MRPS22
mitochondrial ribosomal protein S22
Summary
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]
Known Variants150 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144902770 | 3:139,062,874 | G/A | — | conflicting classifications of pathogenicity |
| rs767937958 | 3:139,062,878 | C/T | — | uncertain significance |
| rs776015225 | 3:139,062,880 | C/G | — | likely benign |
| rs761146333 | 3:139,062,884 | A/G | — | uncertain significance |
| rs1419760605 | 3:139,062,889 | T/C | — | likely benign |
| rs148997212 | 3:139,062,895 | G/C | — | likely benign |
| rs754764412 | 3:139,062,901 | G/A | — | pathogenic |
| rs1176249861 | 3:139,062,932 | C/G | — | uncertain significance |
| rs775817202 | 3:139,062,933 | G/C | — | uncertain significance |
| rs772766573 | 3:139,062,958 | G/A | — | conflicting classifications of pathogenicity |
| rs762501619 | 3:139,062,961 | C/G | — | likely benign |
| rs1467055834 | 3:139,063,005 | T/C | — | uncertain significance |
| rs777835541 | 3:139,063,009 | G/T | — | likely benign |
| rs1044777795 | 3:139,063,016 | C/T | — | uncertain significance |
| rs757392815 | 3:139,063,017 | G/T | — | uncertain significance |
| rs746117719 | 3:139,063,029 | G/T | — | uncertain significance |
| rs1057269467 | 3:139,063,034 | G/A | — | uncertain significance |
| rs150629747 | 3:139,063,039 | C/T | — | uncertain significance |
| rs777163637 | 3:139,063,047 | G/T | — | conflicting classifications of pathogenicity |
| rs374112977 | 3:139,063,051 | T/C | — | conflicting classifications of pathogenicity |
| rs773674470 | 3:139,063,058 | C/T | — | likely benign |
| rs74877536 | 3:139,063,119 | G/A | — | benign |
| rs115057066 | 3:139,063,272 | G/A | — | likely benign |
| rs139438591 | 3:139,063,516 | C/T | — | likely benign |
| rs59960641 | 3:139,065,429 | G/A | — | benign |
| rs2107787249 | 3:139,065,702 | T/C | — | likely benign |
| rs760358192 | 3:139,065,706 | A/G | — | likely benign |
| rs11556243 | 3:139,065,748 | A/G | — | likely benign |
| rs142519311 | 3:139,065,755 | T/C | — | uncertain significance |
| rs781621580 | 3:139,065,760 | G/T | — | uncertain significance |
| rs1426327322 | 3:139,065,774 | A/G | — | uncertain significance |
| rs200542439 | 3:139,065,779 | A/G | — | uncertain significance |
| rs1941049024 | 3:139,065,795 | C/G | — | uncertain significance |
| rs73866065 | 3:139,065,830 | A/G | — | uncertain significance |
| rs369598731 | 3:139,065,849 | C/T | — | uncertain significance |
| rs973338617 | 3:139,065,865 | G/A | — | uncertain significance |
| rs150391961 | 3:139,065,868 | T/C | — | likely benign |
| rs138148950 | 3:139,065,874 | A/G | — | conflicting classifications of pathogenicity |
| rs372691699 | 3:139,065,890 | C/T | — | likely benign |
| rs1610195 | 3:139,065,988 | C/T | — | benign |
| rs2307030 | 3:139,066,061 | A/G | — | benign |
| rs7643153 | 3:139,066,176 | C/T | — | likely benign |
| rs10755092 | 3:139,066,902 | A/T | — | benign |
| rs116349764 | 3:139,066,930 | T/C | — | likely benign |
| rs377459479 | 3:139,066,988 | T/A | — | conflicting classifications of pathogenicity |
| rs371203445 | 3:139,067,025 | A/G | — | likely benign |
| rs780703525 | 3:139,067,035 | C/T | — | pathogenic |
| rs563691172 | 3:139,067,036 | G/A | — | uncertain significance |
| rs149574950 | 3:139,067,040 | A/G | — | likely benign |
