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Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE 2N (CMT2N)
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N
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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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| Swiss-Prot | VAR_063527 | Disease | p.ARG329HIS | Charcot-Marie-Tooth disease 2N (CMT2N) | | Swiss-Prot | VAR_067084 | Disease | p.ASN71TYR | Charcot-Marie-Tooth disease 2N (CMT2N) | | dbSNP | rs11537667 | Polymorphism | p.GLY275ASP | N/A | | OMIM | 601065.0001 | Disease | p.ARG329HIS | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N | | OMIM | 601065.0002 | Disease | p.ASN71TYR | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N |
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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115502460
SYAC_HUMAN RecName: Full=Alanine--tRNA ligase, cytoplasmic; AltName: Full=Alanyl-tRNA synthetase; Short=AlaRS; AltName: Full=Renal carcinoma antigen NY-REN-42
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