| Variant ID | 29497 |
|---|---|
| Entrez Gene ID | 64969 |
| Gene | MRPS5 (GeneCards) |
| Location | hg19 2:95774145-95774145
hg38 2:95108400-95108400 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.95774145 C>T (Genome Assembly: hg19) |
| 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 | 0.2047 |
| CADD Raw score (version 1.3) | 4.060811 (Deleterious) |
| FATHMM raw prediction score | 0.99306 (Tolerated) |
| SIFT score | 0.221 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.455 (Deleterious) |
| PROVEAN score | -1.4 (Tolerated) |
| MetaSVM score | -0.701 (Tolerated) |
| MetaLR score | 0.238 (Tolerated) |
| MCAP score | 0.019 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.25 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.355 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.69 |
| Deleterious probability by iFish2 | 0.4448 (Neutral) |
| Deleterious probability by DeFine | 0.954 (Deleterious) |
| 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 | 28714951.173 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |