Rs76992529

rs76992529, also known as V122I, Val122Ile, V142I or Val142Ile, is a mutation in the transthyretin TTR] gene. This risk allele for this SNP, [[rs76992529(A), is found primarily in people of African ancestry, and may be found in up to 4% of African-Americans.

A person with one or two copies of the (A) allele of this SNP is at significantly higher (by about 2 - 3 fold) risk of developing cardiac amyloidosis, in which levels of the transthyretin protein build up and can lead to heart failure, especially with increasing age. Letter: Diagnosis of neuronal ceroid lipofuscinosis by electron microscopy of urinary sediment.

Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant.

The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.

Medical errors on an inpatient neurology service.

The hereditary amyloidoses.

Genetic microheterogeneity of human transthyretin detected by IEF.