Table 1: A List of all Published Mutations of CADASIL from the Notch3 Gene (Human Gene Mutation Data Base Cardiff
Accession Number |
Codon |
Exon |
Nucleotide |
Amino Acid |
CM971054 |
49 |
2 |
TGT-TAT |
Cys-Tyr |
CM003012 |
54 |
2 |
tCGT-TGT |
Arg-Cys |
CM961042 |
71 |
3 |
TGGg-TGT |
Trp-Cys |
CM023649 |
76 |
3 |
gTGT-CGT |
Cys-Arg |
CM971055 |
90 |
3 |
cCGT-TGT |
Arg-Cys |
CM001263 |
93 |
3 |
TGC-TTC |
Cys-Phe |
CM023650 |
93 |
3 |
TGC-TAC |
Cys-Tyr |
CM971056 |
110 |
3 |
cCGT-TGT |
Arg-Cys |
CM001264 |
117 |
4 |
TGC-TTC |
Cys-Phe |
CM001265 |
123 |
4 |
TGC-TTC |
Cys-Phe |
CM003013 |
123 |
4 |
TGC-TAC |
Cys-Tyr |
CM023651 |
128 |
4 |
TGT-TAT |
Cys-Tyr |
CM971057 |
133 |
4 |
cCGC-TGC |
Arg-Cys |
CM022434 |
134 |
4 |
TGCt-TGG |
Cys-Trp |
CM014589 |
134 |
4 |
TGC-TAC |
Cys-Tyr |
CM971058 |
141 |
4 |
aCGC-TGC |
Arg-Cys |
CM023652 |
142 |
4 |
TTC-TGC |
Phe-Cys |
CM003947 |
144 |
4 |
TGC-TTC |
Cys-Phe |
CM001266 |
144 |
4 |
TGC-TCC |
Cys-Ser |
CM001267 |
144 |
4 |
TGC-TAC |
Cys-Tyr |
CM971059 |
146 |
4 |
cTGC-CGC |
Cys-Arg |
CM001268 |
150 |
4 |
TAC-TGC |
Tyr-Cys |
CM971060 |
153 |
4 |
cCGC-TGC |
Arg-Cys |
CM003014 |
162 |
4 |
gTGC-AGC |
Cys-Ser |
CM961043 |
169 |
4 |
cCGC-TGC |
Arg-Cys |
CM971061 |
171 |
4 |
tGGT-TGT |
Gly-Cys |
CM033795 |
174 |
4 |
cTGC-CGC |
Cys-Arg |
CM014211 |
174 |
4 |
TGC-TTC |
Cys-Phe |
CM001269 |
174 |
4 |
TGC-TAC |
Cys-Tyr |
CM003015 |
180 |
4 |
TCC-TGC |
Ser-Cys |
CM961044 |
182 |
4 |
cCGC-TGC |
Arg-Cys |
CM001270 |
183 |
4 |
cTGC-CGC |
Cys-Arg |
CM001271 |
183 |
4 |
cTGC-AGC |
Cys-Ser |
CM971062 |
185 |
4 |
gTGT-CGT |
Cys-Arg |
CM014590 |
185 |
4 |
gTGT-GGT |
Cys-Gly |
CM023653 |
194 |
4 |
aTGT-CGT |
Cys-Arg |
CM001272 |
194 |
4 |
TGT-TTT |
Cys-Phe |
CM003016 |
194 |
4 |
TGT-TAT |
Cys-Tyr |
CM003017 |
206 |
4 |
TGC-TAC |
Cys-Tyr |
CM003018 |
207 |
4 |
cCGT-TGT |
Arg-Cys |
CM971063 |
212 |
4 |
cTGC-AGC |
Cys-Ser |
CM033796 |
213 |
4 |
AGG-AAG |
Arg-Lys |
CM971064 |
222 |
4 |
cTGT-GGT |
Cys-Gly |
CM023654 |
222 |
4 |
TGT-TAT |
Cys-Tyr |
CM971065 |
224 |
4 |
TGT-TAT |
Cys-Tyr |
CM023655 |
233 |
5 |
tTGT-AGT |
Cys-Ser |
CM023656 |
251 |
5 |
aTGC-CGC |
Cys-Arg |
CM971066 |
258 |
5 |
TAT-TGT |
Tyr-Cys |
CM014070 |
332 |
6 |
cCGC-TGC |
Arg-Cys |
CM023657 |
420 |
8 |
cGGT-TGT |
Gly-Cys |
CM014591 |
428 |
8 |
TGT-TCT |
Cys-Ser |
CM023658 |
440 |
8 |
cTGC-GGC |
Cys-Gly |
CM023659 |
449 |
8 |
cCGC-TGC |
Arg-Cys |
CM021648 |
455 |
8 |
cTGT-CGT |
Cys-Arg |
CM961045 |
542 |
11 |
TGT-TAT |
Cys-Tyr |
CM994179 |
544 |
11 |
tCGC-TGC |
Arg-Cys |
CM961046 |
558 |
11 |
tCGC-TGC |
Arg-Cys |
CM961047 |
578 |
11 |
aCGC-TGC |
Arg-Cys |
CM003019 |
607 |
11 |
cCGC-TGC |
Arg-Cys |
CM971067 |
728 |
14 |
cCGC-TGC |
Arg-Cys |
CM023660 |
953 |
18 |
cGGC-TGC |
Gly-Cys |
CM003020 |
984 |
18 |
TTC-TGC |
Phe-Cys |
CM971068 |
985 |
18 |
cCGC-TGC |
Arg-Cys |
CM971069 |
1006 |
19 |
cCGC-TGC |
Arg-Cys |
CM994180 |
1015 |
19 |
cTGC-CGC |
Cys-Arg |
CM023661 |
1021 |
19 |
TAT-TGT |
Tyr-Cys |
CM971070 |
1031 |
19 |
aCGC-TGC |
Arg-Cys |
CM014592 |
1058 |
20 |
gGGT-TGT |
Gly-Cys |
CM971071 |
1231 |
22 |
cCGT-TGT |
Arg-Cys |
CM961048 |
1261 |
23 |
gTGC-CGC |
Cys-Arg |