Description Usage Details Value Examples
A constructor for a protein-level HGVS builder object. The object contains a collection of functions for building protein HGVS strings.
1 | new.hgvs.builder.p(aacode = c(1, 3))
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The resulting object encapsulates the following functions:
synonymous() A synonymous variant. No parameters required.
synonymous(pos,ancestral) Unofficial (yet frequently used) version of synonymous variant syntax. pos = position (integer); ancestral = ancestral amino acid in one-letter or three-letter code.
substitution(pos,ancestral,variant) AA substitution variants. pos = position (integer); ancestral = ancestral amino acid in one-letter or three-letter code; variant = variant amino acid in one-letter or three-letter code
deletion(startPos,startAA,endPos,endAA) AA deletion. startPos = start position (integer); startAA = start amino acid in one-letter or three-letter code; endPos = stop position (integer); endAA = start amino acid in one-letter or three-letter code
duplication(startPos,startAA,endPos,endAA) AA duplication. startPos = start position (integer); startAA = start amino acid in one-letter or three-letter code; endPos = stop position (integer); endAA = start amino acid in one-letter or three-letter code
insertion(leftPos,leftAA,rightAA,seq) AA insertion. leftPos = position immediately preceeding the insertion (integer); leftAA = corresponding amino acid in one-letter or three-letter code; rightAA = amino acid to the right of the insertion, in one-letter or three-letter code; seq = inserted amino acid sequence, given as a character vector containing the individual one-letter or three-letter amino acid codes.
delins(startPos,startAA,endPos,endAA,seq) AA deletion and insertion. startPos = start position (integer); startAA = start amino acid in one-letter or three-letter code; endPos = stop position (integer); endAA = start amino acid in one-letter or three-letter code; seq = inserted amino acid sequence, given as a character vector containing the individual one-letter or three-letter amino acid codes.
frameshift(startPos,startAA,variantAA=NA,newStop=NA) Frameshift variant.
startPos = start position (integer);
startAA = start amino acid in one-letter or three-letter code;
variantAA = amino acid replacing the start position in the frameshift sequence,
given in one-letter or three-letter code, or NA
to omit (default);
newStop = the position of the nearest coding resulting from the frameshift,
or NA
to omit (default).
cis(...) Multi-variant phased in cis. Parameters are coding HGVS strings for the
corresponding single mutants. As phasing in trans would be nonsensical in a protein context,
the trans()
and nophase()
methods are not provided here.
A hgvs.builder.g
object with functions for building genomic HGVS strings.
The individual functions return single-element character vectors containing these strings.
1 2 3 4 | builder <- new.hgvs.builder.g()
string1 <- builder$substitution(123,"R","K")
string2 <- builder$delins(123,"Arg",152,"Leu",c("Lys","Trp","Ser"))
string3 <- with(builder,cis(substitution(123,"R","K"),deletion(125,"S",152,"L")))
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