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Mutations on the Protein: P25189 From Positions: 124 To 136

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Swiss-Prot Disease: VAR_015978
p.ASN131LYS
N/A
N/A
Roussy-Levy syndrome (ROULS)


Swiss-Prot Disease: VAR_004533
p.ASP128ASN
N/A
N/A
Dejerine-Sottas syndrome (DSS)


Swiss-Prot Disease: VAR_004537
p.ASP134ASN
N/A
N/A
Charcot-Marie-Tooth disease 1B (CMT1B)


Swiss-Prot Disease: VAR_004532
p.ASP128GLU
N/A
N/A
Charcot-Marie-Tooth disease 1B (CMT1B)


Swiss-Prot Disease: VAR_004536
p.ASP134GLU
N/A
N/A
Charcot-Marie-Tooth disease 1B (CMT1B)


Swiss-Prot Disease: VAR_029979
p.ASP134GLY
N/A
N/A
Charcot-Marie-Tooth disease 1B (CMT1B)


Swiss-Prot Disease: VAR_004531
p.CYS127TYR
N/A
N/A
Dejerine-Sottas syndrome (DSS)


Swiss-Prot Disease: VAR_004538
p.ILE135LEU
N/A
N/A
Dejerine-Sottas syndrome (DSS)


Swiss-Prot Disease: VAR_004539
p.ILE135THR
N/A
N/A
Charcot-Marie-Tooth disease 1B (CMT1B)


Swiss-Prot Disease: VAR_004534
p.LYS130ARG
N/A
N/A
Dejerine-Sottas syndrome (DSS)


Swiss-Prot Disease: VAR_004535
p.PRO132LEU
N/A
N/A
Charcot-Marie-Tooth disease 1B (CMT1B)


Swiss-Prot Disease: VAR_029978
p.THR124LYS
N/A
N/A
Neuropathy, congenital hypomyelinating or amyelinating (CHN)


Swiss-Prot Disease: VAR_004529
p.THR124MET
N/A
N/A
Charcot-Marie-Tooth disease 2J (CMT2J)


Swiss-Prot Disease: VAR_015979
p.VAL136GLU
N/A
N/A
Dejerine-Sottas syndrome (DSS)


OMIM Disease: 159440.0021
p.ASN131LYS
N/A
N/A
ROUSSY-LEVY SYNDROME


OMIM Disease: 159440.0007
p.ILE135THR
N/A
N/A
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B


OMIM Disease: 159440.0031
p.THR124LYS
N/A
N/A
NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT


OMIM Disease: 159440.0016
p.THR124MET
N/A
N/A
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, INCLUDED






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