Fig. 9

The analysis of hornerin variants. a A nonsynonymous variant, c.3023G > C/p. (Ser1008Thr), was found in the gene HRNR by the whole-exome sequencing. SIFT: The amino acid substitution is predicted. Scores range from 0 to 1. Damaging if the score is ≤ 0.05 and tolerated if the score is > 0.05 (https://sift.bii.a-star.edu.sg/www/SIFT_seq_submit2.html). PolyPhen-2: scores were evaluated from 0.000 (most probably benign) to 0.999 (most probably damaging). Mutation Taster: a value close to 1 indicates a high security of the prediction, and the alterations are classified as disease causing or polymorphisms. gnomAD: Genome Aggregation Database (http://gnomad.broadinstitute.org/). b DNA sequence of the PCR product used for variant detection. Oligonucleotide primers are shown by arrows. Amino acid translation is shown below the DNA sequence. The circled base represents the G3023C change in the mutant allele. The resulting amino acid Ser1008Thr change is represented by the circled amino acid. c PCR was performed with genomic DNAs of NIID, Control 1, Control 2 brains as well as HeLa and HEK293T cells. NC refers to negative control. d The G3023C variant in NIID was confirmed by DNA sequencing. The variant site is shown by red arrows