Fig. 2

Position of the identified TSGA10 variant at genomic, transcript and protein levels. A TSGA10 is located on chromosome (chr) 2, comprises 21 exons, and encodes a predicted 698-amino-acid protein (NCBI: ENST00000393483.8; UniProt KB: Q9BZW7-1). The TSGA10 variant (c.1112T > C, p. Leu371Pro), is located on exon 15. B Conservative analysis of the missense variant site in different species. C Effect of the variant on the helical structure of protein, predicted by Reprof software. Proline disrupts an α-helix. Due to this TSAG10 ^{p. Leu371Pro} variant, the α-helix is disrupted, which could have severe effects on the structure of the protein