Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 <i>PDGFRB</i> Variants and Their Role in Downstream Signaling.

ABSTRACT: Four different amino acid substitutions have been reported at the p.Asn666 position in platelet-derived growth factor receptor β (PDGFRβ): p.Asn666Lys, p.Asn666Tyr, p.Asn666Ser, and p.Asn666His. All four substitutions result in strikingly different phenotypes, ranging from somatic infantile myofibromatosis in p.Asn666Lys and ocular pterygium-digital keloid dysplasia in p.Asn666Tyr to a severe form of Penttinen syndrome in p.Asn666Ser, while p.Asn666His is associated with a complex phenotype characterized by debilitating hand and foot contractures and facial coarseness. Here, we show that the p.Asn666Lys, p.Asn666Tyr, and p.Asn666His substitutions result in increased total PDGFRβ phosphorylation at 32°C compared to 37°C. All four substitutions exhibit distinct activatio

SUBMITTER: Gladkauskas T 

PROVIDER: S-EPMC12041633 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature