Mutations in Hereditary Amyloidosis

Name (Protein Variant incl. 20-aa signal peptide)	Sequence Variant (mRNA)	Codon Change	Location	Reported Phenotype	Ethnic Group	References

 

Abbreviation Key:

AN = autonomic neuropathy;
CTS = carpal tunnel syndrome;
E = eye;
H = heart;
K = kidney;
L = liver;
LM = leptomeningeal;
N = neuropathy;
PN = polyneuropathy;
CNS = central nervous system