Repeated Sequences#
Repeated sequence: a sequence where, compared to a reference sequence, a segment of one or more amino acids (the repeat unit) is present several times, one after the other..
Syntax#
Syntax | sequence_identifier ":p." position sequence "[" total_copy_number "]" |
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Examples |
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Explanation of Symbols | |
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Notes#
- all variants should be described at the DNA level, descriptions at the RNA and/or protein level may be given in addition
- repeated sequences include both small (mono-, di-, tri-, etc., amino acid) and larger repeats.
Examples#
p.Ala2[10]
: a repeated amino acid sequence, with the first Ala-residue located at position 2 is present in 10 copies.: NOTE: when the repeat is variable in the population and the reference sequence has 10 units, the descriptionp.Ala2[9]
is preferred overp.Ala11del
.: NOTE: when the repeat is variable in the population and the reference sequence has 10 units, the descriptionp.Ala2[12]
is preferred overp.Ala10_Ala11dup
.p.Ala2[10];[11]
: a repeated amino acid sequence, with the first Ala-residue located at position 2, is present in 10 copies on one allele and 11 copies on the other allele.p.Gln18[23]
: a repeated amino acid sequence, with the first Gln-residue located at position 18 is present in 23 copies (HD Gln-repeat based on the HTT (huntingtin) protein reference sequence (GenBank NP_002102.4)): NOTE: the protein reference sequence (GenBank NP_002102.4) contains an allele of 23 Gln copies (encoded by 22 "cag" and 1 "caa" codons).p.(Gln18)[(70_80)]
: the predicted Gln amnio acid repeat, starting at position 18, has an estimated size of between 70 to 80 copiess.: NOTE: the repeat can encoded by a mix of different coding triplets ("cag", "caa").