Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Publications

Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, SorarĂ¹ G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. Journal of Medical Genetics 47: 190-194, 2010 (PubMed ID: 19861302)

Mutations

FUS: (Gly172_Gly175del) (Gly174_Gly175del; delGG) (Gly191Ser) (Arg216Cys) (Gly225Val) (Gly226Ser) (Gly229_Gly230delGG) (Gly228_Gly230delGGG) (Gly227_Gly230delGGGG) (Gly229_Gly230delGG) (Gly230delG) (Gly230_Tys231insG) (Gly230_Tys231insGG) (Gly229_Gly230delGG) (Gly230Cys) (Arg234Cys) (Gly507Asp) (Arg521Cys)

ID: 658


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic


Selection:
Publication ID In (658)



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