Mutations on the Protein: NP_000042 From Positions: 2292 To 2445
dbSNP Polymorphism: rs4988111 
OMIM Disease: 607585.0019 
p.ARG2443TER
N/A
| |
N/A
|
|---|
ATAXIA-TELANGIECTASIA
|
|---|
OMIM Disease: 607585.0022 
p.GLU2423GLY
N/A
| |
N/A
|
|---|
MANTLE CELL LYMPHOMA
|
|---|
OMIM Disease: 607585.0005 
p.VAL2424GLY
N/A
| |
N/A
|
|---|
ATAXIA-TELANGIECTASIA VARIANT||T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC, INCLUDED;;||BREAST CANCER, SUSCEPTIBILITY TO, IN
|
|---|
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
0
1
3
N/A