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 | – | – | – | – | – |