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Results for the Protein: NP_001159531
260654708

hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  HMG-COA LYASE DEFICIENCY
3
0
3
0
0
Tips:
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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
HMGL-like - pfam00682
DRE_TIM_NifV - cd07939
DRE_TIM_IPMS - cd07940




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DRE_TIM_HOAcd079434.8e-0633240
DRE_TIM_HCScd079480.0002233237
DRE_TIM_PC_TC_5Scd079371.9e-0535245
DRE_TIM_HMGLcd079382e-10835237
DRE_TIM_metallolyasecd031741.5e-6836237
DRE_TIM_NifVcd079390.0001450238
DRE_TIM_IPMScd079404.8e-0752237
HMGL-likepfam006821.3e-5541218

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM613898.0004 Diseasep.ARG41GLNHMG-CoA LYASE DEFICIENCY
OMIM613898.0005 Diseasep.GLU208LYSHMG-CoA LYASE DEFICIENCY
OMIM613898.0002 Diseasep.VAL70LEUHMG-CoA LYASE DEFICIENCY



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