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Mutations on the Protein: P02545 From Positions: 531 To 564

7
5
0
2


Swiss-Prot Polymorphism: VAR_039786
p.ARG541CYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_039787
p.ARG541HIS
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_064975
p.ARG541PRO
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_039788
p.ARG541SER
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_034710
p.LYS542ASN
N/A
N/A
Hutchinson-Gilford progeria syndrome (HGPS)


OMIM Disease: 150330.0053
p.ARG541GLY
N/A
N/A
CARDIOMYOPATHY, DILATED, 1A


OMIM Disease: 150330.0033
p.LYS542ASN
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY






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