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Table 1 ATTR-FAP linked genetic mutations in Japan

From: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm

Main symptoms Genetic mutations
Peripheral neuropathy Ala25Ser, Val30Leu, Phe33Val, Asp38Ala, Glu42Gly, Phe44Ser, Gly47Arg, Gly47Val, Thr49Ile, Thr49Ala, Ser50Arg, Glu54Lys, Leu55Pro, Glu61Lys, Val71Ala, Ser77Tyr, Ala97Gly, Ala109Ser, Val28Ser, Val28Met, Ala36Pro, Ile84Asn, His88Arg, Ala120Ser
CTS + peripheral neuropathy Leu58Arg, Tyr69Ile, Ile107Val, Tyr114His, Ala120Ser, Ala120Thr
Cardiac Asp18Glu, Ala36Asp, Ala45Asp, Ser50Ile, Thr59Arg, Thr60Ala, Glu89Lys, Gln92Lys, Val94Gly, Asp38Ala, Ser50Arg, Val122Ile, Glu89Gln, Pro24Ser, Val30Leu
Leptomeningeal Ala25Thr, Gly53Glu, Tyr114Cys, Asp18Gly, Tyr69His
Non-pathologic Arg104His
Compound heterozygosity Val30Met/Arg104His
  1. ATTR-FAP Transthyretin familial amyloid polyneuropathy, CTS Carpal tunnel syndrome