Table 2 Potential disease causing variants identified by Sanger sequencing stratified according to exon number and the number of samples with that variant
From: Investigating diagnostic sequencing techniques for CADASIL diagnosis
Mutation | No. of samples | Exon | Cysteine altering | rs number | Previously identified |
|---|---|---|---|---|---|
p.Arg110Cys | 2 | 3 | Y | – | HGMD CM971056 |
p.Arg110Tyr | 1 | 3 | N | – | HGMD CM971056 |
p.Arg141Cys | 14 | 4 | Y | – | HGMD CM971058 |
p.Arg153Cys | 6 | 4 | Y | rs797045014 | HGMD CM971060 |
p.Arg169Cys | 1 | 4 | Y | rs28933696 | HGMD CM961043 |
p.Arg182Cys | 8 | 4 | Y | rs28933697 | HGMD CM961044 |
p.Cys144Phe | 3 | 4 | Y | – | HGMD CM001266/HGMD CM001267/HGMD CM003947 |
p.Cys174Arg | 2 | 4 | Y | – | HGMD CM033795 |
p.His170Arg | 2 | 4 | N | rs147373451 | HGMD CM107598 |
p.Arg544Cys | 1 | 11 | Y | rs201118034 | HGMD CM994179 |
p.Arg607Cys | 1 | 11 | Y | – | HGMD CM003019 |
p.Cys579Arg | 1 | 11 | Y | – | HGMD CM121680 |
p.Cys573Gly | 1 | 18 | Y | – | HGMD HM050017 |
p.Arg1031Cys | 1 | 19 | Y | – | HGMD CM971070 |