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Known Diseases associated with this Protein: | MUCOLIPIDOSIS IV
| MUCOLIPIDOSIS TYPE IV (MLIV)
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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 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_038380 | Disease | p.ARG403CYS | Mucolipidosis type IV (MLIV) | Swiss-Prot | VAR_019371 | Disease | p.ASP362TYR | Mucolipidosis type IV (MLIV) | Swiss-Prot | VAR_019369 | Disease | p.LEU106PRO | Mucolipidosis type IV (MLIV) | Swiss-Prot | VAR_019374 | Disease | p.LEU447PRO | Mucolipidosis type IV (MLIV) | Swiss-Prot | VAR_019375 | Disease | p.PHE465LEU | Mucolipidosis type IV (MLIV) | Swiss-Prot | VAR_019370 | Disease | p.THR232PRO | Mucolipidosis type IV (MLIV) | Swiss-Prot | VAR_036453 | Polymorphism | p.VAL331LEU | N/A | Swiss-Prot | VAR_019373 | Disease | p.VAL446LEU | Mucolipidosis type IV (MLIV) | OMIM | 605248.0007 | Disease | p.ARG403CYS | MUCOLIPIDOSIS IV | OMIM | 605248.0006 | Disease | p.ARG102TER | MUCOLIPIDOSIS IV | OMIM | 605248.0003 | Disease | p.ARG321TER | MUCOLIPIDOSIS IV | OMIM | 605248.0005 | Disease | p.ASP362TYR | MUCOLIPIDOSIS IV |
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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