Figure 2 | Scientific Reports

Figure 2

From: A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

Figure 2

Schematic diagram and annotation of the identified c.80G > A, p.W27* variant in the DCBLD2 gene. (A) The identified nonsense variant in the DCBLD2 gene (c.80G > A; p.W27*) is located on chromosome 3 q12. The variant falls in the first exon and in some of the ENCODE functional data tracks on the hg19 in the UCSC genome browser. The variant falls in a region with strong regulatory elements including sites of DNaseI hypersensitivity, chromatin Imunoprecipitation (CHIP-seq) and predicted multiple transcription factor binding sites (TFBSs) such as PLAG1, CTCF and EGR4; the darkness of the segment is proportional to the signal strength. The arrows the strand direction. (B) The identified variant that creates a stop codon at amino acid 27 is located on the N-terminus of DCBLD2. The diagram was generated using prosite (https://prosite.expasy.org/cgi-bin/prosite).

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