Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Brown SP, Graff-Radford N, Uitti R, Dickson D, Wzsolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Human Molecular Genetics 15: 2988-3001, 2006 (PubMed ID: 16950801)

Mutations

GRN: (Met1) (Ala9Asp) (Arg19Trp) (Asp22fs) (Cys31fs) (Asp33) (Gly35fs) (IVS2+1G>A) (Thr52fs) (Gly79fs) (Glu88) (Cys105Arg) (Asp128) (Gln130fs) (Ala155fs) (Ser226fs) (Asn236) (Val200fs) (Cys253X) (Val279fs;IVS8-1G>C) (Glu287Asp) (Ser301) (Trp304fs) (Trp304X) (Val279fs) (Ala324Thr) (Gly333fs) (Thr382fs) (Trp386X) (Arg418X) (Arg418Gln) (Arg433Trp) (Cys466fs) (Cys474) (Arg493X) (Gly515Ala)

ID: 407

van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Human Mutation 28: 416, 2007 (PubMed ID: 17345602)

Mutations

GRN: (Asp33) (Pro34) (Gly93) (Ser106Asn) (Asp128) (Cys158Tyr) (Arg212Gln) (Thr220Ser) (Pro248Leu) (Ser258Asn) (Leu261Ile) (Thr268) (Ser301) (Lys332) (Arg418Gln) (Arg432Cys) (Arg433Trp) (Pro470Leu) (Cys475) (Cys495) (Gly515Ala) (Val550Ile) (Cys565)

ID: 441

Schymick J, Yang Y, Andersen P, Vonsattel J, Greenway M, Momeni P, Elder J, Chio A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli R, Hutton M, Gass J, Cannon A, Rademakers R, Singleton A, Hardiman O, Rothstein J, Hardy J, Traynor B. Progranulin mutations and ALS or ALS-FTD phenotypes. Journal of Neurology, Neurosurgery and Psychiatry 78: 754-756, 2007 (PubMed ID: 17371905)

Mutations

GRN: (Arg19Trp) (Asp33) (Ser120Tyr) (Val141Ile) (Thr182Met) (Ala324Thr) (Pro392) (Arg433Trp) (Pro458Leu) (Arg556Cys)

ID: 437

Le Ber I, van der Zee J, Hannequin D, Gijselinck I, Campion D, Puel M, Laquerriere A, De Pooter T, Camuzat A, Van den Broeck M, Dubois B, Sellal F, Lacomblez L, Vercelletto M, Thomas-Anterion C, Michel BF, Golfier V, Didic M, Salachas F, Duyckaerts C, Cruts M, Verpillat P, Van Broeckhoven C, Brice A. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Human Mutation 28: 846-855, 2007 (PubMed ID: 17436289)

Mutations

GRN: (IVS1+3A>T) (Asp33) (Pro34) (Val121fs) (Gln130fs) (Cys157fs) (Val200fs; IVS7+1G>A) (Pro248Leu) (Ser258Asn) (Cys314X) (Cys366fs) (Gln401X) (Ala412fs) (Arg418Gln) (Arg432Cys) (Cys565)

ID: 438

Mukherjee O, Wang J, Gitcho M, Chakraverty S, Taylor-Reinwald L, Shears S, Kauwe JS, Norton J, Levitch D, Bigio EH, Hatanpaa KJ, White CL, Morris JC, Cairns NJ, Goate A. Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. Human Mutation 29: 512-521, 2008 (PubMed ID: 18183624)

Mutations

GRN: (Ala9Asp) (Asp33) (Ala237fs) (Arg433Gln)

ID: 502

Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P, van Vught PW, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg LH, Robberecht W, Van Broeckhoven C. Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology 71: 253-259, 2008 (PubMed ID: 18184915)

Mutations

GRN: (Asp33) (Arg110Gln) (Ile124Thr) (Asp128) (Thr138) (Thr268) (Ser301) (Ala324Thr) (Arg418Gln) (His447)

ID: 519

Cortini F, Fenoglio C, Guidi I, Venturelli E, Pomati S, Marcone A, Scalabrini D, Villa C, Clerici F, Dalla Valle E, Mariani C, Cappa S, Bresolin N, Scarpini E, Galimberti D. Novel exon 1 progranulin gene variant in Alzheimer's disease. European Journal of Neurology 15: 1111-1117, 2008 (PubMed ID: 18752597)

Mutations

GRN: (Asp33) (Gly35Arg)

ID: 540

Chiang HH, Rosvall L, Brohede J, Axelman K, Björk BF, Nennesmo I, Robins T, Graff C. Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family. Alzheimer's & Dementia 4: 414-420, 2008 (PubMed ID: 19012866)

Mutations

GRN: (Asp33) (Gly35fs)

ID: 566

Guerreiro RJ, Washecka N, Hardy J, Singleton A. A thorough assessment of benign genetic variability in GRN and MAPT. Human Mutation 31: E1126-E1140, 2010 (PubMed ID: 20020531)

Mutations

GRN: (Leu14) (Arg19Trp) (Asp33) (Arg55Trp) (Ala69Thr) (Thr76) (Ala89) (Asp108) (Asn119del) (Ser120Tyr) (Asp128) (Pro134) (Ala169) (Thr182Met) (Thr182) (Cys221Ser) (Ser262) (Asp376Asn) (Ser398Leu) (Thr409) (Arg433Gln) (Ala505) (Gly515Ala) (Asp518) (Arg564His) (Cys565)
MAPT: (His14) (Thr17Met) (Tyr18) (Thr30Ala) (Pro200) (Ala227) (Asn255) (Leu266) (Pro270) (Val300Ile)

ID: 641

Del Bo R, Corti S, Santoro D, Ghione I, Fenoglio C, Ghezzi S, Ranieri M, Galimberti D, Mancuso M, Siciliano G, Briani C, Murri L, Scarpini E, Schymick JC, Traynor BJ, Bresolin N, Comi GP. No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort. Neurobiology of Aging 32: 1157-1158, 2011 (PubMed ID: 19632744)

Mutations

GRN: (Arg19Trp) (Asp33) (Ser120Tyr) (Asp128) (Asp518)

ID: 615