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

Mesulam M, Johnson N, Krefft TA, Gass JM, Cannon AD, Adamson JL, Bigio EH, Weintraub S, Dickson DW, Hutton ML, Graff-Radford NR. Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. Archives of Neurology 64: 43-47, 2007 (PubMed ID: 17210807)

Mutations

GRN: (Gly333fs) (Arg493X)

ID: 423

Kelley BJ, Haidar W, Boeve BF, Baker M, Graff-Radford NR, Krefft T, Frank AR, Jack CR Jr, Shiung M, Knopman DS, Josephs KA, Parashos SA, Rademakers R, Hutton M, Pickering-Brown S, Adamson J, Kuntz KM, Dickson DW, Parisi JE, Smith GE, Ivnik RJ, Petersen RC. Prominent phenotypic variability associated with mutations in Progranulin. Neurobiology of Aging 30: 739-751, 2009 (PubMed ID: 17949857)

Mutations

GRN: (Ala9Asp) (IVS2+1G>A) (Thr52fs) (Trp304fs) (Gly333fs) (Thr382fs) (Cys466fs) (Arg493X)

ID: 504