Literature summary for 2.5.1.75 extracted from

Takenouchi, T.; Wei, F.Y.; Suzuki, H.; Uehara, T.; Takahashi, T.; Okazaki, Y.; Kosaki, K.; Tomizawa, K.
Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples (2019), Am. J. Med. Genet. A, 179, 1609-1614 .

Search for more literature for 2.5.1.75

Application

Application	Comment	Organism
medicine	identification of compound heterozygous missense mutations, i.e. c.244A>G p.(Met82Val) in exon 2 in the maternally derived allele, and c.1034A>G p.(Tyr345Cys) in exon 9 in the paternally derived allele, in Trit1 in a girl with a developmental delay, frequent episodes of seizures induced by febrile illness, and myoclonic epilepsy. In peripheral blood and urine, a marked decrease in both i6A and ms2i6A modifications is observed. The mitochondrial disorder is caused by defective tRNA isopentenylation arising from a loss-of-function mutation in Trit1	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9H3H1	-	-

Synonyms

Synonyms	Comment	Organism
TRIT1	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)