|
|
|
|
Known Diseases associated with this Protein: | MALFORMATIONS
| MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE
| MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS
| MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL
| MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS (MCPH2)
|
| | 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 ↕ |
---|
dbSNP | rs61743589 | Polymorphism | p.ARG1220HIS | N/A | Swiss-Prot | VAR_065844 | Disease | p.ARG438HIS | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) | Swiss-Prot | VAR_065845 | Disease | p.ASP511ASN | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) | Swiss-Prot | VAR_057629 | Polymorphism | p.GLN1311GLU | N/A | dbSNP | rs2074435 | Polymorphism | p.GLN1305LEU | N/A | Swiss-Prot | VAR_063703 | Disease | p.GLU526LYS | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) | dbSNP | rs17851503 | Polymorphism | p.GLY1370SER | N/A | dbSNP | rs1008328 | Polymorphism | p.LEU1385PHE | N/A | dbSNP | rs2285745 | Polymorphism | p.LEU850SER | N/A | Swiss-Prot | VAR_055014 | Polymorphism | p.LYS289ARG | N/A | dbSNP | rs61747277 | Polymorphism | p.LYS771ARG | N/A | dbSNP | rs61741470 | Polymorphism | p.MET1129ARG | N/A | dbSNP | rs74518295 | Polymorphism | p.SER992LEU | N/A | dbSNP | rs61734910 | Polymorphism | p.TRP1456GLY | N/A | Swiss-Prot | VAR_063702 | Disease | p.TRP224SER | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) | Swiss-Prot | VAR_065843 | Disease | p.VAL65MET | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) | OMIM | 613583.0006 | Disease | p.ARG438HIS | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE | OMIM | 613583.0008 | Disease | p.ASP511ASN | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE | OMIM | 613583.0004 | Disease | p.GLN470TER | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS | OMIM | 613583.0002 | Disease | p.GLU526LYS | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS | OMIM | 613583.0003 | Disease | p.TRP224SER | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS | OMIM | 613583.0011 | Disease | p.VAL65MET | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL||MALFORMATIONS |
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 |
|