|
|
|---|
 |
|
Known Diseases associated with this Protein: |  MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
| MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (MCPH10)
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs61755160 | Polymorphism | p.ALA105THR | N/A | | Swiss-Prot | VAR_047560 | Polymorphism | p.ARG65CYS | N/A | | Swiss-Prot | VAR_069469 | Disease | p.ARG1111HIS | Microcephaly 10, primary, autosomal recessive (MCPH10) | | dbSNP | rs41280276 | Polymorphism | p.ASP865GLU | N/A | | Swiss-Prot | VAR_047561 | Polymorphism | p.GLY101SER | N/A | | dbSNP | rs113958814 | Polymorphism | p.PRO1267GLN | N/A | | dbSNP | rs6032606 | Polymorphism | p.SER294THR | N/A | | Swiss-Prot | VAR_047562 | Polymorphism | p.TYR603HIS | N/A | | OMIM | 610827.0001 | Disease | p.ARG1111HIS | MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE |
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 |
|
20141037
ZN335_HUMAN RecName: Full=Zinc finger protein 335; AltName: Full=NRC-interacting factor 1; Short=NIF-1
2
7
1
4
4
