Results for the protein: O43826

Results for the Protein: O43826

3913718

2542

SLC37A4

NCBI, UniProt

G6PT1_HUMAN RecName: Full=Glucose-6-phosphate translocase; AltName: Full=Glucose-5-phosphate transporter; AltName: Full=Solute carrier family 37 member 4; AltName: Full=Transformation-related gene 19 protein; Short=TRG-19

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 1B (GSD1B)
  GLYCOGEN STORAGE DISEASE 1C (GSD1C)
  GLYCOGEN STORAGE DISEASE IB
  GLYCOGEN STORAGE DISEASE IC

39

3

7

2

33

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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Default View: AraJ - COG2814 NarK - COG2223 UhpC - COG2271 ProP - COG0477 Sugar_tr - pfam00083 MFS - cd06174 MFS_1 - pfam07690	Swiss-Prot Protein: O43826 Identical to: NP_001458, NP_001157752, NP_001157749 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MFS	cd06174	5.7e-66	14	415
NarK	COG2223	0.00018	1	429
UhpC	COG2271	8.1e-68	1	429
AraJ	COG2814	8.1e-06	1	423
Sugar_tr	pfam00083	0.0001	12	425
MFS_1	pfam07690	6e-47	17	381

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025603	Disease	p.ALA373ASP	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025602	Disease	p.ALA367THR	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_066395	Disease	p.ALA148VAL	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025584	Disease	p.ARG28CYS	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_066397	Disease	p.ARG300CYS	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_016840	Disease	p.ARG28HIS	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025599	Disease	p.ARG300HIS	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025596	Polymorphism	p.ASN198ILE	N/A
Swiss-Prot	VAR_025583	Disease	p.ASN27LYS	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025594	Disease	p.CYS176ARG	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025595	Disease	p.CYS183ARG	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025591	Disease	p.GLN133PRO	Glycogen storage disease 1C (GSD1C)
dbSNP	rs34871377	Polymorphism	p.GLU427LYS	N/A
Swiss-Prot	VAR_025592	Disease	p.GLY150ARG	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025585	Disease	p.GLY50ARG	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025588	Disease	p.GLY68ARG	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025581	Disease	p.GLY20ASP	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025601	Disease	p.GLY339ASP	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025590	Disease	p.GLY88ASP	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_003185	Disease	p.GLY339CYS	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_003184	Disease	p.GLY149GLU	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_066394	Disease	p.GLY50GLU	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025604	Disease	p.GLY376SER	Glycogen storage disease 1C (GSD1C)
dbSNP	rs8192696	Polymorphism	p.GLY409SER	N/A
Swiss-Prot	VAR_025600	Disease	p.HIS301PRO	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025598	Disease	p.ILE278ASN	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025597	Disease	p.LEU229PRO	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025589	Disease	p.LEU85PRO	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025593	Disease	p.PRO153LEU	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_032113	Disease	p.PRO191LEU	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025586	Disease	p.SER54ARG	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025587	Disease	p.SER55ARG	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_007850	Disease	p.TRP118ARG	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_066396	Disease	p.TRP246ARG	Glycogen storage disease 1B (GSD1B)
Swiss-Prot	VAR_025582	Disease	p.TYR24HIS	Glycogen storage disease 1B (GSD1B)
OMIM	602671.0013	Disease	p.ARG28HIS	GLYCOGEN STORAGE DISEASE Ib
OMIM	602671.0014	Disease	p.ARG393TER	GLYCOGEN STORAGE DISEASE Ib
OMIM	602671.0002	Disease	p.GLU333TER	GLYCOGEN STORAGE DISEASE Ib
OMIM	602671.0015	Disease	p.GLY1ASP	GLYCOGEN STORAGE DISEASE Ib
OMIM	602671.0001	Disease	p.GLY1CYS	GLYCOGEN STORAGE DISEASE Ib
OMIM	602671.0003	Disease	p.TRP118ARG	GLYCOGEN STORAGE DISEASE Ib
OMIM	602671.0008	Disease	p.TRP96TER	GLYCOGEN STORAGE DISEASE Ic

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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