Systemic Lupus Erythematosis
Autoimmune; U1 RNA (snRNP); Sx: extreme fatigue, arthritis, fever, skin rashes, kidney problems
Limb girdle muscular dystrophy (LGMD)
Calpain 3 mutation causing new splice site w/in Exon 16 -> Splicesome removes Exon 16
β-thalassemia
Mutation of 1st position of Intron 2; G->A mutations, thus Exon 1 is spliced out; microcytic hypochromic anemia
Trypanosomes (Chagas disease)
Protozoal DNA causes insertion of U into DNA via terminal uridyltransferase; protozoa edits its own mitochondrial DNA
Leishmania (leishmaniasis)
RNA editing