|
|
|
|
Known Diseases associated with this Protein: | GASTROINTESTINAL STROMAL TUMOR (GIST)
| GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
| GASTROINTESTINAL STROMAL TUMOR, SOMATIC
| GERM CELL TUMOR, SOMATIC
| LEUKEMIA, ACUTE MYELOID
| MAST CELL DISEASE, SYSTEMIC
| MAST CELL LEUKEMIA
| MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, INCLUDED;;
| MASTOCYTOSIS, ADULT SPORADIC, INCLUDE
| MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET
| PIEBALD TRAIT (PBT)
| PIEBALDISM
| PIEBALDISM WITH SENSORINEURAL DEAFNESS
| PIEBALDISM, PROGRESSIVE
|
| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_023830 | Polymorphism | p.ALA829PRO | N/A | Swiss-Prot | VAR_004107 | Disease | p.ARG791GLY | Piebald trait (PBT) | Swiss-Prot | VAR_033132 | Disease | p.ARG796GLY | Piebald trait (PBT) | Swiss-Prot | VAR_042026 | Polymorphism | p.ARG804TRP | N/A | Swiss-Prot | VAR_023829 | Polymorphism | p.ASN822LYS | N/A | Swiss-Prot | VAR_042025 | Polymorphism | p.ASP737ASN | N/A | Swiss-Prot | VAR_033135 | Polymorphism | p.ASP820GLY | N/A | Swiss-Prot | VAR_033134 | Polymorphism | p.ASP816HIS | N/A | Swiss-Prot | VAR_033133 | Polymorphism | p.ASP816PHE | N/A | Swiss-Prot | VAR_023828 | Polymorphism | p.ASP816TYR | N/A | Swiss-Prot | VAR_004109 | Polymorphism | p.ASP816VAL | N/A | Swiss-Prot | VAR_042023 | Polymorphism | p.CYS691SER | N/A | Swiss-Prot | VAR_004104 | Disease | p.GLU583LYS | Piebald trait (PBT) | Swiss-Prot | VAR_033136 | Polymorphism | p.GLU839LYS | N/A | Swiss-Prot | VAR_033130 | Disease | p.GLY601ARG | Piebald trait (PBT) | Swiss-Prot | VAR_004106 | Disease | p.GLY664ARG | Piebald trait (PBT) | Swiss-Prot | VAR_004108 | Disease | p.GLY812VAL | Piebald trait (PBT) | Swiss-Prot | VAR_033131 | Disease | p.LEU656PRO | Piebald trait (PBT) | Swiss-Prot | VAR_033123 | Disease | p.LYS550ILE | Gastrointestinal stromal tumor (GIST) | dbSNP | rs3822214 | Polymorphism | p.MET541LEU | N/A | Swiss-Prot | VAR_061289 | Polymorphism | p.MET541VAL | N/A | Swiss-Prot | VAR_033129 | Disease | p.PHE584CYS | Piebald trait (PBT) | Swiss-Prot | VAR_004105 | Disease | p.PHE584LEU | Piebald trait (PBT) | Swiss-Prot | VAR_042024 | Polymorphism | p.SER715ASN | N/A | Swiss-Prot | VAR_033137 | Disease | p.THR847PRO | Piebald trait (PBT) | Swiss-Prot | VAR_033126 | Disease | p.VAL559ALA | Gastrointestinal stromal tumor (GIST) | Swiss-Prot | VAR_033127 | Disease | p.VAL559ASP | Gastrointestinal stromal tumor (GIST) | Swiss-Prot | VAR_042021 | Polymorphism | p.VAL532ILE | N/A | OMIM | 164920.0016 | Disease | p.ARG796GLY | PIEBALDISM WITH SENSORINEURAL DEAFNESS | OMIM | 164920.0010 | Disease | p.ASP820GLY | MAST CELL DISEASE, SYSTEMIC | OMIM | 164920.0021 | Disease | p.ASP816HIS | GERM CELL TUMOR, SOMATIC | OMIM | 164920.0018 | Disease | p.ASP816TYR | LEUKEMIA, ACUTE MYELOID | OMIM | 164920.0009 | Disease | p.ASP816VAL | MAST CELL LEUKEMIA||MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, INCLUDED;;||MASTOCYTOSIS, ADULT SPORADIC, INCLUDE | OMIM | 164920.0006 | Disease | p.GLU583LYS | PIEBALDISM | OMIM | 164920.0020 | Disease | p.GLU839LYS | MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET | OMIM | 164920.0001 | Disease | p.GLY664ARG | PIEBALDISM | OMIM | 164920.0024 | Disease | p.LYS642GLU | GASTROINTESTINAL STROMAL TUMOR, FAMILIAL | OMIM | 164920.0022 | Disease | p.PHE584CYS | PIEBALDISM | OMIM | 164920.0003 | Disease | p.PHE584LEU | PIEBALDISM | OMIM | 164920.0019 | Disease | p.THR847PRO | PIEBALDISM | OMIM | 164920.0023 | Disease | p.VAL559ALA | GASTROINTESTINAL STROMAL TUMOR, FAMILIAL | OMIM | 164920.0025 | Disease | p.VAL620ALA | PIEBALDISM, PROGRESSIVE | OMIM | 164920.0014 | Disease | p.VAL559ASP | GASTROINTESTINAL STROMAL TUMOR, 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 |
|