RecName: Full=Probable proline--tRNA ligase, mitochondrial; AltName: F - Protein

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Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75. [Gene. 2024]
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
Hu X, Guo R, Hao C, Hao L. Gene. 2024 Feb 5; 894:147985. Epub 2023 Nov 11.
The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy. [J Hum Genet. 2018]
The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
Yin X, Tang B, Mao X, Peng J, Zeng S, Wang Y, Jiang H, Li N. J Hum Genet. 2018 Sep; 63(9):971-980. Epub 2018 Jun 18.
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations. [J Hum Genet. 2018]
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
Ciara E, Rokicki D, Lazniewski M, Mierzewska H, Jurkiewicz E, Bekiesińska-Figatowska M, Piekutowska-Abramczuk D, Iwanicka-Pronicka K, Szymańska E, Stawiński P, et al. J Hum Genet. 2018 Apr; 63(4):473-485. Epub 2018 Feb 6.

RefSeq genomic sequence
See the genomic reference sequence for the PARS2 gene (NG_042048.1).
RefSeq protein
See the reference protein sequence for probable proline--tRNA ligase, mitochondrial precursor (NP_689481.2).

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Q7L3T8 [Domain Mapping of Disease Mut...]
Q7L3T8
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Probable proline--tRNA ligase, mitochondrial; AltName: Full=Prolyl...
RecName: Full=Probable proline--tRNA ligase, mitochondrial; AltName: Full=Prolyl-tRNA synthetase; Short=ProRS; AltName: Full=Prolyl-tRNA synthetase 2, mitochondrial; Flags: Precursor
gi|73919761|sp|Q7L3T8.1|SYPM_HUMAN

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