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Results for the Protein: P04075
113606
226

ALDOA_HUMAN RecName: Full=Fructose-bisphosphate aldolase A; AltName: Full=Lung cancer antigen NY-LU-1; AltName: Full=Muscle-type aldolase

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 12 (GSD12)
  GLYCOGEN STORAGE DISEASE XII
6
2
2
0
6
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Default View:

COG3588 - COG3588
FBP_aldolase_I - cd00344
FBP_aldolase_I_a - cd00948
Glycolytic - pfam00274
Aldolase_Class_I - cd00945


Swiss-Prot Protein: P04075
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FBP_aldolase_I_acd009486.8e-26713343
Aldolase_Class_Icd009455.7e-1429303
COG3588COG35884.5e-14112345
Glycolyticpfam002749.5e-27215364

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_000550Diseasep.ASP129GLYGlycogen storage disease 12 (GSD12)
Swiss-ProtVAR_044143Diseasep.CYS339TYRGlycogen storage disease 12 (GSD12)
Swiss-ProtVAR_048219Polymorphismp.GLU82GLNN/A
Swiss-ProtVAR_044142Diseasep.GLU207LYSGlycogen storage disease 12 (GSD12)
Swiss-ProtVAR_044144Diseasep.GLY347SERGlycogen storage disease 12 (GSD12)
Swiss-ProtVAR_048220Polymorphismp.GLY142VALN/A
OMIM103850.0001 Diseasep.ASP74GLYGLYCOGEN STORAGE DISEASE XII
OMIM103850.0002 Diseasep.GLU152LYSGLYCOGEN STORAGE DISEASE XII



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