MRPL3
mitochondrial ribosomal protein L3
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 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]
Known Variants96 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143594337 | 3:131,181,481 | G/A | — | likely benign |
| rs143176048 | 3:131,181,581 | T/C | — | uncertain significance |
| rs201060753 | 3:131,181,593 | C/G | — | uncertain significance |
| rs368304354 | 3:131,181,595 | G/A | — | uncertain significance |
| rs141422904 | 3:131,181,605 | C/T | — | uncertain significance |
| rs145183319 | 3:131,181,629 | G/A | — | conflicting classifications of pathogenicity |
| rs780672468 | 3:131,181,633 | T/C | — | likely benign |
| rs755437627 | 3:131,181,660 | T/C | — | likely benign |
| rs387906962 | 3:131,181,664 | G/C | missense variant | pathogenic |
| rs61731513 | 3:131,181,669 | T/C | — | benign |
| rs776589313 | 3:131,181,676 | T/G | — | uncertain significance |
| rs148679749 | 3:131,181,683 | C/T | — | likely benign |
| rs3805089 | 3:131,181,696 | T/C | — | likely benign |
| rs368697552 | 3:131,181,712 | T/C | — | uncertain significance |
| rs181324747 | 3:131,186,928 | T/C | — | likely benign |
| rs149305040 | 3:131,186,943 | A/G | — | benign |
| rs201756957 | 3:131,186,944 | G/A | — | likely benign |
| rs758835610 | 3:131,186,945 | C/G | — | not provided |
| rs143788120 | 3:131,186,967 | A/G | — | uncertain significance |
| rs771914518 | 3:131,187,005 | C/T | — | uncertain significance |
| rs116437167 | 3:131,188,258 | T/C | — | likely benign |
| rs16836769 | 3:131,188,318 | A/G | — | likely benign |
| rs2291382 | 3:131,188,528 | T/G | — | benign |
| rs558570864 | 3:131,188,550 | T/C | — | uncertain significance |
| rs778902830 | 3:131,188,552 | T/C | — | likely benign |
| rs1397323040 | 3:131,188,563 | A/G | — | uncertain significance |
| rs2291381 | 3:131,188,574 | A/G | — | benign |
| rs947657612 | 3:131,188,589 | T/G | — | uncertain significance |
| rs1057523049 | 3:131,188,624 | G/A | — | likely benign |
| rs2472501948 | 3:131,188,636 | G/T | — | likely benign |
| rs145848434 | 3:131,189,748 | A/T | — | likely benign |
| rs16836775 | 3:131,189,947 | G/A | — | benign |
| rs80054800 | 3:131,189,972 | T/C | — | benign |
| rs772525073 | 3:131,190,019 | G/C | — | uncertain significance |
| rs983108162 | 3:131,190,029 | C/T | — | uncertain significance |
| rs2110696575 | 3:131,190,046 | G/C | — | uncertain significance |
| rs150805631 | 3:131,190,061 | T/C | — | uncertain significance |
| rs201688022 | 3:131,190,063 | C/T | — | likely benign |
| rs755670166 | 3:131,190,088 | C/T | — | uncertain significance |
| rs147025268 | 3:131,190,138 | C/T | — | likely benign |
| rs115850789 | 3:131,190,425 | G/A | — | likely benign |
| rs74809119 | 3:131,193,290 | T/A | regulatory region variant | — |
| rs781742364 | 3:131,206,509 | G/A | — | uncertain significance |
| rs780595770 | 3:131,206,523 | C/T | — | pathogenic |
| rs115401960 | 3:131,206,542 | A/C | — | uncertain significance |
| rs372170222 | 3:131,206,546 | A/G | — | uncertain significance |
| rs577543676 | 3:131,206,550 | T/C | — | uncertain significance |
| rs376536556 | 3:131,206,558 | G/A | — | uncertain significance |
| rs1064793180 | 3:131,206,582 | T/G | — | uncertain significance |
| rs72997229 | 3:131,208,593 | C/T | — | benign |
| rs767055598 | 3:131,208,839 | G/A | — | uncertain significance |
| rs1934217888 | 3:131,208,845 | T/A | — | uncertain significance |
| rs1380149465 | 3:131,208,859 | G/T | — | likely benign |
| rs143317681 | 3:131,208,881 | G/A | — | uncertain significance |
| rs369657581 | 3:131,208,887 | C/A | — | uncertain significance |
| rs764942168 | 3:131,208,896 | C/T | — | likely benign |
| rs537480020 | 3:131,217,024 | C/T | — | conflicting classifications of pathogenicity |
| rs187676972 | 3:131,217,031 | G/A | — | uncertain significance |
| rs753788762 | 3:131,217,093 | G/A | — | uncertain significance |
| rs553214138 | 3:131,217,096 | T/C | — | uncertain significance |
| rs139126705 | 3:131,217,121 | C/T | — | uncertain significance |
| rs73870983 | 3:131,217,196 | C/A | — | likely benign |
| rs17277864 | 3:131,217,208 | T/C | — | benign |
| rs4854897 | 3:131,217,318 | G/A | — | benign |
| rs9289390 | 3:131,219,070 | C/T | — | benign |
| rs77103341 | 3:131,219,082 | G/C | — | benign |
| rs143805867 | 3:131,219,126 | A/C | — | likely benign |
| rs749279093 | 3:131,219,254 | G/A | — | likely benign |
| rs1582722640 | 3:131,219,286 | G/A | — | likely benign |
| rs193113171 | 3:131,219,293 | T/C | — | uncertain significance |
| rs776834032 | 3:131,219,315 | A/G | — | uncertain significance |
| rs2472545877 | 3:131,219,359 | A/G | — | likely benign |
| rs779441494 | 3:131,219,369 | G/A | — | likely benign |
| rs78741858 | 3:131,220,121 | G/T | — | likely benign |
| rs80053966 | 3:131,220,124 | T/A | — | benign |
| rs76447680 | 3:131,220,228 | A/T | — | benign |
| rs2306741 | 3:131,220,253 | C/T | — | benign |
| rs149518238 | 3:131,220,357 | C/T | — | benign |
| rs1252933546 | 3:131,220,368 | T/A | — | likely benign |
| rs77947063 | 3:131,220,371 | T/G | — | benign |
| rs151331067 | 3:131,220,428 | C/T | — | likely benign |
| rs2472547764 | 3:131,220,435 | A/T | — | uncertain significance |
| rs374963628 | 3:131,220,438 | G/A | — | uncertain significance |
| rs140531329 | 3:131,220,457 | G/A | — | likely benign |
| rs762927506 | 3:131,220,463 | C/A | — | uncertain significance |
| rs754419878 | 3:131,220,531 | G/T | — | uncertain significance |
| rs79534309 | 3:131,220,550 | G/C | — | uncertain significance |
| rs749424539 | 3:131,220,561 | T/G | — | likely pathogenic |
| rs112568605 | 3:131,220,644 | A/C | — | likely benign |
| rs80342240 | 3:131,220,792 | C/A | — | likely benign |
| rs79180480 | 3:131,220,820 | C/A | — | likely benign |
| rs75310313 | 3:131,221,280 | G/A | — | likely benign |
| rs560352821 | 3:131,221,554 | A/G | — | likely benign |
| rs775175471 | 3:131,221,605 | C/G | — | uncertain significance |
| rs529760975 | 3:131,221,614 | G/A | — | uncertain significance |
| rs2107606867 | 3:131,221,621 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.