Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918094
rs121918094
TTR
0.030 GeneticVariation BEFREE Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient. 25488473

2015

dbSNP: rs121918094
rs121918094
TTR
0.030 GeneticVariation BEFREE Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047

1999

dbSNP: rs121918094
rs121918094
TTR
0.030 GeneticVariation BEFREE We found the following: (i) decreased secretion with intracellular aggregation of TTR L12P in hepatoma cells relative to WT and V30M variant; this differential property of TTR L12P variant was also observed in mice injected with L12P AAV vector; (ii) differential N-glycosylation pattern of L12P variant in hepatoma cell lysates, conditioned media and mouse sera, which might represent an escape mechanism from ERAD degradation; (iii) intracellular L12P TTR aggregates mainly localized to lysosomes in cultured cells and liver; and (iv) none of the above findings were present in choroid plexus derived cells, suggesting particular secretion/quality control mechanisms that might contribute to leptomeningeal amyloidosis associated with the L12P variant. 23579071

2013