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Variant Descriptions Mutation Type
The syntax of the standard human sequence variant nomenclature depends on the type of variations. Six variation types are supported.
A substitution is the replacement of a single nucleotide or amino acid by another. A substitution involving multiple residues is classified as an indel. The start and end position should be identical. The original residue and the new residue have to be specified and must be non-identical. In the Name Generator, the Deleted Sequence and Inserted Sequence fields must be filled in.
A deletion is the removal of one or more nucleotides or amino acids without replacement. In the Name Generator, the Inserted Sequence field must remain empty. The Deleted Sequence field can be filled in to check the start and end positions and to match the deleted residues with the reference sequence (Optional). Please note that the start and end positions should be equal when only one nucleotide or amino acid is deleted.
An insertion is the addition of one or more nucleotides or amino acids without removing any previously existing ones. The starting and end positions should differ by exactly one. In the Name Generator, Inserted Sequence must be filled in with the actual new sequence. If the inserted sequence is already present in the reference sequence at the location of the insertion, it should be represented as a duplication.
Duplication is the addition of one or more nucleotides or amino acids identical to the sequence from the specified start position to the specified end position, at the end position. In the Name Generator, Deleted Sequence must remain empty. Inserted Sequence can be filled in to check the start and end positions and to match the duplicated residues with the reference sequence (Optional).
An indel is the removal of one or more bases or amino acids, combined with the addition of one or more bases or amino acids. In case a single residue is deleted and another residue is inserted, the mutation should be described as a substitution, not an indel. If the inserted sequence is the reverse complement of the original sequence, it should be described as an inversion. Start and end position define the boundaries of the deletion in the original sequence. In the Name Generator, the deleted sequence should be entered in the Deleted Sequence field and the Inserted sequence in the New Sequence field.
An inversion is a sequence of two or more bases inserted as its reverse complement. Start and end position must be non-identical. In the Name Generator, the Deleted Sequence and Inserted Sequence fields must remain empty.