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Known Diseases associated with this Protein: | TRICHORHINOPHALANGEAL SYNDROME, TYPE I
| TRICHORHINOPHALANGEAL SYNDROME, TYPE III
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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OMIM | 604386.0010 | Disease | p.ALA932VAL | TRICHORHINOPHALANGEAL SYNDROME, TYPE III | OMIM | 604386.0011 | Disease | p.ARG965CYS | TRICHORHINOPHALANGEAL SYNDROME, TYPE I | OMIM | 604386.0009 | Disease | p.ARG921GLN | TRICHORHINOPHALANGEAL SYNDROME, TYPE III | OMIM | 604386.0012 | Disease | p.ARG952HIS | TRICHORHINOPHALANGEAL SYNDROME, TYPE I | OMIM | 604386.0002 | Disease | p.ARG624TER | TRICHORHINOPHALANGEAL SYNDROME, TYPE I | OMIM | 604386.0005 | Disease | p.ARG853TER | TRICHORHINOPHALANGEAL SYNDROME, TYPE I | OMIM | 604386.0001 | Disease | p.CYS351TER | TRICHORHINOPHALANGEAL SYNDROME, TYPE I | OMIM | 604386.0007 | Disease | p.THR914PRO | TRICHORHINOPHALANGEAL SYNDROME, TYPE III | OMIM | 604386.0008 | Disease | p.TYR1105TER | TRICHORHINOPHALANGEAL SYNDROME, TYPE I |
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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