Results for the protein: P13804

Results for the Protein: P13804

119636

2108

ETFA

NCBI, UniProt

ETFA_HUMAN RecName: Full=Electron transfer flavoprotein subunit alpha, mitochondrial; Short=Alpha-ETF; Flags: Precursor

Known Diseases associated with this Protein:
GLUTARIC ACIDEMIA IIA
GLUTARIC ACIDURIA 2A (GA2A)

6

1

3

1

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:	Swiss-Prot Protein: P13804 Identical to: NP_000117 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_002366	Disease	p.GLY116ARG	Glutaric aciduria 2A (GA2A)
dbSNP	rs1801591	Polymorphism	p.THR171ILE	N/A
Swiss-Prot	VAR_002368	Disease	p.THR266MET	Glutaric aciduria 2A (GA2A)
Swiss-Prot	VAR_002367	Disease	p.VAL157GLY	Glutaric aciduria 2A (GA2A)
OMIM	608053.0003	Disease	p.GLY116ARG	GLUTARIC ACIDEMIA IIA
OMIM	608053.0002	Disease	p.THR266MET	GLUTARIC ACIDEMIA IIA
OMIM	608053.0001	Disease	p.VAL157GLY	GLUTARIC ACIDEMIA IIA

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