|
|
|---|
 |
|
Known Diseases associated with this Protein: |  KINDLER SYNDROME
| KINDLER SYNDROME (KINDS)
|
|  | 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 ↕ |
|---|
| PH | smart00233 | 1.1e-08 | 370 | 473 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_014399 | Polymorphism | p.ALA534THR | N/A | | dbSNP | rs62200482 | Polymorphism | p.ARG255CYS | N/A | | dbSNP | rs2232074 | Polymorphism | p.ARG526LYS | N/A | | dbSNP | rs16991866 | Polymorphism | p.ILE160THR | N/A | | Swiss-Prot | VAR_066943 | Disease | p.SER400PRO | Kindler syndrome (KINDS) | | Swiss-Prot | VAR_066944 | Disease | p.TRP559ARG | Kindler syndrome (KINDS) | | Swiss-Prot | VAR_061035 | Polymorphism | p.VAL241ALA | N/A | | OMIM | 607900.0005 | Disease | p.ARG271TER | KINDLER SYNDROME | | OMIM | 607900.0006 | Disease | p.ARG288TER | KINDLER SYNDROME | | OMIM | 607900.0002 | Disease | p.GLN263TER | KINDLER SYNDROME |
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 |
|
26392456
FERM1_HUMAN RecName: Full=Fermitin family homolog 1; AltName: Full=Kindlerin; AltName: Full=Kindlin syndrome protein; AltName: Full=Kindlin-1; AltName: Full=Unc-112-related protein 1
5
5
3
3
4
