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Results for the Protein: NP_001161079
263190474

ganglioside GM2 activator isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  GM2-GANGLIOSIDOSIS, AB VARIANT
2
3
2
3
0
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Default View:

ML - smart00737




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MLsmart007375.4e-2636186

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1048719 Polymorphismp.ALA19THRN/A
dbSNPrs153477 Polymorphismp.ILE59VALN/A
dbSNPrs153478 Polymorphismp.MET69VALN/A
OMIM613109.0001 Diseasep.CYS107ARGGM2-GANGLIOSIDOSIS, AB VARIANT
OMIM613109.0005 Diseasep.GLU54TERGM2-GANGLIOSIDOSIS, AB VARIANT



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