Fig. 1
From: Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
The CREB3L1 variant visualized on an Integrated Genome Viewer (IGV) and schematic representation of the domain structures of human OASIS. (a) The homozygous variant at chr11(hg19): 46341840 C > A in whole genome sequencing data on IGV in patient no 6. The variant is located in CREB3L1. It creates a stop codon at position 428 and causes early termination of the protein (p.Tyr428*, c.1284C > A). (b) Schematic representation of the domain structures of human OASIS. Different domains are colored in different shades of grey. Mutations identified in this study (p.Tyr428*) and identified by Keller et al. (p.Lys312del) have been shown on the protein. The mutation is located directly after the S1P recognition motif (RSLL), highlighted in grey. Multiple sequence alignment shows evolutionary conservation of Tyr428 across species