Results for the protein: Q99741

Results for the Protein: Q99741

50400620

990

CDC6

NCBI, UniProt

CDC6_HUMAN RecName: Full=Cell division control protein 6 homolog; AltName: Full=CDC6-related protein; AltName: Full=Cdc18-related protein; Short=HsCdc18; AltName: Full=p62(cdc6); Short=HsCDC6

Known Diseases associated with this Protein:
MEIER-GORLIN SYNDROME 5
MEIER-GORLIN SYNDROME 5 (MGORS5)

2

5

1

2

4

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: CDC6 - COG1474 AAA - cd00009 AAA - smart00382 AAA - pfam00004 Cdc6_C - cd08768 Cdc6_C - pfam09079	Swiss-Prot Protein: Q99741 Identical to: NP_001245 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AAA	cd00009	3.5e-14	177	345
Cdc6_C	cd08768	3.6e-18	458	541
AAA	pfam00004	8.9e-08	198	339
AAA	smart00382	0.00019	194	337
Cdc6_C	pfam09079	1.5e-15	465	545

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019352	Polymorphism	p.ARG378HIS	N/A
Swiss-Prot	VAR_019350	Polymorphism	p.ASP295ASN	N/A
Swiss-Prot	VAR_019349	Polymorphism	p.THR238ALA	N/A
Swiss-Prot	VAR_065493	Disease	p.THR323ARG	Meier-Gorlin syndrome 5 (MGORS5)
dbSNP	rs4135013	Polymorphism	p.THR299MET	N/A
dbSNP	rs13706	Polymorphism	p.VAL441ILE	N/A
OMIM	602627.0001	Disease	p.THR323ARG	MEIER-GORLIN 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.

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