MRPS35
mitochondrial ribosomal protein S35
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 has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs35475802 | 12:27,863,792 | C/A | — | benign |
| rs762417368 | 12:27,863,796 | C/T | — | uncertain significance |
| rs149994546 | 12:27,863,799 | C/T | — | uncertain significance |
| rs1282888597 | 12:27,863,805 | T/A | — | uncertain significance |
| rs1315842373 | 12:27,863,835 | G/A | — | uncertain significance |
| rs202170958 | 12:27,863,847 | C/T | — | uncertain significance |
| rs140355712 | 12:27,863,859 | C/T | — | benign |
| rs1127787 | 12:27,867,727 | G/A | — | benign |
| rs774641669 | 12:27,867,731 | A/G | — | likely benign |
| rs779151427 | 12:27,869,299 | A/G | — | uncertain significance |
| rs1452000457 | 12:27,869,384 | T/G | — | uncertain significance |
| rs373440176 | 12:27,872,766 | C/G | — | uncertain significance |
| rs1477039186 | 12:27,877,004 | C/T | — | uncertain significance |
| rs373075818 | 12:27,877,012 | A/G | — | uncertain significance |
| rs370568776 | 12:27,877,034 | A/G | — | uncertain significance |
| rs370242713 | 12:27,877,087 | C/T | — | uncertain significance |
| rs199604189 | 12:27,877,099 | G/C | — | uncertain significance |
| rs61915365 | 12:27,878,254 | C/G | intron variant | — |
| rs189046087 | 12:27,879,385 | C/A | intron variant | — |
| rs146814230 | 12:27,881,626 | G/A | intron variant | — |
| rs371051564 | 12:27,888,408 | A/C | — | uncertain significance |
| rs555006072 | 12:27,888,447 | G/A | — | uncertain significance |
| rs201119795 | 12:27,890,497 | G/A | — | uncertain significance |
| rs371762041 | 12:27,890,514 | A/T | — | likely benign |
| rs148546654 | 12:27,890,519 | C/A | — | uncertain significance |
| rs565509193 | 12:27,895,952 | C/T | — | — |
| rs188993616 | 12:27,898,606 | C/A | intron variant | — |
| rs568011189 | 12:27,908,165 | A/G | — | likely benign |
| rs200563140 | 12:27,908,300 | G/T | — | uncertain significance |
| rs61415492 | 12:27,908,368 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.