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Results for the Protein: P05156
317373341
CFI

CFAI_HUMAN RecName: Full=Complement factor I; AltName: Full=C3B/C4B inactivator; Contains: RecName: Full=Complement factor I heavy chain; Contains: RecName: Full=Complement factor I light chain; Flags: Precursor

Known Diseases associated with this Protein:
  COMPLEMENT FACTOR I DEFICIENCY (CFI DEFICIENCY)
  HEMOLYTIC UREMIC SYNDROME ATYPICAL 3 (AHUS3)
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1
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13
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Default View:

FIMAC - smart00057
SR - smart00202
LDLa - smart00192
Tryp_SPc - smart00020


Swiss-Prot Protein: P05156
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FIMACsmart000575.7e-3842108
SRsmart002021.2e-24114215
LDLasmart001924.8e-09220253
LDLasmart001925.3e-10258290
Tryp_SPcsmart000201.1e-83339569

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063669Diseasep.ARG317TRPHemolytic uremic syndrome atypical 3 (AHUS3)
Swiss-ProtVAR_063671Diseasep.ASP519ASNHemolytic uremic syndrome atypical 3 (AHUS3)
Swiss-ProtVAR_030344Diseasep.ASP524VALHemolytic uremic syndrome atypical 3 (AHUS3)
Swiss-ProtVAR_063666Diseasep.GLY119ARGHemolytic uremic syndrome atypical 3 (AHUS3)
Swiss-ProtVAR_063668Diseasep.GLY287ARGHemolytic uremic syndrome atypical 3 (AHUS3)
Swiss-ProtVAR_034907Diseasep.GLY243ASPComplement factor I deficiency (CFI deficiency)
Swiss-ProtVAR_063667Diseasep.HIS183ARGHemolytic uremic syndrome atypical 3 (AHUS3)
Swiss-ProtVAR_026757Diseasep.HIS418LEUComplement factor I deficiency (CFI deficiency)
Swiss-ProtVAR_063670Diseasep.ILE416LEUHemolytic uremic syndrome atypical 3 (AHUS3)
Swiss-ProtVAR_030343Diseasep.ILE340THRHemolytic uremic syndrome atypical 3 (AHUS3)
Swiss-ProtVAR_063672Diseasep.LYS522THRHemolytic uremic syndrome atypical 3 (AHUS3)
Swiss-ProtVAR_063665Diseasep.PRO64LEUHemolytic uremic syndrome atypical 3 (AHUS3)
Swiss-ProtVAR_034908Polymorphismp.THR300ALAN/A



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