IARS1 Chromosome 9
Isoleucyl-tRNA synthetase 1
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What This Gene Does
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. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
"Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
9q22.31
Ensembl
ENSG00000196305
Associated Conditions (6)
Growth retardation
intellectual developmental disorder
hypotonia
and hepatopathy
Microcephaly
Global developmental delay
Key Variants
RS149009678
Conflicting classifications of pathogenicity
Health Risk
RS367830465
Conflicting classifications of pathogenicity
Health Risk
RS530035386
Conflicting classifications of pathogenicity
Health Risk
RS569119560
Conflicting classifications of pathogenicity
Growth retardation, intellectual developmental disorder, hypotonia
Health Risk
RS570962385
Conflicting classifications of pathogenicity
Growth retardation, intellectual developmental disorder, hypotonia
Health Risk
RS752656493
Conflicting classifications of pathogenicity
Health Risk
RS1587725422
Likely pathogenic
Health Risk
RS1587880332
Likely pathogenic
Health Risk
RS2133977803
Likely pathogenic
Microcephaly, Global developmental delay, Microcephaly
Health Risk
RS2490127977
Likely pathogenic
Health Risk
RS748349854
Likely pathogenic
Health Risk
RS1231537024
Pathogenic
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149009678 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367830465 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS530035386 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS569119560 | Health Risk | Conflicting classifications of pathogenicity | Growth retardation, intellectual developmental disorder, hypotonia |
| RS570962385 | Health Risk | Conflicting classifications of pathogenicity | Growth retardation, intellectual developmental disorder, hypotonia |
| RS752656493 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1587725422 | Health Risk | Likely pathogenic | — |
| RS1587880332 | Health Risk | Likely pathogenic | — |
| RS2133977803 | Health Risk | Likely pathogenic | Microcephaly, Global developmental delay, Microcephaly |
| RS2490127977 | Health Risk | Likely pathogenic | — |
| RS748349854 | Health Risk | Likely pathogenic | — |
| RS1231537024 | Health Risk | Pathogenic | — |
| RS1379813032 | Health Risk | Pathogenic | — |
| RS140292751 | Health Risk | Pathogenic | — |
| RS1486035598 | Health Risk | Pathogenic | — |
| RS1554728327 | Health Risk | Pathogenic | Growth retardation, intellectual developmental disorder, hypotonia |
| RS1828715424 | Health Risk | Pathogenic | — |
| RS1834041329 | Health Risk | Pathogenic | — |
| RS2490595544 | Health Risk | Pathogenic | — |
| RS2490862344 | Health Risk | Pathogenic | — |
| RS2490952104 | Health Risk | Pathogenic | Growth retardation, intellectual developmental disorder, hypotonia |
| RS2491063775 | Health Risk | Pathogenic | — |
| RS747311061 | Health Risk | Pathogenic | Growth retardation, intellectual developmental disorder, hypotonia |
| RS764500338 | Health Risk | Pathogenic | Growth retardation, intellectual developmental disorder, hypotonia |
| RS765771535 | Health Risk | Pathogenic | Growth retardation, intellectual developmental disorder, hypotonia |
| RS771883699 | Health Risk | Pathogenic | — |
| RS776702276 | Health Risk | Pathogenic | — |
| RS886037873 | Health Risk | Pathogenic | Growth retardation, intellectual developmental disorder, hypotonia |
| RS886037874 | Health Risk | Pathogenic | Growth retardation, intellectual developmental disorder, hypotonia |
| RS886037875 | Health Risk | Pathogenic | Growth retardation, intellectual developmental disorder, hypotonia |
| RS886037876 | Health Risk | Pathogenic | Growth retardation, intellectual developmental disorder, hypotonia |
| RS886037877 | Health Risk | Pathogenic | Growth retardation, intellectual developmental disorder, hypotonia |
| RS1057520159 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS775291555 | Health Risk | Pathogenic/Likely pathogenic | — |