Mutations on the Protein: P10253 From Positions: 476 To 524
Swiss-Prot Disease: VAR_068600 
p.ALA486PRO
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_029037 
p.ASP489ASN
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_068601 
p.GLU521GLN
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_004295 
p.GLU521LYS
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_004291 
p.GLY478ARG
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_068599 
p.GLY483VAL
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_004293 
p.MET519THR
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_004294 
p.MET519VAL
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_046471 
p.PRO522ALA
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_068598 
p.PRO482ARG
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_068602 
p.PRO522SER
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_068603 
p.SER523TYR
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
Swiss-Prot Disease: VAR_004292 
p.TRP481ARG
N/A
| |
N/A
|
|---|
Glycogen storage disease 2 (GSD2)
|
|---|
OMIM Disease: 606800.0003 
p.GLU521LYS
N/A
| |
N/A
|
|---|
GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
|
|---|
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 |
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