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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs35829419 | Polymorphism | p.GLN705LYS | N/A | | OMIM | 606416.0004 | Disease | p.ALA352VAL | MUCKLE-WELLS SYNDROME | | OMIM | 606416.0001 | Disease | p.ALA439VAL | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | | OMIM | 606416.0005 | Disease | p.ARG260TRP | MUCKLE-WELLS SYNDROME||FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1, INCLUDED | | OMIM | 606416.0008 | Disease | p.ASP303ASN | CINCA SYNDROME||MUCKLE-WELLS SYNDROME, INCLUDED | | OMIM | 606416.0003 | Disease | p.GLU627GLY | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | | OMIM | 606416.0006 | Disease | p.GLY569ARG | MUCKLE-WELLS SYNDROME | | OMIM | 606416.0010 | Disease | p.LEU353PRO | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | | OMIM | 606416.0009 | Disease | p.PHE309SER | CINCA SYNDROME | | OMIM | 606416.0007 | Disease | p.PHE573SER | CINCA SYNDROME | | OMIM | 606416.0002 | Disease | p.VAL198MET | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 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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188536116
NACHT, LRR and PYD domains-containing protein 3 isoform c [Homo sapiens]
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