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|  | 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. |
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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_065338 | Disease | p.ALA318THR | Transposition of the great arteries dextro-looped 3 (DTGA3) | | dbSNP | rs4808863 | Polymorphism | p.ALA118VAL | N/A | | Swiss-Prot | VAR_065332 | Polymorphism | p.ARG68HIS | N/A | | Swiss-Prot | VAR_065335 | Disease | p.CYS267TYR | Conotruncal heart malformations (CTHM) | | Swiss-Prot | VAR_065333 | Disease | p.GLY162ASP | Tetralogy of Fallot (TOF) | | Swiss-Prot | VAR_065334 | Polymorphism | p.GLY262SER | N/A | | Swiss-Prot | VAR_065337 | Disease | p.PRO312THR | Tetralogy of Fallot (TOF) | | Swiss-Prot | VAR_065336 | Disease | p.SER309PRO | Tetralogy of Fallot (TOF) | | OMIM | 602880.0001 | Disease | p.CYS227TER | TRANSPOSITION OF GREAT ARTERIES, DEXTRO-LOOPED 3||RIGHT ATRIAL ISOMERISM, INCLUDED | | OMIM | 602880.0002 | Disease | p.CYS267TYR | DOUBLE-OUTLET RIGHT VENTRICLE | | OMIM | 602880.0003 | Disease | p.GLY162ASP | TETRALOGY OF FALLOT |
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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116242492
GDF1_HUMAN RecName: Full=Embryonic growth/differentiation factor 1; Short=GDF-1; Flags: Precursor
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