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Mutations on the Protein: P02545 From Positions: 432 To 465

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2


Swiss-Prot Disease: VAR_039779
p.ARG435CYS
N/A
N/A
Cardiomyopathy, dilated 1A (CMD1A)


Swiss-Prot Disease: VAR_070181
p.ARG439CYS
N/A
N/A
Lipodystrophy, familial partial, 2 (FPLD2)


Swiss-Prot Disease: VAR_063592
p.ARG453PRO
N/A
N/A
Muscular dystrophy congenital LMNA-related (MDCL)


Swiss-Prot Disease: VAR_063593
p.ARG455PRO
N/A
N/A
Muscular dystrophy congenital LMNA-related (MDCL)


Swiss-Prot Disease: VAR_009988
p.ARG453TRP
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_063594
p.ASN456ASP
N/A
N/A
Muscular dystrophy congenital LMNA-related (MDCL)


Swiss-Prot Disease: VAR_039781
p.ASN456ILE
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_039782
p.ASN456LYS
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_064973
p.ASP461TYR
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_039780
p.ASP446VAL
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_064971
p.GLY449ASP
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_064972
p.LEU454PRO
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


OMIM Disease: 150330.0002
p.ARG453TRP
N/A
N/A
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT


OMIM Disease: 150330.0044
p.VAL440MET
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL






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