Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q4G176
296439438

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EntECOG10211.1e-1227576
FAA1COG10222.6e-1528563
AcsCOG03653.9e-3733576
CaiCCOG03182e-12535576
AMP-bindingpfam005014.9e-8367504

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_038307Polymorphismp.ALA17PRON/A
Swiss-ProtVAR_066510Diseasep.ARG471GLNCombined malonic and methylmalonic aciduria (CMAMMA)
dbSNPrs75591977 Polymorphismp.ARG332SERN/A
Swiss-ProtVAR_066511Diseasep.ARG471TRPCombined malonic and methylmalonic aciduria (CMAMMA)
Swiss-ProtVAR_066513Diseasep.ARG558TRPCombined malonic and methylmalonic aciduria (CMAMMA)
Swiss-ProtVAR_066507Diseasep.GLU359LYSCombined malonic and methylmalonic aciduria (CMAMMA)
dbSNPrs3743979 Polymorphismp.GLU372LYSN/A
Swiss-ProtVAR_066512Diseasep.GLY480SERCombined malonic and methylmalonic aciduria (CMAMMA)
Swiss-ProtVAR_038306Polymorphismp.LEU2PRON/A
Swiss-ProtVAR_066508Diseasep.LYS462THRCombined malonic and methylmalonic aciduria (CMAMMA)
Swiss-ProtVAR_066504Diseasep.MET198ARGCombined malonic and methylmalonic aciduria (CMAMMA)
Swiss-ProtVAR_066505Diseasep.PRO243LEUCombined malonic and methylmalonic aciduria (CMAMMA)
dbSNPrs6500529 Polymorphismp.SER123ARGN/A
Swiss-ProtVAR_066506Diseasep.THR358ILECombined malonic and methylmalonic aciduria (CMAMMA)
dbSNPrs11547019 Polymorphismp.VAL17LEUN/A
Swiss-ProtVAR_038308Polymorphismp.VAL372METN/A
OMIM614245.0005 Diseasep.ARG471GLNCOMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM614245.0002 Diseasep.ARG523TERCOMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM614245.0004 Diseasep.ARG471TRPCOMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM614245.0001 Diseasep.ARG558TRPCOMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM614245.0003 Diseasep.GLU359LYSCOMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM614245.0008 Diseasep.MET198ARGCOMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM614245.0007 Diseasep.PRO243LEUCOMBINED MALONIC AND METHYLMALONIC ACIDURIA
OMIM614245.0006 Diseasep.THR358ILECOMBINED MALONIC AND METHYLMALONIC ACIDURIA



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258