| Nomenclature : |
The nomenclature system used for polymorphisms is the following :
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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.
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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).
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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.
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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.
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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.
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Insertion/deletion polymorphisms are designated ins/del :
+238ins/del indicates an insertion/deletion at nucleotide 238 after the Stop codon.
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Repeat polymorphisms are designated rpt.
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| Alphabetical list : |
There are 810 polymorphisms listed below ... |
