| Type | Description |
|---|---|
| Definition | alanyl-tRNA synthetase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2020-05-16 11:45:00 | This is the first report of a homozygous pathogenic AARS2 mutation in premature ovarian insufficiency. | 31280959 |
| 2019-06-08 10:21:00 | clinical, biochemical and molecular investigations of two unrelated boys presenting with fatal infantile cardiomyopathy, lactic acidosis and respiratory failure | 30285085 |
| 2019-05-25 10:56:00 | AARS2-related leukoencephalopathy is a new variant of mitochondrial encephalomyopathy. | 30706699 |
| 2018-12-29 11:30:00 | Two AARS2 variants, (c.2872C > T) and (c.1774C > T), were identified in a child with cardiomyopathy with early-onset brain disease. | 29440775 |
| 2018-11-17 10:11:00 | Three patients with ovarioleukodystrophy, carrying AARS2 compound heterozygous mutations have been found. | 29749055 |
| Type | IDs |
|---|---|
| Synonymous | AARSL, COXPD8, LKENP, MT-ALARS, MTALARS |
| Gene |
UniProtKB-ID:
SYAM_HUMAN
UniprotKB:
Q5JTZ9
UniParc:
UPI00001C1E5A
EMBL:
AB033096,
AL353588,
BC033169,
BC013593,
BC131728
Ensembl:
ENSG00000124608
KO:
hsa:57505
|
| Nucleutide sequences |
EMBL-CDS:
BAA86584.1,
AAI31729.1,
AAH33169.1,
AAH13593.1
Ensembl_TRS:
ENST00000244571
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000244571
RefSeq:
NP_065796.2,
XP_011513066.1,
XP_016866601.1,
XP_005249302.1
|
| Others |
UniRef100:
UniRef100_Q5JTZ9
UniRef90:
UniRef90_Q5JTZ9
UniRef50:
UniRef50_Q5JTZ9
UniGene:
Hs.158381
CCDS:
CCDS34464.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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