| Type | Description |
|---|---|
| Definition | prolyl-tRNA synthetase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2018-12-22 10:44:00 | study provides further evidence for validating the role of PARS2 in the pathology of related infantile-onset encephalopathy, contributing to the phenotypic features of this condition, and providing clinical and molecular insight for the diagnosis of this disease entity. | 29915213 |
| 2018-09-08 11:21:00 | Depending on available data of six patients from three families, we describe a phenotype linked to PARS2 pathological variants. This phenotype includes: early epileptic encephalopathy, infantile spasms, and Alpers-like brain MRI changes with predominance of frontal cerebral volume loss (FCVL-AS). | 29410512 |
| 2018-01-13 13:59:00 | The individuals with PARS2 and NARS2 mutations demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type. | 28077841 |
| 2017-07-29 11:51:00 | The PARS2 gene produced a significant association signal in a recent replication study of all known CRS-associations and is now the first human gene to be re-sequenced within CRS research. PARS2 showed an accumulation of low-frequency variants in CRS patients compared to background populations. | 27348859 |
| 2013-03-09 10:24:00 | unusual 2.0 A structure showing that ATP directly locks onto and orients two parts of halofuginone (HF) onto human ProRS, so that one part of HF mimics bound proline and the other mimics the 3' end of bound tRNA. | 23263184 |
| Type | IDs |
|---|---|
| Synonymous | MT-PRORS, proRS |
| Gene |
UniProtKB-ID:
SYPM_HUMAN
UniprotKB:
Q7L3T8
UniParc:
UPI00000492D2
EMBL:
BC011758,
AL139244,
AK025585,
BC007956,
CH471059,
AL117473,
AK289679
Ensembl:
ENSG00000162396
KO:
hsa:25973
|
| Nucleutide sequences |
EMBL-CDS:
CAB55948.1,
BAB15178.1,
EAX06669.1,
AAH11758.2,
AAH07956.2,
BAF82368.1
Ensembl_TRS:
ENST00000371279
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000360327
RefSeq:
NP_689481.2
|
| Others |
UniRef100:
UniRef100_Q7L3T8
UniRef90:
UniRef90_Q7L3T8
UniRef50:
UniRef50_Q7L3T8
UniGene:
Hs.380169
CCDS:
CCDS597.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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