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Table 1 The proportion of nonstop mutations harboured by each type of stop codon in mutated gene sequences, HGMD control gene sequences and the human genome at large

From: A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

Stop codon type

Proportion of stop codons harbouring nonstop mutations causing human genetic disease (%)a

Proportion of stop codons in HGMD control gene sequences (%)b

Estimated proportion (number) of stop codons in the human genome (%)c

TAA

26.05

28.60

27.8 (8106)

TAG

16.81

21.99

23.6 (6901)

TGA

57.14

49.40

48.6 (14203)

  1. aMutations and sequences were taken from the HGMD [1].
  2. bThe control dataset comprises 1,692 genes listed in the HGMD but for which no nonstop mutations have been recorded to date.
  3. cBased on a total of 29,210 stop codons associated with annotated human genes. Data from the Transterm database http://uther.otago.ac.nz/Transterm.html[16]