Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome

Table 1 Frequency of disease-associated and non-synonymous (nSNPs) mutations in different evolutionary rate categories

Rate index (estimated rate range)	Disease-associated genes (523)		Other genes (2264)
	No. of positions	DAMs	No. of positions	nSNPs
0 (0.000–0.125)	90,971	3,047	339,162	510
1 (0.126–0.250)	95,991	2958	546,466	622
2 (0.251–0.375)	39,751	649	203,711	688
3 (0.376–0.500)	41,570	618	208,192	588
4 (0.501–0.625)	18,235	240	96,819	343
5 (0.626–0.750)	21,490	227	108,584	571
6 (0.751–0.875)	16,061	145	72,280	395
7 (0.876–1.000)	11,451	82	44,487	305
Total	335,520	7,966	1,619,701	4,022

NOTE: – The evolutionary rates of amino acid positions obtained from Maximum Likelihood analysis ranges from 0.32 to 3.4. For simplicity, we normalized each rate value by dividing by 3.4 in order to make the scale from 0.094–1.000. The amino acid positions were then grouped into eight categories based on their relative rate of evolution with an interval of 0.125.

ISSN: 1471-2164