Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Symptom*2 |
Hereditary Pattern |
Ethnic Origin |
Onset Age |
Reference |
M |
772 |
1 |
A |
E258K |
7 |
GAG-AAG at ntd 772 -> Glu-Lys at codon 258 |
1 |
AD*3 |
ND*4 |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
M |
1351 |
1 |
C |
E451Q |
20 |
GAG-CAG at ntd 1351 -> Glu-Gln at codon 451 |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
M |
1484 |
1 |
A |
R495Q |
6 |
CGG-CAG at ntd 1484 -> Arg-Gln at codon 495 |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
M |
1505 |
1 |
A |
R502Q |
16 |
CGG-CAG at ntd 1505 -> Arg-Gln at codon 502 |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
FD |
2093, 4, 5 or 6 |
1 |
|
2095delC |
11 |
1-bp del C at ntd 2093, 4, 5 or 6 -> frameshift at codon 699 |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
FD |
2864 |
2 |
|
2864delCT |
18 |
2-bps del CT at ntd 2864 -> frameshift at codon 955 |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
FI |
2373 |
0 |
G |
2373insG |
115 |
1-bp ins G at nt 2373 -> frameshift at codon 792 |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
FI |
3126 |
0 |
AA |
3126insAA |
15 |
2-bps ins AA at ntd 3126 -> frameshift at codon 1043 |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
S |
851+1 |
1 |
A |
851+1G->A |
9 |
G-A at ntd 851+1 in IVS 8 -> aberrant splicing |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
S |
1091-2 |
1 |
G |
1091-2A->G |
26 |
A-G at ntd 1091-2 in IVS 12 -> aberrant splicing |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
S |
2413+1 |
1 |
T |
2413+1G->T |
7 |
G-T at ntd 2413+1 in IVS 24 -> aberrant splicing |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
S |
3814+1 |
1 |
A |
3814+1G->A |
25 |
G-A at ntd 3814+1 in IVS 33 -> aberrant splicing |
1 |
AD |
ND |
58% under 50 years age |
Niimura (1998) N Engl J Med 338, 1248 |
M |
1624 |
1 |
C |
E542Q |
1 |
GAA-CAA at ntd 1624 -> Glu-Gln at codon 542 |
ND |
AD |
French |
One is a very late onset (59years), the others are 10, 32, 33 years. |
Carrier (1997) Circ Res 80, 427 |
FD |
2534 |
5 |
|
2534del5 |
1 |
5-bps del GCGTC at ntd 2534 -> frameshift at codon 845 |
ND |
AD |
French |
One is a very late onset (59years), the others are 10, 32, 33 years. |
Carrier (1997) Circ Res 80, 427 |
ID |
3659 |
4 |
TTCAAGAATGGC |
3659indelACTT->12bps |
1 |
4-bps del ACCT and 12-bps ins TTCAAGAATGGC at nt 3659 |
ND |
AD |
French |
One is a very late onset (59years), the others are 10, 32, 33 years. |
Carrier (1997) Circ Res 80, 427 |
S |
821+5 |
1 |
A |
821+5G->A |
1 |
G-A at ntd 821+5 in IVS 7 -> aberrant splicing |
ND |
AD |
French |
One is a very late onset (59years), the others are 10, 32, 33 years. |
Carrier (1997) Circ Res 80, 427 |
S |
2309-26 |
1 |
G |
2309-26A->G |
1 |
A-G at ntd 2309-26 in IVS 23 -> aberrant splicing |
ND |
AD |
French |
One is a very late onset (59years), the others are 10, 32, 33 years. |
Carrier (1997) Circ Res 80, 427 |
S |
2308+1 |
1 |
A |
2308+1G->A |
1 |
G-A at ntd 2308+1 in IVS 23 -> aberrant splicing |
ND |
AD |
French |
One is a very late onset (59years), the others are 10, 32, 33 years. |
Carrier (1997) Circ Res 80, 427 |
M |
1961 |
1 |
A |
R654H |
1 |
CGC-CAC at ntd 1961 -> Arg-His at codon 654 |
2 |
AD |
south African |
under 40 years age |
Moolman-Sm (1998) J Med Genet 35, 253 |
M |
2265 |
1 |
A |
N755K |
1 |
AAC-AAA at ntd 2265 -> Asn->Lys at codon 755 |
3 |
AD |
Australian |
One died at 47 years. |
Yu (1998) J Med Genet 35, 205 |
N |
2905 |
1 |
T |
Q969X |
1 |
CAA-TAA at ntd 2905 -> Gln-Stop at codon 969 |
3 |
AD |
Australian |
One died at 47 years. |
Yu (1998) J Med Genet 35, 205 |
S |
as-2 |
1 |
G |
|
25 |
A->G at nt ? |
4 |
AD |
French |
ND |
Bonne (1995) Nat Genet 11, 438 |
S |
ds+5 |
1 |
C |
|
1 |
G->C at nt ? |
5 |
AD |
ND |
One is teenager, the other is over 35 years. |
Watkins (1995) Nat Genet 11, 434 |
I |
3507 |
0 |
GGGGGCATCTATGTCTGC |
3507ins18 |
1 |
18-bps ins GGGGGCATCTATGTCTGC at ntd 3507 |
5 |
AD |
ND |
One is teenager, the other is over 35 years. |
Watkins (1995) Nat Genet 11, 434 |
S |
3490+1 |
1 |
A |
3490+1G->A |
1 |
G-A at ntd 3490+1 in IVS 31 -> aberrant splicing |
6 |
AD |
German and Turkish |
ND |
Rottbauer(1997) J Clin Invest 100, 475 |