Mutations on the Protein: P15538 From Positions: 428 To 453
Swiss-Prot Disease: VAR_001265 
p.ARG448HIS
N/A
| |
N/A
|
|---|
Adrenal hyperplasia 4 (AH4)
|
|---|
dbSNP Polymorphism: rs5294 
OMIM Disease: 610613.0001 
p.ARG448HIS
N/A
| |
N/A
|
|---|
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||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 |
|
3
1
1
1