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EC Number Application Commentary Reference
Show all pathways known for 6.1.1.22Display the word mapDisplay the reaction diagram Show all sequences 6.1.1.22drug development Brugia malayi asparaginyl-tRNA synthetase, a target for anti-parasitic drug design 675081
Show all pathways known for 6.1.1.22Display the word mapDisplay the reaction diagram Show all sequences 6.1.1.22medicine filariasis caused by the nematode, Brugia malayi, is an important worldwide tropical disease in which parasites disappear from the bloodstream during daylight hours, thus hampering standard microscopic diagnostic methods 695019
Show all pathways known for 6.1.1.22Display the word mapDisplay the reaction diagram Show all sequences 6.1.1.22medicine 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 745056
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