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Results for the Protein: P02748
1352108
735
C9

CO9_HUMAN RecName: Full=Complement component C9; Contains: RecName: Full=Complement component C9a; Contains: RecName: Full=Complement component C9b; Flags: Precursor

Known Diseases associated with this Protein:
  C9 DEFICIENCY
  COMPLEMENT COMPONENT 9 DEFICIENCY (C9D)
  MACULAR DEGENERATION, AGE-RELATED, 15, SUSCEPTIBILITY TO
7
5
6
3
3
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Default View:

TSP1 - smart00209
LDLa - smart00192
MACPF - smart00457


Swiss-Prot Protein: P02748
Identical to: NP_001728
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TSP1smart002099.5e-064595
LDLasmart001922.5e-11100131
MACPFsmart004571.2e-78294503

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs700233 Polymorphismp.ARG5TRPN/A
Swiss-ProtVAR_050481Polymorphismp.ASP127TYRN/A
Swiss-ProtVAR_012648Diseasep.CYS119GLYComplement component 9 deficiency (C9D)
dbSNPrs13361416 Polymorphismp.ILE203VALN/A
dbSNPrs34421659 Polymorphismp.SER427THRN/A
Swiss-ProtVAR_033802Polymorphismp.THR279SERN/A
OMIM120940.0001 Diseasep.ARG95TERC9 DEFICIENCY
OMIM120940.0003 Diseasep.CYS98GLYC9 DEFICIENCY
OMIM120940.0002 Diseasep.CYS33TERC9 DEFICIENCY
OMIM120940.0005 Diseasep.CYS507TYRC9 DEFICIENCY
OMIM120940.0006 Diseasep.PRO167SERMACULAR DEGENERATION, AGE-RELATED, 15, SUSCEPTIBILITY TO
OMIM120940.0004 Diseasep.SER406TERC9 DEFICIENCY



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