Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P35914
24418852

HMGCL_HUMAN RecName: Full=Hydroxymethylglutaryl-CoA lyase, mitochondrial; Short=HL; Short=HMG-CoA lyase; AltName: Full=3-hydroxy-3-methylglutarate-CoA lyase; Flags: Precursor

Known Diseases associated with this Protein:
  3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY (HMGCLD)
  HMG-COA LYASE DEFICIENCY
22
0
3
0
19
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:

LeuA - COG0119
DRE_TIM_HCS - cd07948
DRE_TIM_HOA - cd07943
DRE_TIM_HMGL - cd07938
DRE_TIM_PC_TC_5S - cd07937
DRE_TIM_metallolyase - cd03174
DRE_TIM_Re_CS - cd07947
DRE_TIM_CMS - cd07945
DRE_TIM_NifV - cd07939
DRE_TIM_IPMS - cd07940


Swiss-Prot Protein: P35914
Identical to: NP_000182
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LeuACOG01192.1e-3231325
DRE_TIM_HOAcd079434.4e-0733311
DRE_TIM_HCScd079485.1e-0533308
DRE_TIM_PC_TC_5Scd079372.8e-0635316
DRE_TIM_HMGLcd079385.8e-19335308
DRE_TIM_metallolyasecd031745.8e-13636308
DRE_TIM_CMScd079450.0001141315
DRE_TIM_Re_CScd079472.7e-0541308
DRE_TIM_NifVcd079394.6e-0550309
DRE_TIM_IPMScd079405.8e-0952308

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065453Diseasep.ARG165GLN3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_003744Diseasep.ARG41GLN3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058449Diseasep.ASP204ASN3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_003745Diseasep.ASP42GLU3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_003746Diseasep.ASP42GLY3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_003747Diseasep.ASP42HIS3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058444Diseasep.CYS174TYR3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_014202Diseasep.GLU279LYS3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058440Diseasep.GLU37LYS3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058448Diseasep.GLY203GLU3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_003749Diseasep.HIS233ARG3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058446Diseasep.ILE200PHE3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058450Diseasep.LEU263PRO3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058441Diseasep.LYS48ASN3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058445Diseasep.PHE192SER3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058442Diseasep.SER75ARG3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058443Diseasep.SER142PHE3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_058447Diseasep.SER201TYR3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-ProtVAR_003748Diseasep.VAL70LEU3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
OMIM613898.0004 Diseasep.ARG41GLNHMG-CoA LYASE DEFICIENCY
OMIM613898.0005 Diseasep.GLU279LYSHMG-CoA LYASE DEFICIENCY
OMIM613898.0002 Diseasep.VAL70LEUHMG-CoA LYASE DEFICIENCY



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