Figure 3.

C5ORF42 Mutations Identified in Individuals with JBTS

(A) Scheme showing the positions of the mutations with respect to the different C5ORF42 Ensembl-annotated transcripts that are predicted to produce proteins. The numbering on top is based on the cDNA positions of ENST00000425232 (identical to RefSeq accession number NM_023073.3). Mutation c.7957+288G>A is annotated as part of a coding exon in ENST00000388739 and causes a missense change (p.Ala1564Thr).

(B) NCBI HomoloGene-generated amino acid alignment of C5ORF42. Its predicted orthologs show the conservation of the Arg1336 residue.