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Known Diseases associated with this Protein: | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
| EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (EDSMC1)
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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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Domains found on the Protein Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_063754 | Disease | p.ARG135GLY | Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) | Swiss-Prot | VAR_063756 | Disease | p.ARG213PRO | Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) | Swiss-Prot | VAR_064556 | Disease | p.CYS289SER | Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) | Swiss-Prot | VAR_063755 | Disease | p.LEU137GLN | Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) | Swiss-Prot | VAR_064555 | Disease | p.PRO281LEU | Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) | Swiss-Prot | VAR_063757 | Disease | p.TYR293CYS | Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) | OMIM | 608429.0003 | Disease | p.ARG135GLY | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | OMIM | 608429.0002 | Disease | p.ARG213PRO | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | OMIM | 608429.0009 | Disease | p.ARG274PRO | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | OMIM | 608429.0007 | Disease | p.CYS289SER | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | OMIM | 608429.0003 | Disease | p.LEU137GLN | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | OMIM | 608429.0006 | Disease | p.LYS69TER | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | OMIM | 608429.0005 | Disease | p.PRO281LEU | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | OMIM | 608429.0004 | Disease | p.TYR293CYS | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 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.
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