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Results for the Protein: Q86SQ9
116241329

DHDDS_HUMAN RecName: Full=Dehydrodolichyl diphosphate synthase; Short=Dedol-PP synthase; AltName: Full=Cis-isoprenyltransferase; Short=CIT; Short=Cis-IPTase; AltName: Full=Epididymis tissue protein Li 189m

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 59
  RETINITIS PIGMENTOSA 59 (RP59)
2
1
1
0
2
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Default View:

UppS - COG0020
CIS_IPPS - cd00475
Prenyltransf - pfam01255


Swiss-Prot Protein: Q86SQ9
Identical to: NP_995583
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
UppSCOG00202.3e-999257
CIS_IPPScd004752.6e-15026249
Prenyltransfpfam012552e-11932268

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065356Diseasep.LYS42GLURetinitis pigmentosa 59 (RP59)
Swiss-ProtVAR_028088Polymorphismp.VAL253METN/A
OMIM608172.0001 Diseasep.LYS42GLURETINITIS PIGMENTOSA 59



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