FIGURE

Fig. 1

ID

ZDB-FIG-250526-40

Publication

Efthymiou et al., 2025 - Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

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Fig. 1

Genetic pedigrees of the reported individuals with homozygous TRMT1 variants (A) Pedigrees of the families described. Squares, males; circles, females; black symbols, affected individuals; white symbols, unaffected individuals. Double lines indicate consanguinity. The text below each affected individual describes their alleles with variant alleles in red. (B) Coding exons of the TRMT1 mRNA with variants noted. (C) Schematic indicating the domains of the TRMT1 protein. The red box represents the mitochondrial targeting signal (MTS), while the blue box indicates the class I S-adenosyl-methionine-dependent methyltransferase (SAM MT) domain. The yellow box indicates a C-terminal bipartite nuclear localization signal embedded within a C3H1-type zinc finger (Zn Fn) motif. Variants reported in this study are represented in black, while previously reported variants are in red.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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