| |
Mutation type and basis of disease aetiology
|
|---|
Mutation/
regulatory type
|
PCM state
|
DM
|
DP
|
FP
|
DFP
|
Total
|
|---|
|
Coding sequence
|
Human
|
5/5
|
38/43
|
11/11
|
17/18
|
71/77
|
| |
Neanderthal
|
0/0
|
1/1
|
0/0
|
0/0
|
1/1
|
| |
Denisovan
|
1/1
|
0/0
|
0/0
|
0/0
|
1/1
|
| |
Ancient
|
0/0
|
1/1
|
2/4
|
0/0
|
3/5
|
| |
Chimpanzee
|
4/4
|
7/8
|
2/4
|
0/0
|
13/16
|
| |
Denisovan and chimpanzee
|
3/3
|
4/5
|
0/0
|
0/0
|
7/8
|
| |
Neanderthal and chimpanzee
|
2/2
|
4/6
|
1/1
|
1/1
|
8/10
|
| |
Others
|
1/1
|
0/1
|
0/0
|
0/0
|
1/2
|
| |
Total
|
16/16
|
55/65
|
16/20
|
18/19
|
105/120
|
|
Regulatory
|
Human
|
0
|
23
|
10
|
13
|
46
|
| |
Neanderthal
|
0
|
0
|
2
|
1
|
3
|
| |
Denisovan
|
0
|
0
|
0
|
3
|
3
|
| |
Ancient
|
0
|
2
|
0
|
1
|
3
|
| |
Chimpanzee
|
0
|
5
|
5
|
4
|
14
|
| |
Denisovan and chimpanzee
|
0
|
4
|
1
|
1
|
6
|
| |
Neanderthal and chimpanzee
|
0
|
1
|
1
|
0
|
2
|
| |
Others
|
0
|
0
|
0
|
1
|
1
|
| |
Total
|
0
|
35
|
19
|
24
|
78
|
- 'Human': The Denisovan nucleotide, Neanderthal nucleotide and chimpanzee nucleotide were identical to a human DM/disease-associated mutation; 'Neanderthal': The Neanderthal nucleotide was identical to the human DM/disease-associated mutation, whereas both the chimpanzee nucleotide and the Denisovan nucleotide were identical to the human wild-type nucleotide; 'Denisovan': The Denisovan nucleotide was identical to the human DM/disease-associated mutation, whereas both the chimpanzee nucleotide and the Neanderthal nucleotide were identical to the human wild-type nucleotide; 'Ancient': Both the Denisovan nucleotide and the Neanderthal nucleotide were identical to the human DM/disease-associated P mutation, whereas the chimpanzee nucleotide was identical to the human wild-type nucleotide. 'Chimpanzee': The chimpanzee nucleotide was identical to the human DM/disease-associated mutation, whereas both the Neanderthal nucleotide and the Denisovan nucleotide were identical to the modern human wild-type nucleotide. 'Denisovan and chimpanzee': Both the Denisovan nucleotide and the chimpanzee nucleotide were identical to the human DM/disease-associated mutation, whereas the Neanderthal nucleotide was identical to the human wild-type nucleotide; 'Neanderthal and chimpanzee': Both the Neanderthal nucleotide and the chimpanzee nucleotide were identical to the human DM/disease-associated mutation, whereas the Denisovan nucleotide was identical to the human wild-type nucleotide. Under coding sequence, 'a/b' means that there were a total number of 'b' mutations, of which 'a' were non-synonymous mutations (there were some synonymous mutations within the coding sequence; eg CM068190, CM077900).
- 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.
