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Known Diseases associated with this Protein: |  SPERMATOGENIC FAILURE, SUSCEPTIBILITY TO
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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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| RRM | smart00360 | 5.9e-18 | 44 | 111 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_069231 | Polymorphism | p.ARG115GLY | N/A | | dbSNP | rs11710967 | Polymorphism | p.THR12ALA | N/A | | Swiss-Prot | VAR_017781 | Polymorphism | p.THR54ALA | N/A | | OMIM | 601486.0001 | Disease | p.THR34ALA | SPERMATOGENIC FAILURE, SUSCEPTIBILITY TO |
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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27805453
DAZL_HUMAN RecName: Full=Deleted in azoospermia-like; AltName: Full=DAZ homolog; AltName: Full=DAZ-like autosomal; AltName: Full=Deleted in azoospermia-like 1; AltName: Full=SPGY-like-autosomal
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