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Mutations on the Protein: P35499 From Positions: 1285 To 1377

14
7
1
6



dbSNP Polymorphism: rs2058194
p.ASN1376ASP
N/A
N/A


Swiss-Prot Disease: VAR_054945
p.ASN1297LYS
N/A
N/A
Myotonia SCN4A-related (MYOSCN4A)


Swiss-Prot Disease: VAR_001567
p.GLY1306ALA
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_001568
p.GLY1306GLU
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_001569
p.GLY1306VAL
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_054946
p.ILE1310ASN
N/A
N/A
Myotonia SCN4A-related (MYOSCN4A)


Swiss-Prot Disease: VAR_001570
p.THR1313MET
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_001566
p.VAL1293ILE
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


OMIM Disease: 603967.0027
p.ASN1297LYS
N/A
N/A
PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS


OMIM Disease: 603967.0012
p.GLY1306ALA
N/A
N/A
MYOTONIA FLUCTUANS


OMIM Disease: 603967.0025
p.GLY1306GLU
N/A
N/A
MYOTONIA PERMANENS


OMIM Disease: 603967.0007
p.GLY1306VAL
N/A
N/A
PARAMYOTONIA CONGENITA||MYOTONIA, POTASSIUM-AGGRAVATED, INCLUDED


OMIM Disease: 603967.0008
p.THR1313MET
N/A
N/A
PARAMYOTONIA CONGENITA


OMIM Disease: 603967.0013
p.VAL1293ILE
N/A
N/A
PARAMYOTONIA CONGENITA






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