| rs774237195 | 3:139,067,066 | G/A | — | conflicting classifications of pathogenicity |
| rs2472854474 | 3:139,067,095 | G/T | — | uncertain significance |
| rs1054854502 | 3:139,067,107 | G/A | — | uncertain significance |
| rs1250398879 | 3:139,067,117 | A/G | — | uncertain significance |
| rs1329628592 | 3:139,067,119 | A/C | — | uncertain significance |
| rs2472854555 | 3:139,067,130 | T/C | — | likely benign |
| rs2472854585 | 3:139,067,141 | A/T | — | uncertain significance |
| rs201337850 | 3:139,067,151 | T/G | — | pathogenic |
| rs2107788084 | 3:139,067,155 | A/G | — | uncertain significance |
| rs544369132 | 3:139,067,164 | C/T | missense variant | pathogenic |
| rs765657972 | 3:139,067,165 | G/A | — | uncertain significance |
| rs752246508 | 3:139,067,184 | C/T | — | likely benign |
| rs755818329 | 3:139,067,185 | G/A | — | likely benign |
| rs77869711 | 3:139,067,258 | C/T | — | benign |
| rs17394620 | 3:139,067,383 | A/G | — | benign |
| rs149021264 | 3:139,068,980 | G/A | — | likely benign |
| rs948280864 | 3:139,069,024 | C/T | — | uncertain significance |
| rs119478059 | 3:139,069,025 | G/A | missense variant | pathogenic |
| rs867193053 | 3:139,069,036 | G/A | — | uncertain significance |
| rs141721636 | 3:139,069,039 | A/G | — | uncertain significance |
| rs1339160604 | 3:139,069,045 | C/A | — | uncertain significance |
| rs753506675 | 3:139,069,056 | A/C | — | likely benign |
| rs778642922 | 3:139,069,060 | C/T | — | uncertain significance |
| rs746881295 | 3:139,069,087 | C/T | — | pathogenic |
| rs768880732 | 3:139,069,088 | G/A | — | uncertain significance |
| rs776794459 | 3:139,069,090 | A/G | — | uncertain significance |
| rs748386059 | 3:139,069,095 | A/T | — | likely benign |
| rs1941120713 | 3:139,069,116 | A/C | — | uncertain significance |
| rs537942799 | 3:139,069,120 | C/T | — | uncertain significance |
| rs753345594 | 3:139,069,121 | G/A | — | conflicting classifications of pathogenicity |
| rs76148008 | 3:139,069,133 | C/T | — | conflicting classifications of pathogenicity |
| rs764923695 | 3:139,069,138 | A/G | — | uncertain significance |
| rs547111344 | 3:139,069,141 | A/G | — | uncertain significance |
| rs387906924 | 3:139,069,160 | T/C | missense variant | pathogenic |
| rs1322144248 | 3:139,069,165 | G/T | — | pathogenic |
| rs746955422 | 3:139,069,170 | G/A | — | likely benign |
| rs2472857861 | 3:139,069,180 | T/A | — | likely benign |
| rs397875589 | 3:139,069,517 | C/A | — | benign |
| rs6776315 | 3:139,069,569 | T/C | — | benign |
| rs9874956 | 3:139,069,570 | A/G | — | benign |
| rs17316181 | 3:139,069,693 | C/A | — | benign |
| rs2472859554 | 3:139,069,817 | A/G | — | likely pathogenic |
| rs923102105 | 3:139,069,819 | A/T | — | uncertain significance |
| rs201627731 | 3:139,069,822 | A/G | — | uncertain significance |
| rs1941140729 | 3:139,069,832 | A/G | — | uncertain significance |
| rs863224078 | 3:139,069,834 | G/A | — | uncertain significance |
| rs760106093 | 3:139,069,836 | C/T | — | likely benign |
| rs776170672 | 3:139,069,854 | C/T | — | likely benign |
| rs1941142337 | 3:139,069,882 | G/C | — | uncertain significance |
| rs755022329 | 3:139,069,902 | G/A | — | uncertain significance |
| rs764694623 | 3:139,069,915 | T/G | — | likely benign |
Showing 100 of 150 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.