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Results for the Protein: Q96JX3
74751971

SRAC1_HUMAN RecName: Full=Protein SERAC1; AltName: Full=Serine active site-containing protein 1

Known Diseases associated with this Protein:
  3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE
  3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (MEGDEL)
  SYNDROME
4
2
1
1
4
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Swiss-Prot Protein: Q96JX3
Identical to: NP_116250
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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_068442Diseasep.GLY401ASP3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
Swiss-ProtVAR_068443Diseasep.GLY404GLU3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
dbSNPrs34270473 Polymorphismp.ILE30THRN/A
Swiss-ProtVAR_068445Diseasep.SER498THR3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
Swiss-ProtVAR_030342Polymorphismp.SER543THRN/A
OMIM614725.0001 Diseasep.ARG148TER3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE||SYNDROME



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