Results for the protein: P08237

Results for the Protein: P08237

125126

5213

PFKM

NCBI, UniProt

K6PF_HUMAN RecName: Full=6-phosphofructokinase, muscle type; AltName: Full=Phosphofructo-1-kinase isozyme A; Short=PFK-A; Short=Phosphofructokinase-M; AltName: Full=Phosphofructokinase 1; AltName: Full=Phosphohexokinase

Known Diseases associated with this Protein:
GLYCOGEN STORAGE DISEASE 7 (GSD7)
GLYCOGEN STORAGE DISEASE VII

10

1

3

1

7

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Default View: Eukaryotic_PFK - cd00764 PfkA - COG0205 Bacterial_PFK - cd00763 PFK - cd00363 PFK - pfam00365	Swiss-Prot Protein: P08237 Identical to: NP_000280, NP_001160160, NP_001160159 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PfkA	COG0205	1.9e-128	14	389
PFK	cd00363	1.8e-245	16	383
Bacterial_PFK	cd00763	4e-89	16	374
PfkA	COG0205	6.5e-42	399	759
PFK	cd00363	3.8e-27	401	742
Bacterial_PFK	cd00763	1e-15	403	750
PFK	pfam00365	7.6e-226	16	326
PFK	pfam00365	1.5e-46	401	689

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2228500	Polymorphism	p.ARG100GLN	N/A
Swiss-Prot	VAR_006065	Disease	p.ARG100GLN	Glycogen storage disease 7 (GSD7)
Swiss-Prot	VAR_006069	Disease	p.ARG696HIS	Glycogen storage disease 7 (GSD7)
Swiss-Prot	VAR_006063	Disease	p.ARG39LEU	Glycogen storage disease 7 (GSD7)
Swiss-Prot	VAR_006064	Disease	p.ARG39PRO	Glycogen storage disease 7 (GSD7)
Swiss-Prot	VAR_006067	Disease	p.ASP543ALA	Glycogen storage disease 7 (GSD7)
Swiss-Prot	VAR_006066	Disease	p.GLY209ASP	Glycogen storage disease 7 (GSD7)
Swiss-Prot	VAR_006068	Disease	p.TRP686CYS	Glycogen storage disease 7 (GSD7)
OMIM	610681.0007	Disease	p.ARG24TER	GLYCOGEN STORAGE DISEASE VII
OMIM	610681.0004	Disease	p.ASP472ALA	GLYCOGEN STORAGE DISEASE VII
OMIM	610681.0008	Disease	p.TRP615CYS	GLYCOGEN STORAGE DISEASE VII

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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