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Known Diseases associated with this Protein: | SENIOR-LOKEN SYNDROME 5
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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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IQ | smart00015 | 4.9e-08 | 253 | 275 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs17849995 | Polymorphism | p.CYS301TYR | N/A | dbSNP | rs1141528 | Polymorphism | p.ILE260ASN | N/A | dbSNP | rs11926958 | Polymorphism | p.PHE142LEU | N/A | OMIM | 609237.0001 | Disease | p.ARG328TER | SENIOR-LOKEN SYNDROME 5 | OMIM | 609237.0008 | Disease | p.ARG356TER | SENIOR-LOKEN SYNDROME 5 | OMIM | 609237.0005 | Disease | p.GLN224TER | SENIOR-LOKEN SYNDROME 5 | OMIM | 609237.0009 | Disease | p.GLU213TER | SENIOR-LOKEN SYNDROME 5 |
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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