Three Human Genes in Which Specific Mutations in the Consensus−1 Ribosomal Frameshifting Signals Have Been Linked to Disease
| Description | Diseases and allelic variants[i] |
| ETFA-electron transfer flavoprotein α-subunit precursor | type II glutaricaciduria. Allelic variant 0.0004 (Val-270DEL3bp) disrupts the spacing between the slippery site and the RNA pseudoknot. |
| Triacylglycerol lipase | lipoprotein lipase deficiency. Allelic variant 0.0027 (Arg-75Ser) disrupts stem 1 of the RNA pseudoknot. |
| familial chylomicronemia syndrome. Allelic variant 0.0021 (Trp-86Arg) disrupts stem 2 of the RNA pseudoknot. | |
| FASL receptor | autoimmune lymphoproliferative syndrome. Allelic variant 0.0007 (Tyr-216Cys) disrupts stem 2 in the RNA pseudoknot. |
[i] The human diseases that are known or thought to be linked to these genes. References to these can be found in the Online Mendelian Inheritance in Man (OMIM) database (http://www3.ncbi.nlm.nih.gov/Omim/searchomim.html).