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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs5988 | Polymorphism | p.GLU652GLN | N/A | dbSNP | rs5982 | Polymorphism | p.PRO565LEU | N/A | dbSNP | rs5987 | Polymorphism | p.VAL651ILE | N/A | dbSNP | rs5985 | Polymorphism | p.VAL35LEU | N/A | OMIM | 134570.0011 | Disease | p.ARG326GLN | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0009 | Disease | p.ARG260HIS | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0002 | Disease | p.ARG681HIS | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0003 | Disease | p.ARG171TER | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0017 | Disease | p.ARG661TER | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0016 | Disease | p.ARG703TRP | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0005 | Disease | p.ASN60LYS | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0006 | Disease | p.GLY501ARG | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0007 | Disease | p.GLY562ARG | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0018 | Disease | p.MET242THR | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0013 | Disease | p.TYR283CYS | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0004 | Disease | p.TYR441TER | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0010 | Disease | p.VAL34LEU | MYOCARDIAL INFARCTION, PROTECTION AGAINST||VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED | OMIM | 134570.0012 | Disease | p.VAL316PHE | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | OMIM | 134570.0008 | Disease | p.VAL414PHE | FACTOR XIII, A SUBUNIT, DEFICIENCY OF |
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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