| Variant ID | 987 |
|---|---|
| Entrez Gene ID | 5859 |
| Gene | QARS (GeneCards) |
| Location | hg19 3:49141368-49141368
hg38 3:49103935-49103935 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.49141368 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 101 |
| Amino acid changes in protein | P > P |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1458 |
| CADD Raw score (version 1.3) | 0.618123 (Deleterious) |
| FATHMM raw prediction score | 0.7948 (Tolerated) |
| Deleterious probability by DeFine | 0.8852 (Deleterious) |
| Entrez Gene ID | 5859 (NCBI Gene) |
|---|---|
| Official Gene Symbol | QARS (GeneCards) |
| Number of variants in QARS in this database | 1 (view all the variants) |
| Full name | glutaminyl-tRNA synthetase |
| Band | 3p21.31 |
| Other IDs | Vega: OTTHUMG00000156774 OMIM: 603727 HGNC: HGNC:9751 Ensembl: ENSG00000172053 |
| Other names | GLNRS, MSCCA, PRO2195 |
| Summary | Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |