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Known Diseases associated with this Protein: | GELEOPHYSIC DYSPLASIA 1
| GELEOPHYSIC DYSPLASIA 1 (GPHYSD1)
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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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Swiss-Prot | VAR_066546 | Disease | p.ALA165THR | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_066549 | Disease | p.ALA239THR | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_066548 | Disease | p.ARG221CYS | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_066551 | Disease | p.ARG593CYS | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_066544 | Disease | p.ARG72GLN | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_054874 | Disease | p.ARG113HIS | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_066545 | Disease | p.ARG159TRP | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_066547 | Disease | p.CYS171ARG | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_054875 | Disease | p.GLU114LYS | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_054877 | Disease | p.GLY811ARG | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_054876 | Disease | p.PRO147LEU | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_066553 | Disease | p.PRO906LEU | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_066552 | Disease | p.SER635LEU | Geleophysic dysplasia 1 (GPHYSD1) | dbSNP | rs62637569 | Polymorphism | p.THR30ALA | N/A | Swiss-Prot | VAR_066543 | Disease | p.TRP50CYS | Geleophysic dysplasia 1 (GPHYSD1) | Swiss-Prot | VAR_046011 | Polymorphism | p.VAL364ILE | N/A | OMIM | 612277.0007 | Disease | p.ARG221CYS | GELEOPHYSIC DYSPLASIA 1 | OMIM | 612277.0006 | Disease | p.ARG72GLN | GELEOPHYSIC DYSPLASIA 1 | OMIM | 612277.0002 | Disease | p.ARG113HIS | GELEOPHYSIC DYSPLASIA 1 | OMIM | 612277.0004 | Disease | p.GLU811ARG | GELEOPHYSIC DYSPLASIA 1 | OMIM | 612277.0003 | Disease | p.GLU114LYS | GELEOPHYSIC DYSPLASIA 1 | OMIM | 612277.0001 | Disease | p.PRO147LEU | GELEOPHYSIC DYSPLASIA 1 | OMIM | 612277.0005 | Disease | p.TRP862TER | GELEOPHYSIC DYSPLASIA 1 |
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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