|
|
|---|
 |
|
Known Diseases associated with this Protein: |  PULMONARY SURFACTANT METABOLISM DYSFUNCTION 2 (SMDP2)
|
|  | 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 ↕ |
|---|
| Swiss-Prot | VAR_026754 | Disease | p.ALA116ASP | Pulmonary surfactant metabolism dysfunction 2 (SMDP2) | | Swiss-Prot | VAR_026755 | Disease | p.ARG167GLN | Pulmonary surfactant metabolism dysfunction 2 (SMDP2) | | Swiss-Prot | VAR_016175 | Polymorphism | p.ASN186SER | N/A | | Swiss-Prot | VAR_007453 | Polymorphism | p.ASN138THR | N/A | | Swiss-Prot | VAR_036855 | Disease | p.GLU66LYS | Pulmonary surfactant metabolism dysfunction 2 (SMDP2) | | Swiss-Prot | VAR_026753 | Disease | p.ILE73THR | Pulmonary surfactant metabolism dysfunction 2 (SMDP2) | | Swiss-Prot | VAR_026756 | Disease | p.LEU188GLN | Pulmonary surfactant metabolism dysfunction 2 (SMDP2) |
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 |
|
131425
PSPC_HUMAN RecName: Full=Pulmonary surfactant-associated protein C; Short=SP-C; AltName: Full=Pulmonary surfactant-associated proteolipid SPL(Val); AltName: Full=SP5; Flags: Precursor
5
2
0
0
7
