Results for the protein: Q9NVA1

Results for the Protein: Q9NVA1

306526265

55245

UQCC1

NCBI, UniProt

UQCC1_HUMAN RecName: Full=Ubiquinol-cytochrome-c reductase complex assembly factor 1; AltName: Full=Basic FGF-repressed Zic-binding protein; Short=bFGF-repressed Zic-binding protein; Short=bFZb; AltName: Full=Ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog

			0 5 0 2 3

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: COG5452 - COG5452 Ubiq_cyt_C_chap - pfam03981	Swiss-Prot Protein: Q9NVA1 Identical to: NP_060714 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ubiq_cyt_C_chap	pfam03981	1.8e-53	135	277

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4911494	Polymorphism	p.ARG51GLN	N/A
dbSNP	rs78363605	Polymorphism	p.SER13GLY	N/A
Swiss-Prot	VAR_028047	Polymorphism	p.ARG51GLN	N/A
Swiss-Prot	VAR_028048	Polymorphism	p.PRO85LEU	N/A
Swiss-Prot	VAR_036612	Polymorphism	p.TRP44SER	N/A

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