Results for the protein: Q2NKJ3

Results for the Protein: Q2NKJ3

292495002

80169

CTC1

NCBI, UniProt

CTC1_HUMAN RecName: Full=CST complex subunit CTC1; AltName: Full=Conserved telomere maintenance component 1; AltName: Full=HBV DNAPTP1-transactivated protein B

Known Diseases associated with this Protein:
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (CRMCC)

18

2

9

2

9

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Default View:	Swiss-Prot Protein: Q2NKJ3 Identical to: NP_079375 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_067369	Disease	p.ALA227VAL	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
Swiss-Prot	VAR_067375	Disease	p.ARG975GLY	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
Swiss-Prot	VAR_067373	Disease	p.ARG840TRP	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
Swiss-Prot	VAR_067377	Disease	p.ARG987TRP	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
Swiss-Prot	VAR_067371	Disease	p.GLY503ARG	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
dbSNP	rs3826543	Polymorphism	p.ILE1005VAL	N/A
dbSNP	rs3027238	Polymorphism	p.ILE820VAL	N/A
Swiss-Prot	VAR_067378	Disease	p.LEU1142HIS	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
Swiss-Prot	VAR_067372	Disease	p.VAL665GLY	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
Swiss-Prot	VAR_067370	Disease	p.VAL259MET	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
Swiss-Prot	VAR_067374	Disease	p.VAL871MET	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
OMIM	613129.0010	Disease	p.ALA227VAL	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
OMIM	613129.0009	Disease	p.ARG1195TER	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
OMIM	613129.0013	Disease	p.ARG287TER	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
OMIM	613129.0005	Disease	p.ARG840TRP	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
OMIM	613129.0002	Disease	p.ARG987TRP	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
OMIM	613129.0008	Disease	p.LEU1142HIS	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
OMIM	613129.0006	Disease	p.VAL665GLY	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
OMIM	613129.0004	Disease	p.VAL259MET	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
OMIM	613129.0003	Disease	p.VAL871MET	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS

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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