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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