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Known Diseases associated with this Protein: | ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
| ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE (AMDM)
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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_022588 | Disease | p.ALA409THR | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_022592 | Disease | p.ARG957CYS | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_022591 | Disease | p.ARG776TRP | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_022585 | Disease | p.ASP176GLU | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_011968 | Polymorphism | p.GLN771GLU | N/A | Swiss-Prot | VAR_022593 | Disease | p.GLY959ALA | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_022589 | Disease | p.GLY413GLU | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_042219 | Polymorphism | p.MET232ILE | N/A | Swiss-Prot | VAR_022583 | Disease | p.PRO32THR | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_022586 | Disease | p.THR297MET | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_022584 | Disease | p.TRP115GLY | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_022587 | Disease | p.TYR338CYS | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_022590 | Disease | p.TYR708CYS | Acromesomelic dysplasia, Maroteaux type (AMDM) | Swiss-Prot | VAR_042220 | Polymorphism | p.VAL882ILE | N/A | OMIM | 108961.0004 | Disease | p.ARG388TER | ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE | OMIM | 108961.0003 | Disease | p.ASP176GLU | ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE | OMIM | 108961.0001 | Disease | p.PRO32THR | ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE | OMIM | 108961.0002 | Disease | p.TRP115GLY | ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE |
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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