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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs17123590 | Polymorphism | p.ARG54PRO | N/A | OMIM | 602900.0008 | Disease | p.ALA583THR | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | OMIM | 602900.0012 | Disease | p.ARG812GLN | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | OMIM | 602900.0001 | Disease | p.ASP789GLY | 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.GLY635SER | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | OMIM | 602900.0005 | Disease | p.LEU636THR | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | OMIM | 602900.0013 | Disease | p.SER282PRO | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | OMIM | 602900.0003 | Disease | p.VAL698GLY | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | OMIM | 602900.0010 | Disease | p.VAL706GLY | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 | OMIM | 602900.0002 | Disease | p.VAL790MET | 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.
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21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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