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Egyptian Journal of Medical Human Genetics
Fig. 4 | Egyptian Journal of Medical Human Genetics

Fig. 4

From: The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

Fig. 4

The POMGNT1 protein’s 3D structure and a schematic depiction of its subunits. The canonical isoform of the POMGNT1 protein (Q8WZA1-1) comprises the cytoplasmic tail, transmembrane domain (Signal-anchor for type II membrane protein), catalytic and carbohydrate-binding stem domains. Tryptophan is topologically positioned at p.25 of the POMGNT1 protein and is part of the cytoplasmic tail (Met1 to Arg37)

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