MARS1 Chromosome 12
Methionyl-tRNA synthetase 1
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What This Gene Does
This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
"Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000166986
Associated Conditions (20)
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease
MARS-related disorder
MARS1-related disorder
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Uterine carcinosarcoma
Acute myeloid leukemia
Cervical cancer
Familial cancer of breast
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Sarcoma
Germ cell tumor of testis
Autosomal recessive spastic paraplegia type 70
Pulmonary alveolar proteinosis
Key Variants
RS1037400402
Conflicting classifications of pathogenicity
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Health Risk
RS1173899198
Conflicting classifications of pathogenicity
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Health Risk
RS1327486572
Conflicting classifications of pathogenicity
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Health Risk
RS138776588
Conflicting classifications of pathogenicity
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Charcot-Marie-Tooth disease
Health Risk
RS139600659
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
Health Risk
RS140467171
Conflicting classifications of pathogenicity
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MARS-related disorder, Charcot-Marie-Tooth disease
Health Risk
RS140573721
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease
Health Risk
RS141340466
Conflicting classifications of pathogenicity
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Health Risk
RS145260922
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
Health Risk
RS146851019
Conflicting classifications of pathogenicity
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Health Risk
RS148501787
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease
Health Risk
RS150428018
Conflicting classifications of pathogenicity
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1037400402 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS1173899198 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS1327486572 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS138776588 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Charcot-Marie-Tooth disease |
| RS139600659 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U |
| RS140467171 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MARS-related disorder, Charcot-Marie-Tooth disease |
| RS140573721 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease |
| RS141340466 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS145260922 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U |
| RS146851019 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS148501787 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease |
| RS150428018 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS1555166943 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U |
| RS1555168270 | Health Risk | Conflicting classifications of pathogenicity | MARS-related disorder, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U |
| RS200011880 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MARS1-related disorder |
| RS200334446 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, MARS1-related disorder |
| RS200490364 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS35843015 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, MARS1-related disorder |
| RS368800423 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS372013808 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MARS1-related disorder |
| RS376636502 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Sarcoma |
| RS377050640 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS529046133 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS558631075 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U |
| RS73344082 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MARS1-related disorder |
| RS745584505 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U |
| RS749954063 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS751080704 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS753118055 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS761648454 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS764601965 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS772759631 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS773914259 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U |
| RS777324495 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U |
| RS777370844 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U |
| RS778753999 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS781462684 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS995030286 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U |
| RS758523839 | Health Risk | Likely pathogenic | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS774227542 | Health Risk | Likely pathogenic | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS1230918876 | Health Risk | Pathogenic | — |
| RS2140038700 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2U, Charcot-Marie-Tooth disease axonal type 2U |
| RS2540255891 | Health Risk | Pathogenic | Germ cell tumor of testis, Germ cell tumor of testis |
| RS2540290892 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 70, Autosomal recessive spastic paraplegia type 70 |
| RS756021768 | Health Risk | Pathogenic | Pulmonary alveolar proteinosis, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Pulmonary alveolar proteinosis |