|
|
|---|
 |
|
Known Diseases associated with this Protein: |  LEFT-RIGHT AXIS MALFORMATIONS
| LEFT-RIGHT AXIS MALFORMATIONS (LRAM)
|
|  | 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 | rs2295418 | Polymorphism | p.PRO286LEU | N/A | | Swiss-Prot | VAR_010385 | Disease | p.SER342ASN | Left-right axis malformations (LRAM) | | Swiss-Prot | VAR_021980 | Polymorphism | p.SER92LEU | N/A | | dbSNP | rs61731738 | Polymorphism | p.VAL328ILE | N/A | | OMIM | 601877.0001 | Disease | p.ARG314TER | LEFT-RIGHT AXIS MALFORMATIONS | | OMIM | 601877.0002 | Disease | p.SER342LYS | LEFT-RIGHT AXIS MALFORMATIONS |
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 |
|
13124811
LFTY2_HUMAN RecName: Full=Left-right determination factor 2; AltName: Full=Endometrial bleeding-associated factor; AltName: Full=Left-right determination factor A; AltName: Full=Protein lefty-2; AltName: Full=Protein lefty-A; AltName: Full=Transforming growth factor beta-4; Short=TGF-beta-4; Flags: Precursor
3
3
2
2
2
