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Results for the Protein: P13929
425906077

ENOB_HUMAN RecName: Full=Beta-enolase; AltName: Full=2-phospho-D-glycerate hydro-lyase; AltName: Full=Enolase 3; AltName: Full=Muscle-specific enolase; Short=MSE; AltName: Full=Skeletal muscle enolase

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 13 (GSD13)
  GLYCOGEN STORAGE DISEASE XIII
4
2
2
2
2
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Default View:

Eno - COG0148
Enolase_N - pfam03952
enolase - cd03313
enolase_like - cd00308
Enolase_C - pfam00113


Swiss-Prot Protein: P13929
Identical to: NP_001967, NP_443739
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
enolasecd033135416
enolase_likecd003082.1e-446395
Enolase_Npfam039523.3e-942134
Enolase_Cpfam001134.7e-209142432

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs238238 Polymorphismp.ASN71SERN/A
Swiss-ProtVAR_020620Diseasep.GLY156ASPGlycogen storage disease 13 (GSD13)
Swiss-ProtVAR_020621Diseasep.GLY374GLUGlycogen storage disease 13 (GSD13)
dbSNPrs238239 Polymorphismp.VAL85ALAN/A
OMIM131370.0001 Diseasep.GLY156ASPGLYCOGEN STORAGE DISEASE XIII
OMIM131370.0002 Diseasep.GLY374GLUGLYCOGEN STORAGE DISEASE XIII



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