Gene : LMNA

    

OMIM : 150330

    

UniProt : P02545

    

AmiGO : P02545

    

WT/mutant : Missense Mutation

    

Phenotype : Emery-Dreifuss muscular dystrophy 2, autosomal domit Emery-Dreifuss muscular dystrophy 3, autosomal recessive Heart-hand syndrome, Slovenian type Hutchinson-Gilford progeria Lipodystrophy, familial partial, type 2 Malouf syndrome Mandibuloacral dysplasia Muscular dystrophy, congenital Restrictive dermopathy 2 Cardiomyopathy, dilated, 1A Charcot-Marie-Tooth disease, type 2B1

Protein sequence ( length = 646 ) :

METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLPTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSY