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Literature summary extracted from

  • Vanlander, A.V.; Menten, B.; Smet, J.; De Meirleir, L.; Sante, T.; De Paepe, B.; Seneca, S.; Pearce, S.F.; Powell, C.A.; Vergult, S.; Michotte, A.; De Latter, E.; Vantomme, L.; Minczuk, M.; Van Coster, R.
    Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2) (2015), Hum. Mutat., 36, 222-231 .
    View publication on PubMed

Application

EC Number Application Comment Organism
6.1.1.22 medicine homozygous missense mutation c.822G>C affects the 3 splice site of exon 7, leading to skipping of the whole exon 7 and a part of exon 8 in the NARS2 mRNA. Upon expression in fibroblasts a specific decrease in the amount of charged mt-tRNAAsn is found. Mutation was found in in two siblings born to consanguineous parents, one presenting with mild intellectual disability and epilepsy in childhood, whereas the other had severe myopathy Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
6.1.1.22 additional information homozygous missense mutation c.822G>C affects the 3 splice site of exon 7, leading to skipping of the whole exon 7 and a part of exon 8 in the NARS2 mRNA. Upon expression in fibroblasts a specific decrease in the amount of charged mt-tRNAAsn is found. Mutation was found in in two siblings born to consanguineous parents, one presenting with mild intellectual disability and epilepsy in childhood, whereas the other had severe myopathy Homo sapiens
6.1.1.22 Q274H the mutation leads to defective oxidative phosphorylation activity involving complex I and IV Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
6.1.1.22 mitochondrion
-
 Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
6.1.1.22 ATP + L-asparagine + tRNAAsn Homo sapiens
-
 AMP + diphosphate + L-asparaginyl-tRNAAsn
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
6.1.1.22 Homo sapiens Q96I59
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
6.1.1.22 lymphoblast
-
 Homo sapiens
-
6.1.1.22 skeletal muscle
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
6.1.1.22 ATP + L-asparagine + tRNAAsn
-
 Homo sapiens AMP + diphosphate + L-asparaginyl-tRNAAsn
-
 ?

Subunits

EC Number Subunits Comment Organism
6.1.1.22 ? x * 50000, SDS-PAGE Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
6.1.1.22 Asparaginyl-tRNA synthetase
-
 Homo sapiens
6.1.1.22 NARS2
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
6.1.1.22 ATP
-
 Homo sapiens