Article
The evolutionary background and functional consequences of the rs2071307 polymorphism in human tropoelastin.
Biopolymers - 1 Feb 2021
Reichheld Sean E, Muiznieks Lisa D, Huynh Quang, Wang Nick, Ing Christopher, Miao Ming, Sitarz Eva E, Pomès Régis, Sharpe Simon, Keeley Fred W
Abstract excerpt
Elastin is a major polymeric protein of the extracellular matrix, providing critical properties of extensibility and elastic recoil. The rs2071307 genomic polymorphism, resulting in the substitution of a serine for a glycine residue in a VPG motif in tropoelastin, has an unusually high minor allele frequency in humans. A consequence of such allelic heterozygosity would be the presence of a heterogeneous elastin...
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