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Results for the Protein: Q9NZ01
20177939

TECR_HUMAN RecName: Full=Very-long-chain enoyl-CoA reductase; AltName: Full=Synaptic glycoprotein SC2; AltName: Full=Trans-2,3-enoyl-CoA reductase; Short=TER

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14
  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (MRT14)
2
0
1
0
1
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Default View:

Tsc13_N - cd01801
UBL - cd01769
Steroid_dh - pfam02544


Swiss-Prot Protein: Q9NZ01
Identical to: NP_612510
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Tsc13_Ncd018012.6e-44681
UBLcd017690.000131081
Steroid_dhpfam025441.8e-28154308

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065918Diseasep.PRO182LEUMental retardation, autosomal recessive 14 (MRT14)
OMIM610057.0001 Diseasep.PRO182LEUMENTAL RETARDATION, AUTOSOMAL RECESSIVE 14



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