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Mutations on the Protein: P35499 From Positions: 1102 To 1193

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Swiss-Prot Disease: VAR_022341
p.ALA1152ASP
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_001565
p.ALA1156THR
N/A
N/A
Periodic paralysis hyperkalemic (HYPP)


Swiss-Prot Disease: VAR_064987
p.ARG1129GLN
N/A
N/A
Periodic paralysis normokalemic (NKPP)


Swiss-Prot Disease: VAR_054943
p.ARG1132GLN
N/A
N/A
Periodic paralysis hypokalemic 2 (HOKPP2)


Swiss-Prot Disease: VAR_054944
p.ARG1135HIS
N/A
N/A
Periodic paralysis hypokalemic 2 (HOKPP2)


Swiss-Prot Disease: VAR_017793
p.ILE1160VAL
N/A
N/A
Myotonia SCN4A-related (MYOSCN4A)


Swiss-Prot Disease: VAR_017792
p.PRO1158SER
N/A
N/A
Periodic paralysis hypokalemic 2 (HOKPP2)


OMIM Disease: 603967.0005
p.ALA1156THR
N/A
N/A
PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS


OMIM Disease: 603967.0030
p.ARG1132GLN
N/A
N/A
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2


OMIM Disease: 603967.0010
p.ILE1160VAL
N/A
N/A
MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE


OMIM Disease: 603967.0021
p.PRO1158SER
N/A
N/A
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2






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