MRPS14
mitochondrial ribosomal protein S14
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 belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs745668586 | 1:174,983,814 | C/T | — | likely benign |
| rs36081614 | 1:174,983,841 | A/G | — | likely benign |
| rs748223434 | 1:174,983,857 | C/T | — | uncertain significance |
| rs376643723 | 1:174,983,861 | A/G | — | uncertain significance |
| rs766691887 | 1:174,983,862 | G/T | — | likely benign |
| rs990763738 | 1:174,983,870 | G/A | — | pathogenic |
| rs750064013 | 1:174,983,884 | C/T | — | uncertain significance |
| rs1009738960 | 1:174,983,895 | A/G | — | likely benign |
| rs149343934 | 1:174,983,899 | C/T | — | uncertain significance |
| rs748241995 | 1:174,983,900 | G/A | — | uncertain significance |
| rs7540560 | 1:174,983,910 | C/T | — | likely benign |
| rs150535532 | 1:174,983,914 | A/G | — | likely benign |
| rs1358649076 | 1:174,983,947 | C/T | — | uncertain significance |
| rs749935224 | 1:174,983,953 | C/A | — | uncertain significance |
| rs75181581 | 1:174,985,844 | G/A | regulatory region variant | — |
| rs10912869 | 1:174,986,979 | C/T | — | — |
| rs758393878 | 1:174,987,573 | A/G | — | uncertain significance |
| rs751603880 | 1:174,987,580 | T/C | — | uncertain significance |
| rs199698673 | 1:174,987,600 | C/T | — | uncertain significance |
| rs769886991 | 1:174,987,613 | C/T | — | uncertain significance |
| rs1281959140 | 1:174,987,634 | T/C | — | uncertain significance |
| rs1672922511 | 1:174,987,642 | T/C | — | uncertain significance |
| rs912148117 | 1:174,987,647 | A/G | — | likely benign |
| rs61753789 | 1:174,987,650 | G/A | — | benign |
| rs1278051627 | 1:174,987,652 | G/A | — | uncertain significance |
| rs764862581 | 1:174,987,672 | T/C | — | uncertain significance |
| rs752490303 | 1:174,987,681 | C/T | — | uncertain significance |
| rs199541415 | 1:174,987,709 | C/A | — | uncertain significance |
| rs370844338 | 1:174,987,728 | A/G | — | likely benign |
| rs74128535 | 1:174,991,442 | T/C | downstream gene variant | — |
| rs2528827526 | 1:174,992,496 | T/C | — | uncertain significance |
| rs774948027 | 1:174,992,502 | G/C | — | uncertain significance |
| rs778786617 | 1:174,992,506 | G/A | — | likely benign |
| rs768183052 | 1:174,992,520 | G/A | — | likely benign |
| rs988043020 | 1:174,992,525 | C/A | — | uncertain significance |
| rs760873216 | 1:174,992,531 | A/G | — | uncertain significance |
| rs141489541 | 1:174,992,532 | T/C | — | conflicting classifications of pathogenicity |
Gene information from NCBI Gene. Variant classifications from ClinVar.