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

Table 1 Missense and regulatory mutations from the HGMD used in this study, categorised by mutation type and putative role in disease aetiology

Mutation/ polymorphism type	Type and putative role in disease aetiology
	DM	DP	DFP	FP	Total
Coding sequence	41,960	942	295	1,151	44,348
Regulatory	635	340	391	346	1,712
Total	42,595	1,282	686	1,497	46,060

DM, disease-causing mutation; DP, disease-associated polymorphism lacking functional evidence; DFP, disease-associated polymorphism with functional evidence; FP, polymorphism with functional evidence but lacking a reported disease association as yet.

ISSN: 1479-7364