Table 1 Variants of unknown significance of NOTCH3, CACNA1A and SCN1A genes identified in eight suspicious CADASIL patients. RefSeq NM_000435, NM_001127221 and NM_001165963
Sample ID | Gene | Gender | Age | Exon | EGF-repeat | Codon change (FWD) | Protein change | PhyloP | SIFT | PolyPhen2 HVar | MutationTaster | GERP++ | AGVGD | PhD-SNP |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C-11 | NOTCH3 | F | 42 | 4 | 3 | c.416A>T | p.Asp139Val | C (1.89) | T (0.06) | P (0.499) | D | 5.02 | C65 | Non-neutral |
C-4 | NOTCH3 | M | 67 | 11 | 15 | c.1791C>G | p.Cys597Trp | N (0.434) | D (0) | D (1.0) | D | 2.25 | C65 | Non-neutral |
C-15 | NOTCH3 | F | 52 | 11 | 15 | c.1820G>A | p.Arg607His | C (2.21) | T (0.54) | B (0.0.026) | D | 3.22 | C25 | Neutral |
C-24 | NOTCH3 | M | 54 | 16 | 21 | c.2439G>A | p.Glu813Glu | – | – | – | D (splice site changes) | – | – | – |
C-10 and C-44 | NOTCH3 | F | 74, 52 | 18 | 25 | c.2929T>G | p.Cys977Gly | C (2.04) | D (0) | D (1.0) | D | 5.36 | C65 | Non-neutral |
C-6 | NOTCH3 | F | 51 | 20 | 28 | c.3317A>G | p.Tyr1106Cys | C (1.92) | D (0) | D (0.998) | D | 5.08 | C65 | Non-neutral |
C-36 | CACNA1A | M | 60 | 6 | – | c.832G>T | p.Ala278Ser | C (2.46) | T (0.13) | D (0.963) | D | 5.27 | NA | Neutral |
C-36 | SCN1A | M | 60 | 20 | – | c.3924A>T | p.Glu1308Asp | C (2.08) | T (0.37) | P (0.727) | D | 5.46 | NA | Neutral |