Mutations in Hereditary Amyloidosis
Mutations in Transthyretin Gene (TTR)
| Name (Protein Variant incl. 20-aa signal peptide) | Sequence Variant (mRNA) | Codon Change | Location | Reported Phenotype | Ethnic Group | References |
|---|---|---|---|---|---|---|
| Thr60Ile (p.Thr80Ile) | c.239C>T | ACT>ATT | Exon 3 | H, PN, E | Caucasian | Personal communication from Dr Barry Trachtenberg |
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