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Mutations on the Protein: P02545 From Positions: 498 To 531

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Swiss-Prot Disease: VAR_034709
p.ALA529VAL
N/A
N/A
Mandibuloacral dysplasia with type A lipodystrophy (MADA)


Swiss-Prot Disease: VAR_017663
p.ARG527CYS
N/A
N/A
Hutchinson-Gilford progeria syndrome (HGPS)


Swiss-Prot Disease: VAR_018727
p.ARG527HIS
N/A
N/A
Mandibuloacral dysplasia with type A lipodystrophy (MADA)


Swiss-Prot Disease: VAR_009995
p.ARG527PRO
N/A
N/A
Lipodystrophy, familial partial, 2 (FPLD2)


Swiss-Prot Disease: VAR_067258
p.GLY523ARG
N/A
N/A
Cardiomyopathy, dilated 1A (CMD1A)


Swiss-Prot Disease: VAR_009997
p.LEU530PRO
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_039785
p.THR528ARG
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_009996
p.THR528LYS
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_039784
p.TRP520SER
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


OMIM Disease: 150330.0046
p.ALA529THR
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


OMIM Disease: 150330.0037
p.ALA529VAL
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


OMIM Disease: 150330.0026
p.ARG527CYS
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


OMIM Disease: 150330.0021
p.ARG527HIS
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUD


OMIM Disease: 150330.0003
p.ARG527PRO
N/A
N/A
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED


OMIM Disease: 150330.0004
p.LEU530PRO
N/A
N/A
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT






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