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. Author manuscript; available in PMC: 2019 Apr 1.
Published in final edited form as: Hum Mutat. 2018 Jan 19;39(4):550–562. doi: 10.1002/humu.23397

FIGURE 2. Rare variants found in the CYP26B1 gene in the NTD case:control cohort.

FIGURE 2

A) CYP26B1 is located on chromosome 2 in the p13.2 genomic region. B) CYP26B1 contains 5–6 exons depending on alternative splicing. All cohort-specific rare variants found in the present study were visualized in the UCSC genome browser (GRCh37/hg19). Green font indicates rare variants identified in controls, red font indicates NTD-specific rare variants. C) Schematic of the CYP26B1 protein showing functional domains and the position of rare variants found in exonic regions indicated by red oval for NTD-specific variants or green oval for the single control individual. D) Sanger sequencing traces to confirm the potential damaging rare variants found in the CYP26B1 gene in NTD individuals. E) Conservation analysis by Clustal omega and location of NTD-specific variants. F) Predicted effect of the rare variants relative to protein function and amino acid charge.