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

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

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
  1. 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.