Mutation severity spectrum of rare alleles in the human genome is predictive of disease type
Fig 6
A) Mutation severity spectrum of ribosomal proteins functioning in the cytoplasm (orange bars) and in the mitochondria (green bars) measured by their numbers in GTS deciles. B). DeepSAV score distribution for 34 gnomAD SAVs of cytoplasmic ribosomal protein RPL23 (orange) and 89 gnomAD SAVs of mitochondrial ribosomal protein MRPL14. C) 60S ribosomal protein RPL23 from cytoplasm (PDB: 6ek0, chain LV) in orange cartoon has a single detrimental predicted SAV (red sphere). D) Mitochondrial 39S ribosomal protein MRPL14 (PDB 5oom, chain L) in green cartoon has multiple predicted detrimental SAVs.