Results for the protein: NP

Results for the Protein: NP_000636

116734849

178

AGL

NCBI

glycogen debranching enzyme isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE, TYPE IIIA
  GLYCOGEN STORAGE DISEASE, TYPE IIIB
  GLYCOGEN STORAGE DISEASE, TYPE IIIC

5

8

5

8

0

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Default View: GDB1 - COG3408 GDE_C - pfam06202	RefSeq Protein: NP_000636 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GDE_C	pfam06202		1025	1510

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17121464	Polymorphism	p.ARG370GLN	N/A
dbSNP	rs12043139	Polymorphism	p.ARG1236HIS	N/A
dbSNP	rs17121403	Polymorphism	p.GLN212ARG	N/A
dbSNP	rs2230307	Polymorphism	p.GLY1098ARG	N/A
dbSNP	rs28730701	Polymorphism	p.LYS368ASN	N/A
dbSNP	rs3753494	Polymorphism	p.PRO1050SER	N/A
dbSNP	rs34714252	Polymorphism	p.SER945CYS	N/A
dbSNP	rs35278779	Polymorphism	p.THR21ALA	N/A
OMIM	610860.0014	Disease	p.ARG1130GLY	GLYCOGEN STORAGE DISEASE, TYPE IIIc
OMIM	610860.0013	Disease	p.ARG391TER	GLYCOGEN STORAGE DISEASE, TYPE IIIa
OMIM	610860.0009	Disease	p.GLY1431ARG	GLYCOGEN STORAGE DISEASE, TYPE IIIa
OMIM	610860.0015	Disease	p.TRP1310TER	GLYCOGEN STORAGE DISEASE, TYPE IIIa
OMIM	610860.0003	Disease	p.TRP663TER	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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