Skip to main content

Table 1 Comparison of 12 different methods for mutation analysis

From: Status quo of annotation of human disease variants

Method

Pathogenic mutants

SNPs

Based on

Grantham [13]

67,4

65,2

AA differences

PhD-SNP [16]

85,6

73,9

Conservation

Panther [15]

86,5

35,1

Conservation

SIFT [14]

87,8

64,4

Conservation

SNPs&GO [20]

72,5

77,8

Conservation, GO terms

SNAP [19]

83,4

56,5

Conservation, sequence predicted structure information

MutPred [21]

92,8

85,7

Conservation, sequence predicted structure information

nsSNPanalyzer [24]

74,5

67,6

Conservation, 3D structural features from homologs, AA properties

SNPs3D [22]

86,3

62,8

Conservation, structure information (pre-calculated from database)

PolyPhen-2 [32]

95,0

58,6

Conservation, 3D structural features from homologs, SwissProt annotations

HOPE [35]

96,1

76,1

Conservation, structural features from structure and homology models, SwissProt features, predictions, AA properties

  1. Results of the mutation analysis on 181 pathogenic and 46 neutral variants by 11 different methods. Pathogenic mutants and SNPs are shown in percentage of correctly predicted cases. The numbers indicate percentages correctly (damaging for the pathogenic variants and benign for the SNPs) predicted mutations.