Figure 3
From: PCSK5 mutation in a patient with the VACTERL association
Evolutionary conservation of the region containing the frameshift mutation in the PCSK5 gene. a Two novel missense mutations in exon 14 of PCSK5-003 inherited from the maternal allele have no conservation across species. b The frameshift mutation in exon 34 (PCSK5-201)/28 (PCSK5-002) derived from the paternal allele affects highly conserved residues. The p.Q1626K (PCSK5-201)/p.Q1326K (PCSK5-002) mutation exhibits conservation among primates, but may be functionally irrelevant due to an upstream frameshift mutation.