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Mutations on the Protein: P02545 From Positions: 465 To 498

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10
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6


Swiss-Prot Disease: VAR_017662
p.ARG471CYS
N/A
N/A
Hutchinson-Gilford progeria syndrome (HGPS)


Swiss-Prot Disease: VAR_009992
p.ARG482GLN
N/A
N/A
Lipodystrophy, familial partial, 2 (FPLD2)


Swiss-Prot Disease: VAR_070182
p.ARG471HIS
N/A
N/A
Cardiomyopathy, dilated 1A (CMD1A)


Swiss-Prot Disease: VAR_009991
p.ARG482LEU
N/A
N/A
Lipodystrophy, familial partial, 2 (FPLD2)


Swiss-Prot Disease: VAR_009993
p.ARG482TRP
N/A
N/A
Lipodystrophy, familial partial, 2 (FPLD2)


Swiss-Prot Disease: VAR_009989
p.GLY465ASP
N/A
N/A
Lipodystrophy, familial partial, 2 (FPLD2)


Swiss-Prot Disease: VAR_009990
p.ILE469THR
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_009994
p.LYS486ASN
N/A
N/A
Lipodystrophy, familial partial, 2 (FPLD2)


Swiss-Prot Disease: VAR_064974
p.TRP467ARG
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_039783
p.TYR481HIS
N/A
N/A
Limb-girdle muscular dystrophy 1B (LGMD1B)


OMIM Disease: 150330.0025
p.ARG471CYS
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL


OMIM Disease: 150330.0010
p.ARG482GLN
N/A
N/A
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2


OMIM Disease: 150330.0012
p.ARG482LEU
N/A
N/A
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2


OMIM Disease: 150330.0011
p.ARG482TRP
N/A
N/A
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2


OMIM Disease: 150330.0038
p.GLN493TER
N/A
N/A
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B


OMIM Disease: 150330.0015
p.GLY465ASP
N/A
N/A
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2






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