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Results for the Protein: O75880
8134663

SCO1_HUMAN RecName: Full=Protein SCO1 homolog, mitochondrial; Flags: Precursor

Known Diseases associated with this Protein:
  C OXIDASE DEFICIENCY
  HEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO CYTOCHROME
  MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D)
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Default View:

COG1999 - COG1999
SCO1-SenC - pfam02630
SCO - cd02968


Swiss-Prot Protein: O75880
Identical to: NP_004580
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SCOcd029687.6e-68136279
COG1999COG19993.5e-5390297
SCO1-SenCpfam026303.2e-48122282

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012109Diseasep.PRO174LEUMitochondrial complex IV deficiency (MT-C4D)
dbSNPrs1802083 Polymorphismp.PRO58SERN/A
OMIM603644.0002 Diseasep.PRO174LEUHEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO CYTOCHROME||c OXIDASE DEFICIENCY



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