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Table 2 Variants of known NOTCH3 mutations identified in three patients by NGS. RefSeq NM_000435.2

From: Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients

Sample ID

Gender

Age

Exon

EGF-repeat

Codon change

Protein change

PhyloP

SIFT

PolyPhen2 HVar

MutationTaster

GERP++

AGVGD

PhD-SNP

Snp138

C-20

F

54

4

4

c.547T>C

p.Cys183Arg

C (1.82)

D (0)

D (1)

D

4.32

C65

Non-neutral

 

C-42

F

47

6

8

c.994C>T

p.Arg332Cys

C (2.46)

D (0.03)

D (1)

D

4.6

C65

Non-neutral

rs137852641

C-14

M

33

9

11

c.1394A>G

p.Tyr465Cys

N (−0.833)

T (0.08)

P (0.886)

D

−4.41

C65

Non-neutral

 
  1. PhyloP, SIFT, Polyphen-2, MutationTaster, GERP++, AGVGD and PhD-SNP are functional prediction scores in which increasing values indicate a more damaging effect except SIFT score <0.05 has damaging effect
  2. Abbreviations: C conserved, N not-conserved or neutral, D damaging or deleterious, P possible damaging, T tolerated