Mutations on the Protein: P35499 From Positions: 734 To 826
Swiss-Prot Disease: VAR_054942 

p.SER804ASN

N/A
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N/A
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Myotonia SCN4A-related (MYOSCN4A)
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Swiss-Prot Disease: VAR_001563 

p.SER804PHE

N/A
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N/A
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Paramyotonia congenita of von Eulenburg (PMC)
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Swiss-Prot Disease: VAR_054941 

p.VAL781ILE

N/A
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N/A
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Periodic paralysis normokalemic (NKPP)
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OMIM Disease: 603967.0006 

p.SER804PHE

N/A
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N/A
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PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA||MYOTONIA FLUCTUANS, INCLUDED
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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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