|
|
|---|
 |
|
Known Diseases associated with this Protein: |  MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY (MFDM)
| MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
|
|  | 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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
|---|
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_067580 | Disease | p.ARG262TRP | Mandibulofacial dysostosis with microcephaly (MFDM) | | Swiss-Prot | VAR_067581 | Disease | p.CYS476ARG | Mandibulofacial dysostosis with microcephaly (MFDM) | | Swiss-Prot | VAR_014931 | Polymorphism | p.GLY773VAL | N/A | | Swiss-Prot | VAR_067582 | Disease | p.LEU637ARG | Mandibulofacial dysostosis with microcephaly (MFDM) | | OMIM | 603892.0001 | Disease | p.ARG262TRP | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | | OMIM | 603892.0002 | Disease | p.GLN924TER | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | | OMIM | 603892.0007 | Disease | p.HIS208ARG | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | | OMIM | 603892.0005 | Disease | p.LEU637ARG | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | | OMIM | 603892.0004 | Disease | p.TYR831TER | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | | OMIM | 603892.0006 | Disease | p.TYR832TER | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE |
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 |
|
18202501
U5S1_HUMAN RecName: Full=116 kDa U5 small nuclear ribonucleoprotein component; AltName: Full=Elongation factor Tu GTP-binding domain-containing protein 2; AltName: Full=SNU114 homolog; Short=hSNU114; AltName: Full=U5 snRNP-specific protein, 116 kDa; Short=U5-116 kDa
9
1
6
0
4
