Sequencing analysis of p.S339L mutation in the <i>TLN2</i> gene (DNA).

Abstract

<p>(A) Unaffected member (IV:2) of the family. (B) Patient (IV:1) with heterozygous p.S339L mutation. (C) Serine at position 339 is highly conserved across different animal species. (D) Cartoon representation of the model structure of the TLN2 protein by PyMOL 1.7 based on the CPHmodels-3.2: The serine and the mutated leucine at position 339 are shown as ball-and-stick models.</p