Table 3 Mutations identified in the GRC Custom 5-gene panel stratified according to the exon, number of samples and, in some cases, the different genes (NOTCH3, CACNA1A and ATP1A2)
From: Investigating diagnostic sequencing techniques for CADASIL diagnosis
| Mutation | No. of samples | Cysteine altering | Exon/intron | Between exons 2 and 24 | rs number | HGMD disease causing |
|---|---|---|---|---|---|---|
| p.Arg54Cys | 2 | Y | 2 | Y | – | HGMD CM003012 |
| p.Asp45His | 1 | N | 2 | Y | rs142031490 | – |
| p.Gly53Ser | 1 | N | 2 | Y | – | HGMD CM106869 |
| p.Arg113Ter | 1 | N | 3 | Y | – | – |
| p.Arg90Cys | 1 | Y | 3 | Y | – | HGMD CM971055 |
| p.Arg133Cys | 1 | Y | 4 | Y | rs137852642 | HGMD CM971057 |
| p.Arg141Cys | 2 | Y | 4 | Y | – | HGMD CM971058 |
| p.Arg153Cys | 3 | Y | 4 | Y | – | HGMD CM971060 |
| p.Arg169Cys | 1 | Y | 4 | Y | rs28933696 | HGMD CM961043 |
| p.Arg182Cys | 2 | Y | 4 | Y | rs28933697 | HGMD CM961044 |
| p.Asp139Val | 1 | N | 4 | Y | rs766608781 | – |
| p.Cys183Arg | 1 | Y | 4 | Y | – | HGMD CM001270 |
| p.Cys224Tyr | 1 | Y | 4 | Y | – | HGMD CM971065 |
| p.Asp239Asn | 1 | N | 5 | Y | – | – |
| p.Cys233Tyr | 1 | Y | 5 | Y | – | HGMD CM052273 |
| p.Cys260Arg | 2 | Y | 5 | Y | – | HGMD CM095351 |
| p.Arg332Cys | 1 | Y | 6 | Y | rs137852641 | HGMD CM014070 |
| p.Cys271Tyr | 1 | Y | 6 | Y | – | HGMD CM060011 |
| p.Cys291Ser | 1 | Y | 6 | Y | – | – |
| p.Cys318Phe | 1 | Y | 6 | Y | – | – |
| p.Ser299Arg | 1 | N | 6 | Y | – | – |
| p.Arg449Cys | 1 | Y | 8 | Y | – | HGMD CM023659 |
| p.Cys473Leu | 1 | Y | 9 | Y | – | – |
| p.Gly490Ala | 1 | N | 9 | Y | rs374248747 | – |
| p.Tyr465Cys | 1 | Y | 9 | Y | – | HGMD CM035647 |
| p.Thr514Met | 1 | N | 10 | Y | – | – |
| p.Arg544Cys | 1 | Y | 11 | Y | rs201118034 | HGMD CM994179 |
| p.Arg587Cys;Arg587Cys | 1 | Y | 11 | Y | – | HGMD CM061879 |
| p.Arg607His | 1 | N | 11 | Y | rs747661515 | HGMD CM003019 |
| p.Asp547Gly | 1 | N | 11 | Y | – | – |
| p.Cys597Trp | 1 | Y | 11 | Y | – | – |
| p.Arg640Cys | 1 | Y | 12 | Y | – | HGMD CM125168 |
| p.Arg640Cys | 1 | Y | 12 | Y | – | HGMD CM125168 |
| p.Val644Asp | 1 | N | 12 | Y | rs148046938 | – |
| p.Pro857Leu | 1 | N | 17 | Y | – | – |
| p.Cys977Gly | 1 | Y | 18 | Y | – | HGMD CM050017 |
| p.Arg1006Cys | 1 | Y | 19 | Y | – | HGMD CM971069 |
| p.Arg1100Leu | 1 | N | 20 | Y | – | – |
| p.Tyr1106Cys | 1 | Y | 20 | Y | – | – |
| p.Cys1119Tyr | 1 | Y | 21 | Y | – | – |
| p.Arg1231Cys | 1 | Y | 22 | Y | rs201680145 | HGMD CM971071 |
| p.Arg587Ser | 1 | N | 22 | Y | – | HGMD CM061879 |
| p.Leu1518Met | 1 | N | 25 | N | rs148166997 | HGMD CM119551 |
| p.Glu2268Lys | 1 | N | 33 | N | – | – |
| p.Pro2178Ser | 1 | N | 33 | N | – | – |
| chr19:15311579_15311580delinsTA | 1 | N | Intron 1 | N | – | – |
| p.Ala987Ser (CACNA1A) | 1 | – | – | – | – | – |
| p.Asp1723Asn (CACNA1A) | 1 | – | – | – | rs368257155 | – |
| p.Glu219Gln (ATP1A2) | 1 | – | – | – | – | – |