Variant Descriptions Gene Symbol

Gene Symbol, alternative transcript variants and protein isoforms

Optional in combination with reference sequence records containing unambiguous annotation of a single gene, transcript or protein.

In genomic records containing annotation of multiple genes, alternative transcript variants and protein isoforms, only genomic positions are unambiguous. Descriptions at Non-coding DNA, coding DNA, or protein level may be ambiguous. Mutalyzer parses the annotation of the [ReferenceSequences reference sequence] record and displays the detected genes, transcript variants or protein isoforms in the legend at the bottom of the output page. Mutalyzer uses the annotation to detect potential ambiguity in a variant description. Further specification of genes, transcript variants or protein isoforms may be required to solve it. Only Gene Symbols matching the reference sequence annotation are supported. Usually, gene symbols have to be combined with the desired transcript variant or protein isoform.

Transcript variant and protein isoform descriptions are accepted in two formats:

• A positive integer referring to the order of the transcripts in the annotation, e.g. 1, 2, 3, ...
• The exact identifier following the underscore behind the Gene symbol in the legend, e.g. v002 for a transcript variant or i002 for a protein isoform

Examples:

• DMD_v1
• DMD_i1