Home News About DMDM Database Statistics Research Publications Contact  

Mutations on the Protein: P35499 From Positions: 1377 To 1469

12
7
0
5



Swiss-Prot Disease: VAR_001572
p.ARG1448CYS
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_001573
p.ARG1448HIS
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_054948
p.ARG1448LEU
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_037107
p.GLY1456GLU
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_001571
p.LEU1433ARG
N/A
N/A
Periodic paralysis hyperkalemic (HYPP)


Swiss-Prot Disease: VAR_054947
p.LEU1436PRO
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


Swiss-Prot Disease: VAR_017795
p.VAL1442GLU
N/A
N/A
Myasthenic syndrome, congenital, acetazolamide-responsive (CMSAR)


OMIM Disease: 603967.0003
p.ARG1448CYS
N/A
N/A
PARAMYOTONIA CONGENITA


OMIM Disease: 603967.0004
p.ARG1448HIS
N/A
N/A
PARAMYOTONIA CONGENITA


OMIM Disease: 603967.0019
p.GLY1456GLU
N/A
N/A
PARAMYOTONIA CONGENITA


OMIM Disease: 603967.0011
p.LEU1433ARG
N/A
N/A
PARAMYOTONIA CONGENITA


OMIM Disease: 603967.0018
p.VAL1442GLU
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE






   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258