Name (Protein Variant incl. 20-aa signal peptide) | Sequence Variant (mRNA) | Codon Change | Location | Reported Phenotype | Ethnic Group | References |
---|---|---|---|---|---|---|
Asp76Asn (p.Asp96Asn) | c.286 G>A | GAT>AAT | Exon 2 | GI tract involvement, Autonomic neuropathy, Sicca syndrome | French | Valleix S (2012) N Engl J Med 14;366(24):2276-83 |
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