FIGURE

Figure 2

ID

ZDB-FIG-250204-96

Publication

Falabella et al., 2024 - Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

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Figure 2

PTPMT1 variants and gene structure. (A) Schematic representation of the PTPMT1 gene showing the localization of variants c.65A>C and c.255G>C and their effects on protein sequence. PTPMT1 protein sequences alignment, indicating identical and highly conserved residues. (B) RNA-sequencing analysis of the PTPMT1 c.255G>C splicing variant. Schematics of normal PTPMT1 splicing (top) and the three aberrant splicing events associated with the c.255G>C variant.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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