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Mutations on the Protein: P35499 From Positions: 643 To 734

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Swiss-Prot Disease: VAR_054940
p.ALA715THR
N/A
N/A
Myotonia SCN4A-related (MYOSCN4A)


Swiss-Prot Disease: VAR_054939
p.ARG672CYS
N/A
N/A
Periodic paralysis hypokalemic 2 (HOKPP2)


Swiss-Prot Disease: VAR_037105
p.ARG675GLN
N/A
N/A
Periodic paralysis normokalemic (NKPP)


Swiss-Prot Disease: VAR_017789
p.ARG672GLY
N/A
N/A
Periodic paralysis hypokalemic 2 (HOKPP2)


Swiss-Prot Disease: VAR_037104
p.ARG675GLY
N/A
N/A
Periodic paralysis normokalemic (NKPP)


Swiss-Prot Disease: VAR_017788
p.ARG669HIS
N/A
N/A
Periodic paralysis hypokalemic 2 (HOKPP2)


Swiss-Prot Disease: VAR_017790
p.ARG672HIS
N/A
N/A
Periodic paralysis hypokalemic 2 (HOKPP2)


Swiss-Prot Disease: VAR_017791
p.ARG672SER
N/A
N/A
Periodic paralysis hypokalemic 2 (HOKPP2)


Swiss-Prot Disease: VAR_037106
p.ARG675TRP
N/A
N/A
Periodic paralysis normokalemic (NKPP)


Swiss-Prot Disease: VAR_065231
p.ILE693THR
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_054938
p.PHE671SER
N/A
N/A
Myotonia SCN4A-related (MYOSCN4A)


Swiss-Prot Disease: VAR_001562
p.THR704MET
N/A
N/A
Periodic paralysis hyperkalemic (HYPP)


OMIM Disease: 603967.0023
p.ARG675GLN
N/A
N/A
NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE


OMIM Disease: 603967.0017
p.ARG672GLY
N/A
N/A
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2


OMIM Disease: 603967.0022
p.ARG675GLY
N/A
N/A
NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE


OMIM Disease: 603967.0015
p.ARG669HIS
N/A
N/A
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2


OMIM Disease: 603967.0016
p.ARG672HIS
N/A
N/A
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2


OMIM Disease: 603967.0020
p.ARG672SER
N/A
N/A
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2


OMIM Disease: 603967.0024
p.ARG675TRP
N/A
N/A
NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE


OMIM Disease: 603967.0028
p.ILE693THR
N/A
N/A
PARAMYOTONIA CONGENITA


OMIM Disease: 603967.0001
p.THR704MET
N/A
N/A
HYPERKALEMIC PERIODIC PARALYSIS||PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS, INCLUDED






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