Results for the protein: Q9Y2V7

Results for the Protein: Q9Y2V7

182676410

57511

COG6

NCBI, UniProt

COG6_HUMAN RecName: Full=Conserved oligomeric Golgi complex subunit 6; Short=COG complex subunit 6; AltName: Full=Component of oligomeric Golgi complex 6

Known Diseases associated with this Protein:
CONGENITAL DISORDER OF GLYCOSYLATION 2L (CDG2L)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL

2

5

1

5

1

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: COG6 - pfam06419	Swiss-Prot Protein: Q9Y2V7 Identical to: NP_065802 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 ↕
dbSNP	rs3812882	Polymorphism	p.ALA10THR	N/A
dbSNP	rs3812883	Polymorphism	p.CYS32SER	N/A
Swiss-Prot	VAR_068240	Disease	p.GLY549VAL	Congenital disorder of glycosylation 2L (CDG2L)
dbSNP	rs34555836	Polymorphism	p.HIS300TYR	N/A
dbSNP	rs114044193	Polymorphism	p.LEU655ILE	N/A
dbSNP	rs41286961	Polymorphism	p.MET447THR	N/A
OMIM	606977.0001	Disease	p.GLY549VAL	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258