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Known Diseases associated with this Protein: |  1
| IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs17123590 | Polymorphism | p.ARG54PRO | N/A | | OMIM | 602900.0008 | Disease | p.ALA507THR | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | | OMIM | 602900.0012 | Disease | p.ARG673GLN | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | | OMIM | 602900.0001 | Disease | p.ASP650GLY | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | | OMIM | 602900.0011 | Disease | p.GLN42TER | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | | OMIM | 602900.0004 | Disease | p.GLY559SER | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | | OMIM | 602900.0005 | Disease | p.LEU560THR | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | | OMIM | 602900.0013 | Disease | p.SER206PRO | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | | OMIM | 602900.0003 | Disease | p.VAL622GLY | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | | OMIM | 602900.0010 | Disease | p.VAL630GLY | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | | OMIM | 602900.0002 | Disease | p.VAL651MET | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES 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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333440489
DNA (cytosine-5)-methyltransferase 3B isoform 8 [Homo sapiens]
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