TTR FGA APOA1 APOA2 LYZ GSN B2M Cystatin Home Back

 

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>ACTG>CAGExon 2Cerebral hemorrhage, ParalysisIcelandic 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