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Mutations in Beta-2-microglobulin Gene (B2M)

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>AGAT>AATExon 2GI tract involvement, Autonomic neuropathy, Sicca syndromeFrench 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