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Literature summary for 2.1.1.61 extracted from

  • Meng, F.; Cang, X.; Peng, Y.; Li, R.; Zhang, Z.; Li, F.; Fan, Q.; Guan, A.S.; Fischel-Ghosian, N.; Zhao, X.; Guan, M.X.
    Biochemical evidence for a nuclear modifier allele (A10S) in TRMU (methylaminomethyl-2-thiouridylate-methyltransferase) related to mitochondrial tRNA modification in the phenotypic manifestation of deafness-associated 12S rRNA mutation (2017), J. Biol. Chem., 292, 2881-2892 .
    View publication on PubMedView publication on EuropePMC
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Protein Variants

Protein Variants Comment Organism
A10S the mutation alters the structure and function of the enzyme, thereby causing mitochondrial dysfunction, and interacts with 12S rRNA 1555A->G mutation to cause deafness. The mutation causes marked decreases in 2-thiouridine modification of U34 of tRNALys (48% decrease), tRNAGlu (38% decrease) and tRNAGln (50% decrease). However, the mutation mildly increases the aminoacylated efficiency of tRNA Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
methylaminomethyl-2-thiouridylate-methyltransferase
-
 Homo sapiens
TRMU
-
 Homo sapiens

Temperature Stability [°C]

Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
45.9
-
 melting temperature of the mutant enzyme A10S Homo sapiens
49.1
-
 melting temperature of the wild type enzyme Homo sapiens