Figure 2. In silico analysis of TMEM126Bvariants.
A. Amino acid conservation analysis of exon 2 and 3, and amino acid variant tolerance in gnomAD database. Different backcolor indicates the genetic tolerance.
B. Bioinformatic analysis of allele frequency and pathogenicity prediction about two variants.
C. Putative splice sites and scores for wild-type and mutant sites predicted from ASSP.
D. Splicing regulatory protein binding motif predicted by ESE Finder for wild-type and mutants. Mutation sites are highlighted in red. NA, not available; HGMD, Human Gene Mutation Database; ACMG, the American College of Medical Genetics and Genomics.