Mutations on the Protein: P35499 From Positions: 184 To 275
Swiss-Prot Disease: VAR_054935 

p.ARG222TRP

N/A
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N/A
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Periodic paralysis hypokalemic 2 (HOKPP2)
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Swiss-Prot Disease: VAR_065230 

p.ARG225TRP

N/A
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N/A
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Myotonia SCN4A-related (MYOSCN4A)
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Swiss-Prot Disease: VAR_054936 

p.GLN270LYS

N/A
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N/A
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Paramyotonia congenita of von Eulenburg (PMC)
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Swiss-Prot Polymorphism: VAR_017785 
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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