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Results for the Protein: O43819
8134662

SCO2_HUMAN RecName: Full=Protein SCO2 homolog, mitochondrial; Flags: Precursor

Known Diseases associated with this Protein:
  CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE
  CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1 (CEMCOX1)
  DEFICIENCY 1
  MYOPIA 6
  MYOPIA 6 (MYP6)
  MYOPIA 6, INCLUDED
14
2
8
2
6
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Default View:

COG1999 - COG1999
SCO1-SenC - pfam02630
SCO - cd02968




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1999COG19991.2e-5153261
SCO1-SenCpfam026308.9e-4785246

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs8139305 Polymorphismp.ALA259VALN/A
Swiss-ProtVAR_051912Diseasep.ALA259VALMyopia 6 (MYP6)
Swiss-ProtVAR_070053Diseasep.ARG114HISMyopia 6 (MYP6)
dbSNPrs140523 Polymorphismp.ARG20PRON/A
Swiss-ProtVAR_013238Diseasep.ARG171TRPCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)
Swiss-ProtVAR_070054Diseasep.CYS133TYRCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)
Swiss-ProtVAR_008874Diseasep.GLU140LYSMyopia 6 (MYP6)
Swiss-ProtVAR_008875Diseasep.SER225PHECardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1)
OMIM604272.0009 Diseasep.ARG114HISMYOPIA 6
OMIM604272.0005 Diseasep.ARG90TERCARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1
OMIM604272.0004 Diseasep.ARG171TRPCARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1
OMIM604272.0007 Diseasep.CYS133TYRCARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1
OMIM604272.0001 Diseasep.GLN53TERCARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1||MYOPIA 6, INCLUDED
OMIM604272.0002 Diseasep.GLU140LYSCARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1||MYOPIA 6, INCLUDED
OMIM604272.0003 Diseasep.SER225PHECARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1
OMIM604272.0008 Diseasep.TRP36TERCARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1



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