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Results for the Protein: Q06210
30923274

GFPT1_HUMAN RecName: Full=Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; AltName: Full=D-fructose-6-phosphate amidotransferase 1; AltName: Full=Glutamine:fructose-6-phosphate amidotransferase 1; Short=GFAT 1; Short=GFAT1; AltName: Full=Hexosephosphate aminotransferase 1

Known Diseases associated with this Protein:
  MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES, 1 (CMSTA1)
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Default View:

PurF - COG0034
GlmS - COG0449
GltB - COG0067
GlxB - cd01907
GPATase_N - cd00715
AsnB - cd00712
Gn_AT_II - cd00352
GATase_2 - pfam00310
GFAT - cd00714
AgaS - COG2222
SIS_RpiR - cd05013
SIS - pfam01380
SIS_Kpsf - cd05014
SIS_1 - cd05710
SIS_GlmS_GlmD_1 - cd05008
SIS - cd04795
SIS_GlmS_GlmD_2 - cd05009


Swiss-Prot Protein: Q06210
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PurFCOG00341.4e-061363
GltBCOG00674e-051231
GlmSCOG04491.1e-2861699
Gn_AT_IIcd003521.7e-762300
AsnBcd007120.000932206
GFATcd007143e-1602302
GPATase_Ncd007151.8e-082234
GlxBcd019071.9e-062234
SIS_RpiRcd050130.00024372509
SIS_Kpsfcd050145.4e-05385511
SIS_GlmS_GlmD_1cd050083.2e-69386511
SIS_1cd057104.1e-08386509
SIScd047951.6e-12387510
SIS_GlmS_GlmD_2cd050094.4e-77543697
GATase_2pfam003103.6e-552215
AgaSCOG22223e-44339699
SISpfam013801.3e-42380509
SISpfam013803.7e-39551682

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065342Diseasep.ARG111CYSMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065346Diseasep.ARG403HISMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065347Diseasep.ARG452HISMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065350Diseasep.ARG514TRPMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065351Diseasep.ARG530TRPMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065345Diseasep.ASP366TYRMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065341Diseasep.ASP43VALMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065343Diseasep.ILE121THRMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065348Diseasep.MET509THRMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065349Diseasep.MET510THRMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065339Diseasep.THR15ALAMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065340Diseasep.THR15METMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)
Swiss-ProtVAR_065344Diseasep.VAL199PHEMyasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)



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