Mutations on the Protein: Q9H3D4 From Positions: 170 To 204
Swiss-Prot Polymorphism: VAR_020868 
Swiss-Prot Polymorphism: VAR_020866 
OMIM Disease: 603273.0002 
p.ARG204GLN
N/A
| |
N/A
|
|---|
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3
|
|---|
OMIM Disease: 603273.0001 
p.ARG204TRP
N/A
| |
N/A
|
|---|
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3
|
|---|
OMIM Disease: 603273.0005 
p.LYS194GLU
N/A
| |
N/A
|
|---|
SPLIT-HAND/FOOT MALFORMATION 4
|
|---|
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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5
2
0
3
N/A