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Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
| SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4
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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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| OMIM | 611101.0005 | Disease | p.GLY810ARG | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B | | OMIM | 611101.0001 | Disease | p.PHE637SER | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 | | OMIM | 611101.0004 | Disease | p.THR653MET | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B |
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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388240780
pleckstrin homology domain-containing family G member 5 isoform e [Homo sapiens]
3
0
3
0
0
