The nomenclature system used for polymorphisms is the following :
Polymorphisms in the 5' region are numbered either from the start of transcription or from the start of translation (specified for each gene) :
G-261A indicates a G/A substitution affecting the 261st nucleotide upstream from the transcription (or translation) start.
Polymorphisms in translated exons are designated by the codon number and the single letter amino acid codes :
K198N indicates a Lysine at codon 198 substituted by an Asparagine;
L191L indicates a silent mutation at codon 191 (Leucine/Leucine).
Polymorphisms in unstranslated exons and located upstream from the start of translation are numbered from the start of the exon :
T+55/ex4C indicates a T/C substitution affecting the 55th nucleotide of exon 4.
Polymorphisms in the 3' region are numbered after the Stop codon :
A+39C indicates an A/C substitution affecting the 39th nucleotide after the Stop codon.
This designation also concerns polymorphisms in untranslated exons located after the Stop codon.
Polymorphisms in introns are numbered either positively from the start of the intron or negatively from the start of the following exon :
C+8/in7A indicates a C/A substitution affecting the 8th nucleotide of intron 7;
C-32/in1T indicates a C/T substitution affecting the 32nd nucleotide before exon 2.
Insertion/deletion polymorphisms are designated ins/del :
+238ins/del indicates an insertion/deletion at nucleotide 238 after the Stop codon.
Repeat polymorphisms are designated rpt.
|Alphabetical list :
||There are 810 polymorphisms listed below ...