Known Diseases associated with this Protein: |  GLYCOGEN STORAGE DISEASE XI
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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_004181 | Polymorphism | p.ARG315CYS | N/A | | Swiss-Prot | VAR_004180 | Polymorphism | p.LYS222GLU | N/A | | dbSNP | rs5030621 | Polymorphism | p.SER161ARG | N/A | | OMIM | 150000.0002 | Disease | p.GLU299TER | GLYCOGEN STORAGE DISEASE XI |
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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126047
LDHA_HUMAN RecName: Full=L-lactate dehydrogenase A chain; Short=LDH-A; AltName: Full=Cell proliferation-inducing gene 19 protein; AltName: Full=LDH muscle subunit; Short=LDH-M; AltName: Full=Renal carcinoma antigen NY-REN-59
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