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Results for the Protein: P06681
3915642
717
C2

CO2_HUMAN RecName: Full=Complement C2; AltName: Full=C3/C5 convertase; Contains: RecName: Full=Complement C2b fragment; Contains: RecName: Full=Complement C2a fragment; Flags: Precursor

Known Diseases associated with this Protein:
  C2 DEFICIENCY, TYPE II
  COMPLEMENT COMPONENT 2 DEFICIENCY (C2D)
  MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF
6
3
3
2
4
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Default View:

CCP - smart00032
VWA - smart00327
Tryp_SPc - smart00020


Swiss-Prot Protein: P06681
Identical to: NP_000054
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CCPsmart000321.7e-1689144
CCPsmart000323.5e-15151204
VWAsmart003275.1e-35252457
Tryp_SPcsmart000205.9e-36461722

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4151648 Polymorphismp.ARG734CYSN/A
Swiss-ProtVAR_008544Diseasep.CYS131TYRComplement component 2 deficiency (C2D)
dbSNPrs9332739 Polymorphismp.GLU318ASPN/A
Swiss-ProtVAR_008546Diseasep.GLY464ARGComplement component 2 deficiency (C2D)
Swiss-ProtVAR_011772Polymorphismp.PHE533LEUN/A
Swiss-ProtVAR_008545Diseasep.SER209PHEComplement component 2 deficiency (C2D)
OMIM613927.0004 Diseasep.GLU318ASPMACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF
OMIM613927.0003 Diseasep.GLY444ARGC2 DEFICIENCY, TYPE II
OMIM613927.0002 Diseasep.SER189PHEC2 DEFICIENCY, TYPE II



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