Mutations in Hereditary Amyloidosis
Mutations in Cystatin 3 (CST3)
| Name (Protein Variant incl. 26-aa signal peptide) | Sequence Variant (mRNA) | Codon Change | Location | Reported Phenotype | Ethnic Group | References |
|---|---|---|---|---|---|---|
| Leu68Gln (p. Leu94Gln) | c.281 T>A | CTG>CAG | Exon 2 | Cerebral hemorrhage, Paralysis | Icelandic | Jensson (1987) ; Acta Neurol Scand |
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