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Figure 3 | BMC Genetics

Figure 3

From: Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3mutation; case report and review of the literature

Figure 3

GALNT3 variations [[3],[4],[8],[11],[18],[22],[26]-[36]]. The figure shows the position of the amino acid changes associated with HFTC and/or HHS. The amino acid changes are placed in boxes corresponding to the observed phenotype; green box means HHS, blue box means HFTC and red box means the combined phenotype HFTC + HHS. Mutations placed above the figure are predicted to damage protein function, while missense mutations are placed below the figure. The orange box represents the transmembrane domain (TM, aa 20-37), the light red box represents the glycosyl transferase domain (aa 188-374), and the light blue box represents the ricin-B-lectin domain (aa 497-630). The shaded area represents the glycosyl transferase superfamily domain (aa 163-496).

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BMC Genomic Data

ISSN: 2730-6844

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