseasep.VAL473GLYHereditary angioedema (HAE)
Swiss-ProtVAR_007024Diseasep.VAL473METHereditary angioedema (HAE)
Swiss-ProtVAR_007027Polymorphismp.VAL480METN/A



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