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Results for the Protein: Q15526
2498973

SURF1_HUMAN RecName: Full=Surfeit locus protein 1

Known Diseases associated with this Protein:
  LEIGH SYNDROME (LS)
  LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
14
4
4
1
13
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Swiss-Prot Protein: Q15526
Identical to: NP_003163
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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_068653Diseasep.ALA248ASPLeigh syndrome (LS)
Swiss-ProtVAR_068648Polymorphismp.ALA56GLYN/A
Swiss-ProtVAR_036340Polymorphismp.ASN89LYSN/A
dbSNPrs72619327 Polymorphismp.ASP202HISN/A
Swiss-ProtVAR_015258Diseasep.GLY124ARGLeigh syndrome (LS)
Swiss-ProtVAR_068654Diseasep.GLY257ARGLeigh syndrome (LS)
Swiss-ProtVAR_007450Diseasep.GLY124GLULeigh syndrome (LS)
Swiss-ProtVAR_068651Diseasep.GLY205GLULeigh syndrome (LS)
Swiss-ProtVAR_007452Diseasep.ILE246THRLeigh syndrome (LS)
Swiss-ProtVAR_068649Diseasep.LEU90PROLeigh syndrome (LS)
Swiss-ProtVAR_068652Diseasep.MET235THRLeigh syndrome (LS)
Swiss-ProtVAR_068682Polymorphismp.TRP227ARGN/A
Swiss-ProtVAR_015259Diseasep.TYR274ASPLeigh syndrome (LS)
Swiss-ProtVAR_068650Diseasep.VAL177GLYLeigh syndrome (LS)
OMIM185620.0006 Diseasep.GLN251TERLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM185620.0012 Diseasep.GLY124GLULEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM185620.0015 Diseasep.TRP227ARGLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM185620.0010 Diseasep.TYR274ASPLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY



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