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1 protein found in SwissVar (120 variants)

with gene/protein name P02545

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P02545 LMNA_HUMAN emery-dreifuss muscular dystrophy 2, autosomal dominant p.Arg25Pro
p.Arg25Gly
p.Glu33Gly
p.Leu35Val
p.Asn39Ser
p.Ala43Thr
p.Tyr45Cys
p.Arg50Pro
p.Arg50Ser
p.Ile63Ser
p.Ile63Asn
p.Glu65Gly
p.Arg133Pro
p.Leu140Pro
p.Thr150Pro
p.Arg189Pro
p.Arg190Gln
p.Phe206Leu
p.His222Tyr
p.His222Pro
p.Gly232Glu
p.Leu248Pro
p.Arg249Gln
p.Arg249Trp
p.Tyr259Cys
p.Tyr267Cys
p.Ser268Pro
p.Leu271Pro
p.Gln294Pro
p.Ser295Pro
p.Ser303Pro
p.Arg336Gln
p.Arg343Gln
p.Glu358Lys
p.Glu361Lys
p.Met371Lys
p.Arg377Leu
p.Arg377His
p.Arg386Lys
p.Arg401Cys
p.Asp446Val
p.Gly449Asp
p.Arg453Trp
p.Leu454Pro
p.Asn456Lys
p.Asn456Ile
p.Asp461Tyr
p.Trp467Arg
p.Ile469Thr
p.Tyr481His
p.Trp520Ser
p.Arg527Pro
p.Thr528Arg
p.Thr528Lys
p.Leu530Pro
p.Arg541His
p.Arg541Ser
p.Arg541Pro
p.Gly602Ser
p.Arg624His
p.Arg644Cys





























































P02545 LMNA_HUMAN emery-dreifuss muscular dystrophy 3, autosomal recessive p.Thr24Ser
p.Arg225Gln


P02545 LMNA_HUMAN cardiomyopathy, dilated 1a p.Arg60Gly
p.Leu85Arg
p.Arg89Leu
p.Leu92Phe
p.Lys97Glu
p.Arg101Pro
p.Ser143Pro
p.Glu161Lys
p.Arg166Pro
p.Arg190Trp
p.Arg190Gln
p.Asp192Gly
p.Asn195Lys
p.Glu203Lys
p.Glu203Gly
p.Ile210Ser
p.Leu215Pro
p.Glu317Lys
p.Ala318Thr
p.Arg349Leu
p.Arg388His
p.Arg399Cys
p.Arg435Cys
p.Arg471His
p.Gly523Arg
p.Arg541Cys
p.Arg541Ser
p.Ser573Leu




























P02545 LMNA_HUMAN lipodystrophy, familial partial, 2 p.Arg28Trp
p.Arg60Gly
p.Arg62Gly
p.Arg133Leu
p.Asp230Asn
p.Arg399Cys
p.Arg439Cys
p.Gly465Asp
p.Arg482Trp
p.Arg482Leu
p.Arg482Gln
p.Lys486Asn
p.Lys515Glu
p.Arg527Pro
p.Ser573Leu
p.Arg582His
















P02545 LMNA_HUMAN charcot-marie-tooth disease 2b1 p.Arg298Cys

P02545 LMNA_HUMAN hutchinson-gilford progeria syndrome p.Glu138Lys
p.Leu140Arg
p.Ser143Phe
p.Glu145Lys
p.Asp300Gly
p.Arg471Cys
p.Arg527Cys
p.Lys542Asn
p.Gly608Ser
p.Arg644Cys










P02545 LMNA_HUMAN cardiomyopathy, dilated, with hypergonadotropic hypogonadism p.Ala57Pro
p.Leu59Arg


P02545 LMNA_HUMAN mandibuloacral dysplasia with type p.Arg527His
p.Ala529Val
p.Ser573Leu



P02545 LMNA_HUMAN lethal tight skin contracture syndrome
P02545 LMNA_HUMAN heart-hand syndrome slovenian type
P02545 LMNA_HUMAN muscular dystrophy congenital lmna-related p.Asn39Ser
p.Arg50Pro
p.Arg249Trp
p.Leu302Pro
p.Glu358Lys
p.Leu380Ser
p.Arg453Pro
p.Arg455Pro
p.Asn456Asp









P02545 LMNA_HUMAN late-onset cardiocutaneous progeria syndrome characterized by cutaneous manifestations of aging appearing in the third decade of life, cardiac valve calcification and dysfunction, prominent atherosclerosis, and cardiomyopathy, leading to death on average in the fourth decade