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.