Results for the protein: O15078

Results for the Protein: O15078

116241294

80184

CEP290

NCBI, UniProt

CE290_HUMAN RecName: Full=Centrosomal protein of 290 kDa; Short=Cep290; AltName: Full=Bardet-Biedl syndrome 14 protein; AltName: Full=Cancer/testis antigen 87; Short=CT87; AltName: Full=Nephrocystin-6; AltName: Full=Tumor antigen se2-2

Known Diseases associated with this Protein:
  BARDET-BIEDL SYNDROME 14
  JOUBERT SYNDROME 5
  JOUBERT SYNDROME 5 (JBTS5)
  LEBER CONGENITAL AMAUROSIS 10
  LEBER CONGENITAL AMAUROSIS 10, INCLUDED
  MECKEL SYNDROME, TYPE 4
  SENIOR-LOKEN SYNDROME 6 (SLSN6)

8

11

6

4

9

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Default View:	Swiss-Prot Protein: O15078 Identical to: NP_079390 Default View:

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-Prot	VAR_064399	Polymorphism	p.ALA1566PRO	N/A
Swiss-Prot	VAR_066997	Polymorphism	p.ARG2210CYS	N/A
dbSNP	rs7307793	Polymorphism	p.ARG1237HIS	N/A
Swiss-Prot	VAR_064401	Polymorphism	p.ASN2228LYS	N/A
dbSNP	rs79705698	Polymorphism	p.ASP664GLY	N/A
Swiss-Prot	VAR_064397	Polymorphism	p.GLU277GLN	N/A
Swiss-Prot	VAR_068168	Disease	p.GLU534LYS	Joubert syndrome 5 (JBTS5)
Swiss-Prot	VAR_031061	Polymorphism	p.ILE1836VAL	N/A
Swiss-Prot	VAR_064400	Polymorphism	p.LEU1694PRO	N/A
dbSNP	rs7970228	Polymorphism	p.LEU906TRP	N/A
dbSNP	rs11104738	Polymorphism	p.LYS838GLU	N/A
Swiss-Prot	VAR_067192	Polymorphism	p.SER2263GLY	N/A
Swiss-Prot	VAR_028356	Disease	p.TRP7CYS	Senior-Loken syndrome 6 (SLSN6)
OMIM	610142.0010	Disease	p.ARG205TER	MECKEL SYNDROME, TYPE 4
OMIM	610142.0013	Disease	p.GLU1903TER	BARDET-BIEDL SYNDROME 14
OMIM	610142.0001	Disease	p.GLY1890TER	JOUBERT SYNDROME 5
OMIM	610142.0006	Disease	p.LEU750TER	LEBER CONGENITAL AMAUROSIS 10
OMIM	610142.0007	Disease	p.LYS1575TER	JOUBERT SYNDROME 5\|\|LEBER CONGENITAL AMAUROSIS 10, INCLUDED
OMIM	610142.0003	Disease	p.TRP7CYS	JOUBERT SYNDROME 5

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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