AARS1 Chromosome 16

Alanyl-tRNA synthetase 1
140 variants 140 Health Risk

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What This Gene Does
The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000090861
Associated Conditions (24)
Charcot-Marie-Tooth disease type 2
Developmental and epileptic encephalopathy
29
Trichothiodystrophy 8
nonphotosensitive
Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Uterine corpus endometrial carcinoma
Charcot-Marie-Tooth disease
AARS-related disorder
AARS1-related disorder
Malignant tumor of esophagus
Sarcoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Gastric cancer
Thymoma
Peripheral neuropathy
Leukoencephalopathy
+4 more conditions
Key Variants
RS1025002934
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29
Health Risk
RS1054385792
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
Health Risk
RS1057518288
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
Health Risk
RS1057521642
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
Health Risk
RS115882953
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Ovarian serous cystadenocarcinoma
Health Risk
RS1165867512
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29
Health Risk
RS1217292644
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1316227824
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1319547380
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS137894161
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
Health Risk
RS138081804
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
Health Risk
RS138406510
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
Health Risk
All Variants (140)
RSID Category Clinical Significance Conditions
RS750552137 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS751472610 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS751721557 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS751781504 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS755350912 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Clear cell carcinoma of kidney, Charcot-Marie-Tooth disease type 2
RS757295540 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS758003106 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS761043713 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS762395098 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS762556251 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS762734676 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29
RS765398055 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases
RS766897796 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS768412428 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS769571173 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS770697148 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS771059047 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS773045737 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS775024070 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS777499923 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS77753666 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS777601008 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Peripheral neuropathy, Charcot-Marie-Tooth disease axonal type 2N
RS77814513 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS779150762 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS780609058 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS886052255 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS914414911 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS1064795664 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1361458223 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1456469605 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N
RS1555539157 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 29, Developmental and epileptic encephalopathy
RS1555542415 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N
RS1597434047 Health Risk Likely pathogenic —
RS1597446183 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1960065852 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2152154412 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 29, Developmental and epileptic encephalopathy
RS2152156655 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 29, Developmental and epileptic encephalopathy
RS2152160643 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2152166762 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2507016563 Health Risk Likely pathogenic Leukoencephalopathy, hereditary diffuse, with spheroids 2
RS2507018118 Health Risk Likely pathogenic Trichothiodystrophy 8, nonphotosensitive, Trichothiodystrophy 8
RS2507028484 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N
RS2507037782 Health Risk Likely pathogenic —
RS786205157 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease axonal type 2N
RS866662905 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1173826571 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1211684571 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1292379905 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1438690757 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS145859060 Health Risk Pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
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