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Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
| DEAFNESS, AUTOSOMAL RECESSIVE 89
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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 | rs6834 | Polymorphism | p.THR623SER | N/A | | OMIM | 601421.0004 | Disease | p.ASP377ASN | DEAFNESS, AUTOSOMAL RECESSIVE 89 | | OMIM | 601421.0001 | Disease | p.LEU133HIS | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B | | OMIM | 601421.0003 | Disease | p.TYR173HIS | DEAFNESS, AUTOSOMAL RECESSIVE 89 |
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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194272210
lysine--tRNA ligase isoform 1 [Homo sapiens]
3
1
3
1
0
