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Results for the Protein: Q16740
3023512

CLPP_HUMAN RecName: Full=Putative ATP-dependent Clp protease proteolytic subunit, mitochondrial; AltName: Full=Endopeptidase Clp; Flags: Precursor

Known Diseases associated with this Protein:
  PERRAULT SYNDROME 3
  PERRAULT SYNDROME 3 (PRLTS3)
4
0
2
0
2
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Swiss-Prot Protein: Q16740
Identical to: NP_006003
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070093Diseasep.CYS147SERPerrault syndrome 3 (PRLTS3)
Swiss-ProtVAR_070092Diseasep.THR145PROPerrault syndrome 3 (PRLTS3)
OMIM601119.0002 Diseasep.CYS147SERPERRAULT SYNDROME 3
OMIM601119.0001 Diseasep.THR145PROPERRAULT SYNDROME 3



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