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Results for the Protein: P36871
585670

PGM1_HUMAN RecName: Full=Phosphoglucomutase-1; Short=PGM 1; AltName: Full=Glucose phosphomutase 1

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 1T (CDG1T)
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT
  GLYCOGEN STORAGE DISEASE 14 (GSD14)
  GLYCOGEN STORAGE DISEASE XIV
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Default View:

Pgm - COG0033
PGM1 - cd03085
PGM_like3 - cd05801
{ManB} - COG1109
PGM_PMM_I - pfam02878
PGM_like4 - cd05803
phosphohexomutase - cd03084
GlmM - cd05802
PGM2 - cd05799
PGM_like1 - cd03087
PMM_PGM - cd03089
PGM_like2 - cd05800
PGM_PMM_II - pfam02879
PGM_PMM_III - pfam02880
PGM_PMM_IV - pfam00408


Swiss-Prot Protein: P36871
Identical to: NP_002624
   Default View:














Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PGM1cd030855562
PGM_like3cd058015.2e-086501
{ManB}COG11091.6e-2313543
phosphohexomutasecd030841.2e-9216536
PGM_like4cd058032.7e-0716475
PGM_like1cd030879.4e-0618449
PGM2cd057991.1e-1418523
GlmMcd058020.0001618460
PMM_PGMcd030897.4e-0928536
PGM_like2cd058001.9e-1736525
PGM_PMM_Ipfam028784.9e-5514158
PGM_PMM_IIpfam028798.4e-19193301
PGM_PMM_IIIpfam028802.3e-29306420
PGM_PMM_IVpfam004081.7e-20449550

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1126728 Polymorphismp.ARG221CYSN/A
Swiss-ProtVAR_069219Diseasep.GLY121ARGCongenital disorder of glycosylation 1T (CDG1T)
dbSNPrs855314 Polymorphismp.ILE88VALN/A
Swiss-ProtVAR_006090Polymorphismp.LYS68METN/A
Swiss-ProtVAR_062280Diseasep.THR115ALAGlycogen storage disease 14 (GSD14)
dbSNPrs11208257 Polymorphismp.TYR420HISN/A
dbSNPrs6676290 Polymorphismp.VAL501ILEN/A
OMIM171900.0004 Diseasep.ARG485TERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
OMIM171900.0003 Diseasep.GLY103ARGCONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
OMIM171900.0001 Diseasep.THR97ALAGLYCOGEN STORAGE DISEASE XIV



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