Results for the protein: P11168

Results for the Protein: P11168

121756

6514

SLC2A2

NCBI, UniProt

GTR2_HUMAN RecName: Full=Solute carrier family 2, facilitated glucose transporter member 2; AltName: Full=Glucose transporter type 2, liver; Short=GLUT-2

Known Diseases associated with this Protein:
  DIABETES MELLITUS, NONINSULIN-DEPENDENT
  FANCONI-BICKEL SYNDROME
  FANCONI-BICKEL SYNDROME (FBS)

11

6

8

2

7

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Default View: Sugar_tr - pfam00083 MFS - cd06174 ProP - COG0477 MFS_1 - pfam07690	Swiss-Prot Protein: P11168 Identical to: NP_000331 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ProP	COG0477	7.4e-08	43	490
Sugar_tr	pfam00083	2.6e-219	12	499
MFS_1	pfam07690	5e-08	59	451

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_052501	Polymorphism	p.ILE404THR	N/A
Swiss-Prot	VAR_018651	Disease	p.LEU389PRO	Fanconi-Bickel syndrome (FBS)
dbSNP	rs5397	Polymorphism	p.LEU478VAL	N/A
Swiss-Prot	VAR_018652	Disease	p.PRO417LEU	Fanconi-Bickel syndrome (FBS)
Swiss-Prot	VAR_007169	Polymorphism	p.PRO68LEU	N/A
dbSNP	rs5400	Polymorphism	p.THR110ILE	N/A
Swiss-Prot	VAR_018653	Disease	p.VAL423GLU	Fanconi-Bickel syndrome (FBS)
Swiss-Prot	VAR_014718	Polymorphism	p.VAL101ILE	N/A
Swiss-Prot	VAR_018650	Polymorphism	p.VAL197ILE	N/A
OMIM	138160.0004	Disease	p.ARG301TER	FANCONI-BICKEL SYNDROME
OMIM	138160.0003	Disease	p.ARG365TER	FANCONI-BICKEL SYNDROME
OMIM	138160.0014	Disease	p.GLN287TER	FANCONI-BICKEL SYNDROME
OMIM	138160.0015	Disease	p.LEU389PRO	FANCONI-BICKEL SYNDROME
OMIM	138160.0005	Disease	p.PRO417LEU	FANCONI-BICKEL SYNDROME
OMIM	138160.0006	Disease	p.TRP420TER	FANCONI-BICKEL SYNDROME
OMIM	138160.0012	Disease	p.VAL423GLU	FANCONI-BICKEL SYNDROME
OMIM	138160.0001	Disease	p.VAL197ILE	DIABETES MELLITUS, NONINSULIN-DEPENDENT

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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