Mutations on the Protein: Q9H3D4 From Positions: 544 To 578
Swiss-Prot Disease: VAR_020881 
p.CYS561GLY
N/A
| |
N/A
|
|---|
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)
|
|---|
Swiss-Prot Disease: VAR_035128 
p.ILE549THR
N/A
| |
N/A
|
|---|
Ectodermal dysplasia, Rapp-Hodgkin type (EDRH)
|
|---|
Swiss-Prot Disease: VAR_020879 
p.LEU553PHE
N/A
| |
N/A
|
|---|
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)
|
|---|
Swiss-Prot Polymorphism: VAR_020880 
OMIM Disease: 603273.0019 
p.ARG545PRO
N/A
| |
N/A
|
|---|
RAPP-HODGKIN SYNDROME
|
|---|
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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