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Results for the Protein: Q96HY7
296434477

DHTK1_HUMAN RecName: Full=Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial; AltName: Full=Dehydrogenase E1 and transketolase domain-containing protein 1; Flags: Precursor

Known Diseases associated with this Protein:
  2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (AMOXAD)
1
5
0
0
6
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Default View:

SucA - COG0567
TPP_E1_PDC_ADC_BCADC - cd02000
TPP_E1_OGDC_like - cd02016
E1_dh - pfam00676
Transket_pyr - pfam02779
Transket_pyr - smart00861


Swiss-Prot Protein: Q96HY7
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SucACOG05672.5e-2761919
TPP_E1_PDC_ADC_BCADCcd020008.1e-05166495
TPP_E1_OGDC_likecd020162e-188176449
E1_dhpfam006761.4e-24193504
Transket_pyrpfam027793.9e-69567773
Transket_pyrsmart008611e-63570812

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036717Polymorphismp.ARG308LEUN/A
Swiss-ProtVAR_036718Polymorphismp.ASN350ASPN/A
Swiss-ProtVAR_069585Diseasep.GLY729ARG2-aminoadipic 2-oxoadipic aciduria (AMOXAD)
Swiss-ProtVAR_036719Polymorphismp.ILE607METN/A
Swiss-ProtVAR_036715Polymorphismp.PHE20LEUN/A
Swiss-ProtVAR_036716Polymorphismp.TYR272ASPN/A



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