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Results for the Protein: Q13825
37076898
549
AUH

AUHM_HUMAN RecName: Full=Methylglutaconyl-CoA hydratase, mitochondrial; AltName: Full=AU-specific RNA-binding enoyl-CoA hydratase; Short=AU-binding protein/enoyl-CoA hydratase; Flags: Precursor

Known Diseases associated with this Protein:
  3-@METHYLGLUTACONIC ACIDURIA, TYPE I
  3-METHYLGLUTACONIC ACIDURIA 1 (MGA1)
5
0
4
0
1
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Default View:

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


Swiss-Prot Protein: Q13825
Identical to: NP_001689
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MenBCOG04471.4e-1064337
CaiDCOG10247.4e-8474336
crotonase-likecd065581.9e-6977278
ECHpfam003787.1e-5390259

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_016911Diseasep.ALA240VAL3-methylglutaconic aciduria 1 (MGA1)
OMIM600529.0001 Diseasep.ARG197TER3-@METHYLGLUTACONIC ACIDURIA, TYPE I
OMIM600529.0007 Diseasep.GLY217ASP3-@METHYLGLUTACONIC ACIDURIA, TYPE I
OMIM600529.0006 Diseasep.GLY187SER3-@METHYLGLUTACONIC ACIDURIA, TYPE I
OMIM600529.0008 Diseasep.LYS331TER3-@METHYLGLUTACONIC ACIDURIA, TYPE I



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