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Mutations on the Protein: P02545 From Positions: 33 To 66

16
13
0
3


Swiss-Prot Disease: VAR_017656
p.ALA57PRO
N/A
N/A
Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH)


Swiss-Prot Disease: VAR_039753
p.ALA43THR
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_034706
p.ARG60GLY
N/A
N/A
Lipodystrophy, familial partial, 2 (FPLD2)


Swiss-Prot Disease: VAR_039755
p.ARG62GLY
N/A
N/A
Lipodystrophy, familial partial, 2 (FPLD2)


Swiss-Prot Disease: VAR_009972
p.ARG50PRO
N/A
N/A
Muscular dystrophy congenital LMNA-related (MDCL)


Swiss-Prot Disease: VAR_039754
p.ARG50SER
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_063588
p.ASN39SER
N/A
N/A
Muscular dystrophy congenital LMNA-related (MDCL)


Swiss-Prot Disease: VAR_039757
p.GLU65GLY
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_039756
p.ILE63ASN
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_009974
p.ILE63SER
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_064055
p.LEU59ARG
N/A
N/A
Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH)


Swiss-Prot Disease: VAR_039752
p.LEU35VAL
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_009971
p.TYR45CYS
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


OMIM Disease: 150330.0030
p.ALA57PRO
N/A
N/A
CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM


OMIM Disease: 150330.0005
p.ARG60GLY
N/A
N/A
CARDIOMYOPATHY, DILATED, 1A||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED


OMIM Disease: 150330.0052
p.LEU59ARG
N/A
N/A
CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM






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