Fig. 1: Simplified gene diagram representing the canonical transcript of P4HTM, Refseq NM_177938.2. | European Journal of Human Genetics

Fig. 1: Simplified gene diagram representing the canonical transcript of P4HTM, Refseq NM_177938.2.

From: Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency

Fig. 1

The proband’s compound heterozygous variants are shown in bold with filled triangles (red). Previously reported variants are shown with unfilled triangles. All variants were rare or absent in population databases and predicted to result in loss of function of P4HTM. The numbers represent amino acid position. TMD transmembrane domain.

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