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Table 3 HGMD-derived mutations identified as PCMs in the Denisovan genome and/or chimpanzee genome

From: Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

  Mutation type and basis of disease
aetiology
Mutation/
regulatory
type
PCM state DM DP FP DFP Total
Coding
sequence
Ancestral 5/5 24/29 9/9 5/7 43/50
  Derived 4/4 7/7 4/5 4/4 19/20
  Denisovan 0/0 4/6 2/2 0/0 6/8
  Others 0/0 1/1 0/0 0/0 1/1
  Total 9/9 36/43 15/16 9/11 69/79
Regulatory Ancestral 2 6 9 12 29
  Derived 1 2 1 2 6
  Denisovan 0 1 0 2 3
  Total 3 9 10 16 38
  1. Ancestral: Both the Denisovan nucleotide and the chimpanzee nucleotide were identical to the human DM/disease-associated mutation; Derived: The chimpanzee nucleotide was identical to the human DM/disease-associated mutation, whereas the Denisovan nucleotide was identical to the human wild-type nucleotide; Denisovan: The Denisovan nucleotide was identical to the human DM/disease-associated mutation, whereas the chimpanzee nucleotide was identical to the human wild-type nucleotide. Under coding sequence, 'a/b' means there were a total number of 'b' mutations, of which 'a' were non- synonymous mutations.
  2. PCM, potentially compensated mutations; DM, disease-causing mutation; DP, disease-associated polymorphism with functional evidence; FP, polymorphism with functional evidence but lacking a reported disease association as yet; DFP, disease-associated polymorphism with functional evidence.