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Results for the Protein: P17900
160331912

SAP3_HUMAN RecName: Full=Ganglioside GM2 activator; AltName: Full=Cerebroside sulfate activator protein; AltName: Full=GM2-AP; AltName: Full=Sphingolipid activator protein 3; Short=SAP-3; Contains: RecName: Full=Ganglioside GM2 activator isoform short; Flags: Precursor

Known Diseases associated with this Protein:
  GM2-GANGLIOSIDOSIS AB (GM2GAB)
  GM2-GANGLIOSIDOSIS, AB VARIANT
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Default View:

GM2-AP - cd00258
ML - smart00737
ML - cd00912


Swiss-Prot Protein: P17900
Identical to: NP_000396
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GM2-APcd002582.4e-13832193
MLcd009121.2e-7336188
MLsmart007372e-5336188

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1048719 Polymorphismp.ALA19THRN/A
Swiss-ProtVAR_011698Diseasep.ARG169PROGM2-gangliosidosis AB (GM2GAB)
Swiss-ProtVAR_006947Diseasep.CYS138ARGGM2-gangliosidosis AB (GM2GAB)
dbSNPrs153477 Polymorphismp.ILE59VALN/A
dbSNPrs153478 Polymorphismp.MET69VALN/A
dbSNPrs61740602 Polymorphismp.VAL153ALAN/A
OMIM613109.0002 Diseasep.ARG169PROGM2-GANGLIOSIDOSIS, AB VARIANT
OMIM613109.0001 Diseasep.CYS107ARGGM2-GANGLIOSIDOSIS, AB VARIANT
OMIM613109.0005 Diseasep.GLU54TERGM2-GANGLIOSIDOSIS, AB VARIANT



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