Results for the protein: P35557

Results for the Protein: P35557

547696

2645

GCK

NCBI, UniProt

HXK4_HUMAN RecName: Full=Glucokinase; AltName: Full=Hexokinase type IV; Short=HK IV; AltName: Full=Hexokinase-4; Short=HK4; AltName: Full=Hexokinase-D

Known Diseases associated with this Protein:
FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA 3 (HHF3)
MATURITY-ONSET DIABETES OF THE YOUNG 2 (MODY2)

43

4

0

0

47

Tips:

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

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View:	Swiss-Prot Protein: P35557 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_012353	Disease	p.ALA119ASP	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010585	Disease	p.ALA53SER	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010583	Polymorphism	p.ALA11THR	N/A
Swiss-Prot	VAR_003700	Disease	p.ALA188THR	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010593	Disease	p.ALA259THR	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010598	Disease	p.ALA384THR	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010599	Disease	p.ARG392CYS	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010584	Disease	p.ARG36TRP	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003692	Polymorphism	p.ASP4ASN	N/A
Swiss-Prot	VAR_010592	Disease	p.CYS213ARG	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010597	Disease	p.CYS382TYR	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003709	Disease	p.GLU279GLN	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003711	Disease	p.GLU300GLN	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003702	Disease	p.GLU221LYS	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003706	Disease	p.GLU256LYS	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003712	Disease	p.GLU300LYS	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003693	Disease	p.GLU70LYS	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003694	Disease	p.GLY80ALA	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003698	Disease	p.GLY175ARG	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003708	Disease	p.GLY261ARG	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003710	Disease	p.GLY299ARG	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003704	Disease	p.GLY227CYS	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010594	Disease	p.GLY261GLU	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003695	Disease	p.GLY80SER	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_012354	Disease	p.GLY385VAL	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010587	Disease	p.HIS137ARG	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_012352	Disease	p.ILE110THR	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_012350	Disease	p.LEU164PRO	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003713	Disease	p.LEU309PRO	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003714	Disease	p.LYS414GLU	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_012351	Disease	p.MET210LYS	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003696	Polymorphism	p.MET107THR	N/A
Swiss-Prot	VAR_010591	Disease	p.MET210THR	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010588	Disease	p.PHE150SER	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010595	Disease	p.SER336LEU	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003697	Disease	p.SER131PRO	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010590	Disease	p.THR209MET	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003705	Disease	p.THR228MET	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010589	Disease	p.THR168PRO	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_066615	Polymorphism	p.THR342PRO	N/A
Swiss-Prot	VAR_003707	Disease	p.TRP257ARG	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010586	Disease	p.TYR108HIS	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003701	Disease	p.VAL203ALA	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003699	Disease	p.VAL182MET	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003703	Disease	p.VAL226MET	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_010596	Disease	p.VAL367MET	Maturity-onset diabetes of the young 2 (MODY2)
Swiss-Prot	VAR_003715	Disease	p.VAL455MET	Familial hyperinsulinemic hypoglycemia 3 (HHF3)

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258