Figure 2.

C2ORF69 is conserved in most eukaryotic species and possesses homology to esterase enzymes

(A) Exon-intron genomic organization of C2orf69 with positions of the six germline loss-of-function mutations identified.

(B) Protein organization of C2orf69 with positions of identified mutations.

(C) Amino acid sequence conservation of C2orf69 orthologs across all major eukaryotic phyla. With the exception of fungi, C2orf69 is recorded in all metazoans, plants, and phytoplankton.

(D) 3D structure prediction of human C2ORF69 with annotated residues L104_Y105 in green and predicted catalytic residue Ser264 in yellow.