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Mutations on the Protein: P25189 From Positions: 112 To 124

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3






Swiss-Prot Disease: VAR_004526
p.ASN116HIS
N/A
N/A
Dejerine-Sottas syndrome (DSS)


Swiss-Prot Disease: VAR_004528
p.ASN122SER
N/A
N/A
Charcot-Marie-Tooth disease 1B (CMT1B)


Swiss-Prot Disease: VAR_021609
p.ASP118ASN
N/A
N/A
Charcot-Marie-Tooth disease 2I (CMT2I)


Swiss-Prot Disease: VAR_015977
p.GLY123CYS
N/A
N/A
Dejerine-Sottas syndrome (DSS)


Swiss-Prot Disease: VAR_004524
p.ILE112THR
N/A
N/A
Charcot-Marie-Tooth disease 1B (CMT1B)


Swiss-Prot Disease: VAR_004525
p.ILE114THR
N/A
N/A
Dejerine-Sottas syndrome (DSS)


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 Polymorphism: VAR_031891
p.TYR119CYS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_029977
p.VAL113ILE
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_031890
p.VAL113PHE
N/A
N/A
N/A


OMIM Disease: 159440.0033
p.GLY123SER
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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