Recommended nomenclature for sequence variants Flashcards
_____ is organized to eliminate ambiguity in the way in w/c mutations are described can occasionally give rise to confusion.
Human Genome Variation Society
For cDNA ( ‘ c. ’ ) sequences, the A of the _____ initiator methionine codon is denoted as nucleotide + 1, with the nucleotide immediately _____ to this being numbered − 1.
ATG ; 5 ′
For genomic ( ‘ g. ’ ) reference sequences, the first nucleotide of the database reference sequence is generally denoted as ____.
1
Substitutions are designated by a ____ symbol
> e.g. c.90A > G for substitution of the A at coding sequence nucleotide 90 by a G.
Deletions are indicated by _____ with the range of affected nucleotides shown using the ____ symbol, e.g. c.85_87delCTA.
del; underscore; e.g. c.85_87delCTA.
Insertions should be described w/ the positions of the _____.
flanking nucleotides; c.70_71insA
intronic nucleotides located either within the first half of the intron (or at a central nucleotide) are described in relation to the number of the ______.
last nucleotide of the preceding exon, e.g., c.100 + 2G > A for a substitution of the second nucleotide of the intron that is located between nucleotides 100 and 101 of the coding sequence
intronic mutations located in the second half of the intron, the position is given relative to the first nucleotide of the _____.
next exon, e.g., e.g. c.101-3T >C for a substitution of the T located at the third last nucleotide of that intron
Mutations can also be described at the protein level using the new standardized nomenclature, using the amino acid _____ and the _____ within the protein. They should be preceded by a _____ to designate a protein - level description. The initiator methionine is now designated codon ____.
amino acid short code; amino acid position; p., e.g., p.Trp26Cys or p. W26C; 1
Strictly, when such protein - level descriptions are first given in a text, they should also include the _____.
DNA level description
