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
RS1555540896 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1567601355 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1567604571 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1597435337 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1597435790 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1597448762 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1960348987 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1960369184 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1960409206 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1960557616 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2152149706 Health Risk Pathogenic Trichothiodystrophy 8, nonphotosensitive, Trichothiodystrophy 8
RS2152153611 Health Risk Pathogenic Developmental and epileptic encephalopathy, 29, Developmental and epileptic encephalopathy
RS2152160733 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS2152160758 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N
RS2152166979 Health Risk Pathogenic Developmental and epileptic encephalopathy, 29, Developmental and epileptic encephalopathy
RS2506989427 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2506997702 Health Risk Pathogenic Developmental and epileptic encephalopathy, 29, Developmental and epileptic encephalopathy
RS2506997974 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2507003569 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2507012689 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2507013974 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2507020531 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS369135192 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS747434741 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS752548366 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS754266971 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS758183257 Health Risk Pathogenic Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2
RS768830699 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS772774828 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS781347519 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS977976041 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS992919450 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1398433261 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS2152166694 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy, hereditary diffuse
RS267606621 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS756337758 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS761931081 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS763937206 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS766251338 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Colon adenocarcinoma, Charcot-Marie-Tooth disease type 2
RS868097991 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
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