Results for the protein: P11166

Results for the Protein: P11166

115502394

6513

SLC2A1

NCBI, UniProt

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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Default View: MFS_1 - pfam07690	Swiss-Prot Protein: P11166 Identical to: NP_006507 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065223	Disease	p.ALA405ASP	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_054761	Disease	p.ALA275THR	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_065211	Disease	p.ALA155VAL	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_054757	Disease	p.ARG126CYS	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_054759	Disease	p.ARG153CYS	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065213	Disease	p.ARG212CYS	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_069078	Disease	p.ARG232CYS	Epilepsy, idiopathic generalized 12 (EIG12)
Swiss-Prot	VAR_065221	Disease	p.ARG333GLN	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_013183	Disease	p.ARG126HIS	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065210	Disease	p.ARG153HIS	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_065214	Disease	p.ARG212HIS	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_013184	Disease	p.ARG126LEU	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065215	Disease	p.ARG223PRO	Epilepsy, idiopathic generalized 12 (EIG12)
Swiss-Prot	VAR_065216	Disease	p.ARG223TRP	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_013286	Disease	p.ARG333TRP	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_069080	Disease	p.ARG468TRP	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_069077	Disease	p.ARG92TRP	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_065207	Disease	p.ARG93TRP	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_054755	Disease	p.ASN34ILE	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_054756	Disease	p.ASN34SER	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065218	Disease	p.ASN317THR	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_065206	Disease	p.ASN34TYR	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065220	Disease	p.GLU329GLN	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_013284	Disease	p.GLU146LYS	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065222	Disease	p.GLY382ASP	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_013182	Disease	p.GLY91ASP	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_054758	Disease	p.GLY130SER	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_054764	Disease	p.GLY314SER	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_013185	Disease	p.LYS256GLU	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065209	Disease	p.MET96VAL	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065224	Disease	p.PRO485LEU	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065208	Disease	p.SER95ILE	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_065219	Disease	p.SER324LEU	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_013283	Disease	p.SER66PHE	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065784	Disease	p.SER294PRO	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_013285	Disease	p.THR310ILE	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_054763	Disease	p.THR295MET	GLUT1 deficiency syndrome 1 (GLUT1DS1)
Swiss-Prot	VAR_065212	Disease	p.VAL165ILE	GLUT1 deficiency syndrome 2 (GLUT1DS2)
Swiss-Prot	VAR_065217	Polymorphism	p.VAL303LEU	N/A
OMIM	138140.0010	Disease	p.ALA275THR	GLUT1 DEFICIENCY SYNDROME 2
OMIM	138140.0014	Disease	p.ARG126CYS	GLUT1 DEFICIENCY SYNDROME 1\|\|GLUT1 DEFICIENCY SYNDROME 2, INCLUDED;;\|\|DYSTONIA 9, INCLUDED
OMIM	138140.0018	Disease	p.ARG212CYS	DYSTONIA 9
OMIM	138140.0019	Disease	p.ARG232CYS	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
OMIM	138140.0007	Disease	p.ARG126HIS	GLUT1 DEFICIENCY SYNDROME 1
OMIM	138140.0005	Disease	p.ARG126LEU	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
OMIM	138140.0020	Disease	p.ARG223PRO	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
OMIM	138140.0021	Disease	p.ARG458TRP	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
OMIM	138140.0016	Disease	p.ARG468TRP	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
OMIM	138140.0015	Disease	p.ARG91TRP	GLUT1 DEFICIENCY SYNDROME 2
OMIM	138140.0013	Disease	p.ARG93TRP	GLUT1 DEFICIENCY SYNDROME 2
OMIM	138140.0011	Disease	p.ASN34ILE	GLUT1 DEFICIENCY SYNDROME 2
OMIM	138140.0022	Disease	p.ASN411SER	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
OMIM	138140.0006	Disease	p.GLY91ASP	GLUT1 DEFICIENCY SYNDROME 1
OMIM	138140.0009	Disease	p.GLY314SER	GLUT1 DEFICIENCY SYNDROME 2
OMIM	138140.0002	Disease	p.LYS456TER	GLUT1 DEFICIENCY SYNDROME 1
OMIM	138140.0004	Disease	p.LYS256VAL	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
OMIM	138140.0012	Disease	p.SER95ILE	GLUT1 DEFICIENCY SYNDROME 2
OMIM	138140.0003	Disease	p.TYR449TER	GLUT1 DEFICIENCY SYNDROME 1

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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