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Table 4 Novel variants identified via Sanger sequencing and the GRC 5-gene panel with in silico predictive scores of pathogenicity including MutationTaster, PredictSNP2, CADD, DANN, FATHMM, FunSeq2 and GWAVA

From: Investigating diagnostic sequencing techniques for CADASIL diagnosis

SAMPLE

Mutation

Cysteine altering

Exon

Between exons 2 and 24

MutationTaster

PredictSNP2 (%)

CADD (%)

DANN (%)

FATHMM (%)

FunSeq2 (%)

GWAVA (%)

CAD-390

Thr514Met

N

10

Y

Disease causing

87

65 (N)

73

56

62

?

CAD-528

Cys291Ser

Y

6

Y

Disease causing

87

84

60

83

62

?

CAD-535

Cys318Phe

Y

6

Y

Disease causing

87

84

60

82

62

?

CAD-630

Cys473Leu

Y

9

Y

Disease causing

82

84

77

63 (N)

62

51

CAD-640

Pro857Leu

N

17

Y

Disease causing

87

80

77

72

62

53 (N)

  1. The percentage indicates how confident the tool is for determining a deleterious, neutral (N) or unknown (?) variant effect. Percentages listed with “(N)” indicated the percentage of confidence in calling a benign or non-damaging variants based off the in silico tool used. “?” indicates that the in silico tool could not determine whether the variant would be pathogenic or damaging
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Human Genomics

ISSN: 1479-7364