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©2013 UpToDate ® Print Email Mutations/polymorphisms that have been associated with heritable and acquired forms of amyloidosis, 2012 Subunit proteins Subunit proteins Number of mutations shown Transthyretin (TTR) >100 Prion protein (PrP) >20 Alzheimer precursor protein (APP) 32 Bri2 2 Lysozyme (Lys) 6 Apolipoprotein AI (ApoAI) 19 Apolipoprotein AII (ApoAII) 5 Fibrinogen Aα 9 Gelsolin 2 Cystatin C 1 Keratoepithelin/TGF1B1 >40 Beta-2 microglobulin 1 Tumor-associated Ca signal transducer 2 21 Polymorphisms Polymorphisms Number of mutations shown SAA1/SAA2 5/2 Apo E4/E2 Other Other Number of mutations shown Pyrin (MEFV) >60 Cryopyrin (CIAS1) 65 TRAPS (TNFR1) >60 Mevalonate kinase (MVK) >75 Presenilin-1 (PS-1)/presenilin-2 (PS-2) 185/13 Data obtained from resources listing mutations associated with systemic amyloidosis ( www.amyloidosismutations.com ), autoinflammatory diseases ( file://fmf.igh.cnrs.fr/ISSAID/infevers ), and Alzheimers and related neurodegenerative disorders ( www.molgen.ua.ac.be/ADMutations ). Courtesy of Peter D Gorevic, MD.