Results for the protein: P35573

Results for the Protein: P35573

116242491

178

AGL

NCBI, UniProt

GDE_HUMAN RecName: Full=Glycogen debranching enzyme; AltName: Full=Glycogen debrancher; Includes: RecName: Full=4-alpha-glucanotransferase; AltName: Full=Oligo-1,4-1,4-glucantransferase; Includes: RecName: Full=Amylo-alpha-1,6-glucosidase; Short=Amylo-1,6-glucosidase; AltName: Full=Dextrin 6-alpha-D-glucosidase

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 3 (GSD3)
  GLYCOGEN STORAGE DISEASE, TYPE IIIA
  GLYCOGEN STORAGE DISEASE, TYPE IIIB
  GLYCOGEN STORAGE DISEASE, TYPE IIIC

7

13

6

8

6

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Default View: GDB1 - COG3408 GDE_C - pfam06202	Swiss-Prot Protein: P35573 Identical to: NP_000019, NP_000635, NP_000633, NP_000634 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GDE_C	pfam06202		1042	1527

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_028052	Polymorphism	p.ALA701SER	N/A
Swiss-Prot	VAR_051010	Polymorphism	p.ALA1207THR	N/A
dbSNP	rs17121464	Polymorphism	p.ARG387GLN	N/A
Swiss-Prot	VAR_028055	Polymorphism	p.ARG1487GLY	N/A
dbSNP	rs12043139	Polymorphism	p.ARG1253HIS	N/A
dbSNP	rs17121403	Polymorphism	p.GLN229ARG	N/A
Swiss-Prot	VAR_009622	Polymorphism	p.GLU1343LYS	N/A
dbSNP	rs2230307	Polymorphism	p.GLY1115ARG	N/A
Swiss-Prot	VAR_009231	Disease	p.GLY1448ARG	Glycogen storage disease 3 (GSD3)
Swiss-Prot	VAR_028053	Polymorphism	p.ILE1144ASN	N/A
dbSNP	rs28730701	Polymorphism	p.LYS385ASN	N/A
dbSNP	rs3753494	Polymorphism	p.PRO1067SER	N/A
dbSNP	rs34714252	Polymorphism	p.SER962CYS	N/A
dbSNP	rs35278779	Polymorphism	p.THR38ALA	N/A
OMIM	610860.0014	Disease	p.ARG1147GLY	GLYCOGEN STORAGE DISEASE, TYPE IIIc
OMIM	610860.0013	Disease	p.ARG408TER	GLYCOGEN STORAGE DISEASE, TYPE IIIa
OMIM	610860.0002	Disease	p.GLN6TER	GLYCOGEN STORAGE DISEASE, TYPE IIIb
OMIM	610860.0009	Disease	p.GLY1448ARG	GLYCOGEN STORAGE DISEASE, TYPE IIIa
OMIM	610860.0015	Disease	p.TRP1327TER	GLYCOGEN STORAGE DISEASE, TYPE IIIa
OMIM	610860.0003	Disease	p.TRP680TER	GLYCOGEN STORAGE DISEASE, TYPE IIIb

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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