Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation

Figure 4

Predicted amino acid sequences of the proteins expressed from the wild type and mutant VHL gene transcripts (NM_000551.3). The wild type (reference) protein and the expected variant protein expressed from the VHL gene transcript (Refseq accession number: NM_000551.3) are shown. The single letter amino acid code has been used; the amino acids indicated in red identify those downstream of amino acid 75, and the asterisk indicates translation termination. This figure has been adapted from the output that was achieved by accessing the Mutalyzer 2.0.beta27 website (https://mutalyzer.nl/check) and inserting the transcript accession number and the DNA alteration, c.222_225dup.