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Results for the Protein: Q86YH6
73620006

DLP1_HUMAN RecName: Full=Decaprenyl-diphosphate synthase subunit 2; AltName: Full=All-trans-decaprenyl-diphosphate synthase subunit 2; AltName: Full=Candidate tumor suppressor protein; AltName: Full=Decaprenyl pyrophosphate synthase subunit 2

Known Diseases associated with this Protein:
  COENZYME Q10 DEFICIENCY, PRIMARY, 3
  COENZYME Q10 DEFICIENCY, PRIMARY, 3 (COQ10D3)
3
2
2
2
1
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Default View:

IspA - COG0142
Trans_IPPS_HT - cd00685
Trans_IPPS - cd00867
Isoprenoid_Biosyn_C1 - cd00385


Swiss-Prot Protein: Q86YH6
Identical to: NP_065114
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Trans_IPPS_HTcd006852.8e-1096398
Isoprenoid_Biosyn_C1cd003852.8e-05111397
Trans_IPPScd008671.5e-07111398

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3734676 Polymorphismp.ARG4PRON/A
dbSNPrs3734675 Polymorphismp.PHE3LEUN/A
Swiss-ProtVAR_055398Diseasep.SER382LEUCoenzyme Q10 deficiency, primary, 3 (COQ10D3)
OMIM610564.0001 Diseasep.GLN322TERCOENZYME Q10 DEFICIENCY, PRIMARY, 3
OMIM610564.0002 Diseasep.SER382LEUCOENZYME Q10 DEFICIENCY, PRIMARY, 3



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