|
|
|---|
 |
|
Known Diseases associated with this Protein: |  MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (1 FAMILY)
| MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (MCAHS3)
|
|  | 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_053583 | Polymorphism | p.ALA473THR | N/A | | Swiss-Prot | VAR_070448 | Disease | p.THR183PRO | Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) | | OMIM | 610272.0001 | Disease | p.THR183PRO | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (1 family) |
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 |
|
44888284
PIGT_HUMAN RecName: Full=GPI transamidase component PIG-T; AltName: Full=Phosphatidylinositol-glycan biosynthesis class T protein; Flags: Precursor
2
1
1
0
2
