| Type | Description |
|---|---|
| Definition | phenylalanyl-tRNA synthetase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2020-05-16 12:27:00 | the presence of aggregation-prone insoluble human mitochondrial phenylalanyl-tRNA synthetase (HsmitPheRS) variants could have a detrimental impact on organellar translation, and potentially impact normal mitochondrial function in Alpers encephalopathy | 31241862 |
| 2019-06-22 11:49:00 | The total number of unique pathogenic FARS2 variants known to date is 21 including three different partial gene deletions reported in four individuals. Except for the large deletions, all variants but two (one in-frame deletion of one amino acid and one splice-site variant) are missense. All large deletions and the single splice-site variant are in trans with a missense variant. | 30177229 |
| 2018-09-01 11:20:00 | Based on the phenotypic data of previously reported subjects and the two subjects reported here, we conclude that FARS2 deficiency can be associated with two phenotypes: (i) an epileptic phenotype, and (ii) a spastic paraplegia phenotype. | 29126765 |
| 2017-10-21 11:53:00 | in patients with drug-resistant infantile spasm syndrome, associated with focal seizures, mild metabolic changes, and cerebral atrophy with volume loss of white matter on MRI, mutations in FARS2 should be considered. | 27549011 |
| 2017-08-26 11:56:00 | Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2 have been described. | 28419689 |
| Type | IDs |
|---|---|
| Synonymous | COXPD14, FARS1, HSPC320, PheRS, SPG77 |
| Gene |
UniProtKB-ID:
SYFM_HUMAN
UniprotKB:
O95363
UniParc:
UPI000006CF04
EMBL:
AF161438,
CR542279,
BC021112,
AL392184,
AL022097,
BC020239,
AK312454,
AL121978,
AF097441,
AL133473,
AL590868,
AK223423
Ensembl:
ENSG00000145982
KO:
hsa:10667
|
| Nucleutide sequences |
EMBL-CDS:
CAG47075.1,
AAC83802.1,
BAG35361.1,
BAD97143.1,
AAH21112.1,
AAH20239.1,
AAF28998.1
Gene_ORFName:
HSPC320
Ensembl_TRS:
ENST00000274680,
ENST00000324331
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000316335,
ENSP00000274680
RefSeq:
NP_001361806.1,
NP_001361804.1,
NP_001362187.1,
XP_006715029.1,
NP_001361807.1,
NP_006558.1,
NP_001362188.1,
XP_011512549.1,
XP_011512550.1,
NP_001361805.1,
NP_001362186.1,
NP_001362189.1,
XP_011512551.1,
NP_001305801.1,
NP_001361808.1,
XP_011512553.1
|
| Others |
UniRef100:
UniRef100_O95363
UniRef90:
UniRef90_O95363
UniRef50:
UniRef50_O95363
UniGene:
Hs.484547
CCDS:
CCDS4494.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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