Results for the protein: P46019

Results for the Protein: P46019

1170685

5256

PHKA2

NCBI, UniProt

KPB2_HUMAN RecName: Full=Phosphorylase b kinase regulatory subunit alpha, liver isoform; Short=Phosphorylase kinase alpha L subunit

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 9A (GSD9A)
  GLYCOGEN STORAGE DISEASE, TYPE IXA1
  GLYCOGEN STORAGE DISEASE, TYPE IXA2

28

2

11

2

17

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Default View: Glyco_hydro_15 - pfam00723	Swiss-Prot Protein: P46019 Identical to: NP_000283 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_006180	Disease	p.ARG186CYS	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_006181	Disease	p.ARG186HIS	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_012272	Disease	p.ARG295HIS	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_062396	Disease	p.ARG916TRP	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_006183	Disease	p.ASP299GLY	Glycogen storage disease 9A (GSD9A)
dbSNP	rs17313469	Polymorphism	p.GLU38GLN	N/A
Swiss-Prot	VAR_012276	Disease	p.GLU1125LYS	Glycogen storage disease 9A (GSD9A)
dbSNP	rs16980929	Polymorphism	p.GLY416ARG	N/A
Swiss-Prot	VAR_012277	Disease	p.GLY1207TRP	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_012271	Disease	p.GLY193VAL	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_006177	Disease	p.HIS132PRO	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_006178	Disease	p.HIS132TYR	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_012269	Disease	p.LYS189GLU	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_062398	Disease	p.MET1113ILE	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_062395	Disease	p.PRO869ARG	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_006186	Disease	p.PRO1205LEU	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_062394	Disease	p.PRO498LEU	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_012273	Disease	p.PRO399SER	Glycogen storage disease 9A (GSD9A)
Swiss-Prot	VAR_006185	Disease	p.THR1114ILE	Glycogen storage disease 9A (GSD9A)
OMIM	300798.0012	Disease	p.ARG556CYS	GLYCOGEN STORAGE DISEASE, TYPE IXa2
OMIM	300798.0008	Disease	p.ARG186HIS	GLYCOGEN STORAGE DISEASE, TYPE IXa2
OMIM	300798.0007	Disease	p.ASP299GLY	GLYCOGEN STORAGE DISEASE, TYPE IXa1
OMIM	300798.0001	Disease	p.GLN1009TER	GLYCOGEN STORAGE DISEASE, TYPE IXa1
OMIM	300798.0002	Disease	p.GLN766TER	GLYCOGEN STORAGE DISEASE, TYPE IXa1
OMIM	300798.0009	Disease	p.HIS132PRO	GLYCOGEN STORAGE DISEASE, TYPE IXa2
OMIM	300798.0010	Disease	p.HIS132TYR	GLYCOGEN STORAGE DISEASE, TYPE IXa2
OMIM	300798.0015	Disease	p.LYS189GLU	GLYCOGEN STORAGE DISEASE, TYPE IXa2
OMIM	300798.0005	Disease	p.PRO1205LEU	GLYCOGEN STORAGE DISEASE, TYPE IXa1
OMIM	300798.0004	Disease	p.SER1049TER	GLYCOGEN STORAGE DISEASE, TYPE IXa1
OMIM	300798.0011	Disease	p.THR1114ILE	GLYCOGEN STORAGE DISEASE, TYPE IXa2

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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