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Results for the Protein: P11166
115502394

GTR1_HUMAN RecName: Full=Solute carrier family 2, facilitated glucose transporter member 1; AltName: Full=Glucose transporter type 1, erythrocyte/brain; Short=GLUT-1; AltName: Full=HepG2 glucose transporter

Known Diseases associated with this Protein:
  DYSTONIA 9
  DYSTONIA 9, INCLUDED
  EPILEPSY, IDIOPATHIC GENERALIZED 12 (EIG12)
  EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
  GLUT1 DEFICIENCY SYNDROME 1
  GLUT1 DEFICIENCY SYNDROME 1 (GLUT1DS1)
  GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
  GLUT1 DEFICIENCY SYNDROME 2
  GLUT1 DEFICIENCY SYNDROME 2 (GLUT1DS2)
  GLUT1 DEFICIENCY SYNDROME 2, INCLUDED;;
57
1
19
0
39
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MFS_1 - pfam07690


Swiss-Prot Protein: P11166
Identical to: NP_006507
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MFS_1pfam076901.1e-0743419

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065223Diseasep.ALA405ASPGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_054761Diseasep.ALA275THRGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_065211Diseasep.ALA155VALGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_054757Diseasep.ARG126CYSGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_054759Diseasep.ARG153CYSGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065213Diseasep.ARG212CYSGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_069078Diseasep.ARG232CYSEpilepsy, idiopathic generalized 12 (EIG12)
Swiss-ProtVAR_065221Diseasep.ARG333GLNGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_013183Diseasep.ARG126HISGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065210Diseasep.ARG153HISGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_065214Diseasep.ARG212HISGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_013184Diseasep.ARG126LEUGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065215Diseasep.ARG223PROEpilepsy, idiopathic generalized 12 (EIG12)
Swiss-ProtVAR_065216Diseasep.ARG223TRPGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_013286Diseasep.ARG333TRPGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_069080Diseasep.ARG468TRPGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_069077Diseasep.ARG92TRPGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_065207Diseasep.ARG93TRPGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_054755Diseasep.ASN34ILEGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_054756Diseasep.ASN34SERGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065218Diseasep.ASN317THRGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_065206Diseasep.ASN34TYRGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065220Diseasep.GLU329GLNGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_013284Diseasep.GLU146LYSGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065222Diseasep.GLY382ASPGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_013182Diseasep.GLY91ASPGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_054758Diseasep.GLY130SERGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_054764Diseasep.GLY314SERGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_013185Diseasep.LYS256GLUGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065209Diseasep.MET96VALGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065224Diseasep.PRO485LEUGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065208Diseasep.SER95ILEGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_065219Diseasep.SER324LEUGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_013283Diseasep.SER66PHEGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065784Diseasep.SER294PROGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_013285Diseasep.THR310ILEGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_054763Diseasep.THR295METGLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-ProtVAR_065212Diseasep.VAL165ILEGLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-ProtVAR_065217Polymorphismp.VAL303LEUN/A
OMIM138140.0010 Diseasep.ALA275THRGLUT1 DEFICIENCY SYNDROME 2
OMIM138140.0014 Diseasep.ARG126CYSGLUT1 DEFICIENCY SYNDROME 1||GLUT1 DEFICIENCY SYNDROME 2, INCLUDED;;||DYSTONIA 9, INCLUDED
OMIM138140.0018 Diseasep.ARG212CYSDYSTONIA 9
OMIM138140.0019 Diseasep.ARG232CYSEPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
OMIM138140.0007 Diseasep.ARG126HISGLUT1 DEFICIENCY SYNDROME 1
OMIM138140.0005 Diseasep.ARG126LEUGLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
OMIM138140.0020 Diseasep.ARG223PROEPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
OMIM138140.0021 Diseasep.ARG458TRPEPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
OMIM138140.0016 Diseasep.ARG468TRPGLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
OMIM138140.0015 Diseasep.ARG91TRPGLUT1 DEFICIENCY SYNDROME 2
OMIM138140.0013 Diseasep.ARG93TRPGLUT1 DEFICIENCY SYNDROME 2
OMIM138140.0011 Diseasep.ASN34ILEGLUT1 DEFICIENCY SYNDROME 2
OMIM138140.0022 Diseasep.ASN411SEREPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
OMIM138140.0006 Diseasep.GLY91ASPGLUT1 DEFICIENCY SYNDROME 1
OMIM138140.0009 Diseasep.GLY314SERGLUT1 DEFICIENCY SYNDROME 2
OMIM138140.0002 Diseasep.LYS456TERGLUT1 DEFICIENCY SYNDROME 1
OMIM138140.0004 Diseasep.LYS256VALGLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
OMIM138140.0012 Diseasep.SER95ILEGLUT1 DEFICIENCY SYNDROME 2
OMIM138140.0003 Diseasep.TYR449TERGLUT1 DEFICIENCY SYNDROME 1



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