Mutations on the Protein: P07954 From Positions: 306 To 332
Swiss-Prot Disease: VAR_002446 
p.ALA308THR
N/A
| |
N/A
|
|---|
Fumarase deficiency (FHD)
|
|---|
Swiss-Prot Disease: VAR_013503 
p.MET328ARG
N/A
| |
N/A
|
|---|
Hereditary leiomyomatosis and renal cell cancer (HLRCC)
|
|---|
Swiss-Prot Disease: VAR_002447 
p.PHE312CYS
N/A
| |
N/A
|
|---|
Fumarase deficiency (FHD)
|
|---|
OMIM Disease: 136850.0002 
p.GLU319GLN
N/A
| |
N/A
|
|---|
FUMARASE DEFICIENCY
|
|---|
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 |
|
4
3
0
1