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Known Diseases associated with this Protein: | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (CHTD2)
| CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2
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| ![](./hpdd/images/helix_pix.gif) | Tips: ![](./hpdd/images/star.JPG) The Domains on the Default View are decided by the Domain's E-Value. ![](./hpdd/images/star.JPG) Clicking a check box will display or hide the correlated domain. ![](./hpdd/images/star.JPG) To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_063775 | Disease | p.GLN230LYS | Congenital heart defects, multiple types, 2 (CHTD2) | Swiss-Prot | VAR_063774 | Disease | p.PRO208SER | Congenital heart defects, multiple types, 2 (CHTD2) | OMIM | 605101.0002 | Disease | p.GLN230LYS | CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2 | OMIM | 605101.0001 | Disease | p.PRO208SER | CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2 |
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 |
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