Literature summary for 6.1.1.22 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 .

Search for more literature for 6.1.1.22

Application

Application	Comment	Organism
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

Protein Variants	Comment	Organism
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
Q274H	the mutation leads to defective oxidative phosphorylation activity involving complex I and IV	Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q96I59	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
lymphoblast	-	Homo sapiens	-
skeletal muscle	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Subunits

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

Synonyms

Synonyms	Comment	Organism
Asparaginyl-tRNA synthetase	-	Homo sapiens
NARS2	-	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
ATP	-	Homo sapiens

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Release 2023.1 (January 2023)