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Results for the Protein: P08237
125126

K6PF_HUMAN RecName: Full=6-phosphofructokinase, muscle type; AltName: Full=Phosphofructo-1-kinase isozyme A; Short=PFK-A; Short=Phosphofructokinase-M; AltName: Full=Phosphofructokinase 1; AltName: Full=Phosphohexokinase

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 7 (GSD7)
  GLYCOGEN STORAGE DISEASE VII
10
1
3
1
7
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Default View:

Eukaryotic_PFK - cd00764
PfkA - COG0205
Bacterial_PFK - cd00763
PFK - cd00363
PFK - pfam00365




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Eukaryotic_PFKcd0076413774
PfkACOG02051.9e-12814389
PFKcd003631.8e-24516383
Bacterial_PFKcd007634e-8916374
PfkACOG02056.5e-42399759
PFKcd003633.8e-27401742
Bacterial_PFKcd007631e-15403750
PFKpfam003657.6e-22616326
PFKpfam003651.5e-46401689

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2228500 Polymorphismp.ARG100GLNN/A
Swiss-ProtVAR_006065Diseasep.ARG100GLNGlycogen storage disease 7 (GSD7)
Swiss-ProtVAR_006069Diseasep.ARG696HISGlycogen storage disease 7 (GSD7)
Swiss-ProtVAR_006063Diseasep.ARG39LEUGlycogen storage disease 7 (GSD7)
Swiss-ProtVAR_006064Diseasep.ARG39PROGlycogen storage disease 7 (GSD7)
Swiss-ProtVAR_006067Diseasep.ASP543ALAGlycogen storage disease 7 (GSD7)
Swiss-ProtVAR_006066Diseasep.GLY209ASPGlycogen storage disease 7 (GSD7)
Swiss-ProtVAR_006068Diseasep.TRP686CYSGlycogen storage disease 7 (GSD7)
OMIM610681.0007 Diseasep.ARG24TERGLYCOGEN STORAGE DISEASE VII
OMIM610681.0004 Diseasep.ASP472ALAGLYCOGEN STORAGE DISEASE VII
OMIM610681.0008 Diseasep.TRP615CYSGLYCOGEN STORAGE DISEASE VII



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