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Results for the Protein: Q6NVY1
146324905

HIBCH_HUMAN RecName: Full=3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; AltName: Full=3-hydroxyisobutyryl-coenzyme A hydrolase; Short=HIB-CoA hydrolase; Short=HIBYL-CoA-H; Flags: Precursor

Known Diseases associated with this Protein:
  3-@HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY
  HIBCH DEFICIENCY (HIBCHD)
2
4
1
4
1
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Default View:

MenB - COG0447
CaiD - COG1024
crotonase-like - cd06558
ECH - pfam00378


Swiss-Prot Protein: Q6NVY1
Identical to: NP_055177
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MenBCOG04470.0003420276
CaiDCOG10245.8e-6532359
crotonase-likecd065581.3e-5538233
ECHpfam003781.2e-1847218

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs74832989 Polymorphismp.CYS163SERN/A
dbSNPrs61752508 Polymorphismp.GLU245ASPN/A
dbSNPrs291466 Polymorphismp.MET1THRN/A
dbSNPrs1058180 Polymorphismp.THR46ALAN/A
Swiss-ProtVAR_031870Diseasep.TYR122CYSHIBCH deficiency (HIBCHD)
OMIM610690.0002 Diseasep.TYR122CYS3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY



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