Mutations on the Protein: P42336 From Positions: 374 To 427
Swiss-Prot Polymorphism: VAR_069790 
Swiss-Prot Disease: VAR_026171 
p.CYS420ARG
N/A
| |
N/A
|
|---|
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE)
|
|---|
Swiss-Prot Disease: VAR_069254 
p.CYS378TYR
N/A
| |
N/A
|
|---|
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
|
|---|
dbSNP Polymorphism: rs3729680 
OMIM Disease: 171834.0019 
p.ARG382LYS
N/A
| |
N/A
|
|---|
COWDEN DISEASE 5
|
|---|
OMIM Disease: 171834.0010 
p.CYS420ARG
N/A
| |
N/A
|
|---|
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL||NEVI, SOMATIC
|
|---|
OMIM Disease: 171834.0012 
p.CYS378TYR
N/A
| |
N/A
|
|---|
MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
|
|---|
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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