Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323: 1205-1208, 2009 (PubMed ID: 19251627)

Mutations

FUS: (Gly174_Gly175del; delGG) (Gly175_Gly176ins; insGG) (Arg244Cys) (Arg514Ser,Gly515Cys) (His517Gln) (Arg518Lys) (Arg521Gly) (Arg521Cys) (Arg521His) (Arg522Gly) (Arg524Thr) (Arg524Ser) (Pro525Leu)

ID: 628


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


Selection:
Publication ID In (628)



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