MRPS31
mitochondrial ribosomal protein S31
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. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142646038 | 13:41,303,525 | T/C | — | uncertain significance |
| rs1879600434 | 13:41,303,574 | C/A | — | uncertain significance |
| rs201924592 | 13:41,303,602 | C/T | — | uncertain significance |
| rs374234655 | 13:41,303,644 | A/G | — | uncertain significance |
| rs146322897 | 13:41,303,722 | C/T | — | uncertain significance |
| rs1300836347 | 13:41,303,723 | C/T | — | uncertain significance |
| rs201528345 | 13:41,310,283 | G/A | — | — |
| rs9549276 | 13:41,313,087 | T/G | — | — |
| rs9603786 | 13:41,316,364 | G/T | — | — |
| rs58908501 | 13:41,317,324 | G/T | — | — |
| rs72476607 | 13:41,317,527 | A/G | intron variant | — |
| rs757919004 | 13:41,323,282 | T/C | — | uncertain significance |
| rs759910674 | 13:41,323,398 | C/G | — | uncertain significance |
| rs757895673 | 13:41,323,408 | G/A | — | uncertain significance |
| rs185897036 | 13:41,328,161 | C/T | — | uncertain significance |
| rs555429143 | 13:41,328,205 | C/G | — | uncertain significance |
| rs377188729 | 13:41,331,014 | T/G | — | uncertain significance |
| rs774829178 | 13:41,331,043 | G/T | — | uncertain significance |
| rs1228233832 | 13:41,331,111 | G/C | — | uncertain significance |
| rs8002412 | 13:41,331,497 | T/C | intron variant | — |
| rs774724951 | 13:41,333,121 | A/G | — | uncertain significance |
| rs2501563591 | 13:41,333,222 | T/G | — | uncertain significance |
| rs77473576 | 13:41,338,147 | T/C | intron variant | — |
| rs199554814 | 13:41,340,912 | C/T | — | likely benign |
| rs755050072 | 13:41,340,917 | C/G | — | uncertain significance |
| rs199933450 | 13:41,340,992 | T/A | — | uncertain significance |
| rs774026133 | 13:41,341,036 | T/C | — | uncertain significance |
| rs1279309120 | 13:41,341,131 | C/T | — | uncertain significance |
| rs766257255 | 13:41,341,146 | T/C | — | uncertain significance |
| rs764279977 | 13:41,341,159 | T/A | — | uncertain significance |
| rs556043646 | 13:41,341,161 | T/C | — | uncertain significance |
| rs73461206 | 13:41,343,753 | C/G | — | — |
| rs1880995208 | 13:41,345,203 | G/A | — | uncertain significance |
| rs754218007 | 13:41,345,214 | G/T | — | uncertain significance |
| rs1370419199 | 13:41,345,223 | T/G | — | uncertain significance |
| rs757842607 | 13:41,345,227 | G/A | — | uncertain significance |
| rs751181261 | 13:41,345,235 | G/A | — | likely benign |
| rs745589744 | 13:41,345,244 | G/A | — | uncertain significance |
| rs185925279 | 13:41,345,245 | G/A | — | uncertain significance |
| rs759755257 | 13:41,345,269 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.