Results for the protein: P02748

Results for the Protein: P02748

1352108

735

C9

NCBI, UniProt

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 ↕
LDLa	smart00192	2.5e-11	100	131
MACPF	smart00457	1.2e-78	294	503

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs700233	Polymorphism	p.ARG5TRP	N/A
Swiss-Prot	VAR_050481	Polymorphism	p.ASP127TYR	N/A
Swiss-Prot	VAR_012648	Disease	p.CYS119GLY	Complement component 9 deficiency (C9D)
dbSNP	rs13361416	Polymorphism	p.ILE203VAL	N/A
dbSNP	rs34421659	Polymorphism	p.SER427THR	N/A
Swiss-Prot	VAR_033802	Polymorphism	p.THR279SER	N/A
OMIM	120940.0001	Disease	p.ARG95TER	C9 DEFICIENCY
OMIM	120940.0003	Disease	p.CYS98GLY	C9 DEFICIENCY
OMIM	120940.0002	Disease	p.CYS33TER	C9 DEFICIENCY
OMIM	120940.0005	Disease	p.CYS507TYR	C9 DEFICIENCY
OMIM	120940.0006	Disease	p.PRO167SER	MACULAR DEGENERATION, AGE-RELATED, 15, SUSCEPTIBILITY TO
OMIM	120940.0004	Disease	p.SER406TER	C9 DEFICIENCY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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