Results for the protein: Q4G176

Results for the Protein: Q4G176

296439438

197322

ACSF3

NCBI, UniProt

ACSF3_HUMAN RecName: Full=Acyl-CoA synthetase family member 3, mitochondrial; Flags: Precursor

Known Diseases associated with this Protein:
COMBINED MALONIC AND METHYLMALONIC ACIDURIA
COMBINED MALONIC AND METHYLMALONIC ACIDURIA (CMAMMA)

17

7

8

4

12

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: EntE - COG1021 FAA1 - COG1022 Acs - COG0365 CaiC - COG0318 AMP-binding - pfam00501	Swiss-Prot Protein: Q4G176 Identical to: NP_001230208, NP_001120686, NP_777577 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FAA1	COG1022	2.6e-15	28	563
Acs	COG0365	3.9e-37	33	576
CaiC	COG0318	2e-125	35	576
AMP-binding	pfam00501	4.9e-83	67	504

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_038307	Polymorphism	p.ALA17PRO	N/A
Swiss-Prot	VAR_066510	Disease	p.ARG471GLN	Combined malonic and methylmalonic aciduria (CMAMMA)
dbSNP	rs75591977	Polymorphism	p.ARG332SER	N/A
Swiss-Prot	VAR_066511	Disease	p.ARG471TRP	Combined malonic and methylmalonic aciduria (CMAMMA)
Swiss-Prot	VAR_066513	Disease	p.ARG558TRP	Combined malonic and methylmalonic aciduria (CMAMMA)
Swiss-Prot	VAR_066507	Disease	p.GLU359LYS	Combined malonic and methylmalonic aciduria (CMAMMA)
dbSNP	rs3743979	Polymorphism	p.GLU372LYS	N/A
Swiss-Prot	VAR_066512	Disease	p.GLY480SER	Combined malonic and methylmalonic aciduria (CMAMMA)
Swiss-Prot	VAR_038306	Polymorphism	p.LEU2PRO	N/A
Swiss-Prot	VAR_066508	Disease	p.LYS462THR	Combined malonic and methylmalonic aciduria (CMAMMA)
Swiss-Prot	VAR_066504	Disease	p.MET198ARG	Combined malonic and methylmalonic aciduria (CMAMMA)
Swiss-Prot	VAR_066505	Disease	p.PRO243LEU	Combined malonic and methylmalonic aciduria (CMAMMA)
dbSNP	rs6500529	Polymorphism	p.SER123ARG	N/A
Swiss-Prot	VAR_066506	Disease	p.THR358ILE	Combined malonic and methylmalonic aciduria (CMAMMA)
dbSNP	rs11547019	Polymorphism	p.VAL17LEU	N/A
Swiss-Prot	VAR_038308	Polymorphism	p.VAL372MET	N/A
OMIM	614245.0005	Disease	p.ARG471GLN	COMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM	614245.0002	Disease	p.ARG523TER	COMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM	614245.0004	Disease	p.ARG471TRP	COMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM	614245.0001	Disease	p.ARG558TRP	COMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM	614245.0003	Disease	p.GLU359LYS	COMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM	614245.0008	Disease	p.MET198ARG	COMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM	614245.0007	Disease	p.PRO243LEU	COMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM	614245.0006	Disease	p.THR358ILE	COMBINED MALONIC AND METHYLMALONIC ACIDURIA

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