| Variant ID | 29206 |
|---|---|
| Entrez Gene ID | 51253 |
| Gene | MRPL37 (GeneCards) |
| Location | hg19 1:54670919-54670919
hg38 1:54205246-54205246 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.54670919 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | 0.2445 |
| CADD Raw score (version 1.3) | -0.245393 (Deleterious) |
| FATHMM raw prediction score | 0.22701 (Tolerated) |
| Deleterious probability by DeFine | 0.7931 (Deleterious) |
| Entrez Gene ID | 51253 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MRPL37 (GeneCards) |
| Number of variants in MRPL37 in this database | 1 (view all the variants) |
| Full name | mitochondrial ribosomal protein L37 |
| Band | 1p32.3 |
| Other IDs | Vega: OTTHUMG00000008118 OMIM: 611843 HGNC: HGNC:14034 Ensembl: ENSG00000116221 |
| Other names | L2mt, L37mt, MRPL2, RPML2, MRP-L2, MRP-L37 |
| 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. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.83 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |