Literature summary for 6.1.1.18 extracted from

Kodera, H.; Osaka, H.; Iai, M.; Aida, N.; Yamashita, A.; Tsurusaki, Y.; Nakashima, M.; Miyake, N.; Saitsu, H.; Matsumoto, N.
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy (2015), J. Hum. Genet., 60, 97-101 .

Search for more literature for 6.1.1.18

Cloned(Commentary)

Cloned (Comment)	Organism
transient expression of the p.Lys496stop mutant in neuroblastoma 2A cells reveals diminished and aberrantly aggregated expression	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
K496stop	naturally occuring mutation involved in early-onset epileptic encephalopathy (EOEE), heterozygous mutation leading to a deletion of part of the catalytic domain and the entire anticodon-binding domain, a loss-of-function mutant	Homo sapiens
Y57H	naturally occuring mutation involved in early-onset epileptic encephalopathy (EOEE), heterozygous mutation, a loss-of-function missense mutation	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P47897	-	-

Synonyms

Synonyms	Comment	Organism
Glutaminyl-tRNA synthetase	-	Homo sapiens
QARS	-	Homo sapiens

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Release 2023.1 (January 2023)