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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE 88 (1 FAMILY)
| DEAFNESS, AUTOSOMAL RECESSIVE, 88 (DFNB88)
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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs7564372 | Polymorphism | p.ARG66CYS | N/A | | dbSNP | rs17850709 | Polymorphism | p.ARG325LEU | N/A | | Swiss-Prot | VAR_070125 | Disease | p.LEU265SER | Deafness, autosomal recessive, 88 (DFNB88) | | dbSNP | rs78809694 | Polymorphism | p.SER105GLY | N/A | | dbSNP | rs955592 | Polymorphism | p.THR70ILE | N/A | | OMIM | 615427.0001 | Disease | p.LEU265SER | DEAFNESS, AUTOSOMAL RECESSIVE 88 (1 family) |
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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313104101
ELMD3_HUMAN RecName: Full=ELMO domain-containing protein 3; AltName: Full=RNA-binding motif and ELMO domain-containing protein 1; AltName: Full=RNA-binding motif protein 29; AltName: Full=RNA-binding protein 29
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