AARS1 Chromosome 16

Alanyl-tRNA synthetase 1
140 variants 140 Health Risk

Upload your DNA to see your personal genotypes for variants in AARS1.

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
RS1025002934 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29
RS1054385792 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
RS1057518288 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS1057521642 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS115882953 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Ovarian serous cystadenocarcinoma
RS1165867512 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29
RS1217292644 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1316227824 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1319547380 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137894161 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS138081804 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS138406510 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
RS139785247 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS140135726 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2N
RS141486562 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS142181559 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2N
RS142850278 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy
RS143370729 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2
RS143844046 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS144323646 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS144982168 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Trichothiodystrophy 8
RS145056270 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 29, Charcot-Marie-Tooth disease type 2
RS145581652 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2N
RS147187788 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases
RS147433234 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2N
RS147580372 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases
RS148383122 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS150080663 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases
RS150873930 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS1555539335 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1567608510 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
RS1597435885 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS190680402 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
RS199728312 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS199976742 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS200586605 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases
RS2152163363 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS369774476 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy, 29
RS370622071 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS376087556 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
RS377576408 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
RS387906792 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N
RS527414180 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Developmental and epileptic encephalopathy
RS531257362 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS541788902 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS576221121 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases
RS746210439 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS746822330 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2N
RS747142680 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS747431164 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases
1 2 3 Next »
Sign Up to Analyze Your DNA Log In