| Variant ID | 2973 |
|---|---|
| Entrez Gene ID | 64969 |
| Gene | MRPS5 (GeneCards) |
| Location | hg19 2:95805373-95805373
hg38 2:95139628-95139628 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000002.11:g.95805373 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0779 |
| CADD Raw score (version 1.3) | 0.628992 (Deleterious) |
| FATHMM raw prediction score | 0.20977 (Tolerated) |
| Deleterious probability by DeFine | 0.0676 (Neutral) |
| Entrez Gene ID | 64969 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MRPS5 (GeneCards) |
| Number of variants in MRPS5 in this database | 2 (view all the variants) |
| Full name | mitochondrial ribosomal protein S5 |
| Band | 2q11.1 |
| Other IDs | Vega: OTTHUMG00000130394 OMIM: 611972 HGNC: HGNC:14498 Ensembl: ENSG00000144029 |
| Other names | S5mt, MRP-S5 |
| 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 S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |