Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Symptom |
Hereditary pattern*3 |
Onset |
Reference |
M |
2453 |
1 |
A |
G818E |
1 |
GGG-GAG --> Gly-Glu at codon 818 |
1*2 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
P |
2536 |
1 |
C |
2536G/C |
1 |
GAT-CAT --> Asp-His at codon 846 |
- |
- |
- |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
2588 |
1 |
C |
G863A |
3 |
GGA-GCA --> Gly-Ala at codon 863 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
2791 |
1 |
A |
V931M |
1 |
GTG-ATG --> Val-Met at codon 931 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
P |
2828 |
1 |
A |
2828G/A |
4 |
CGG-CAG --> Arg-Gln at codon 943 |
- |
- |
- |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
FD |
2884 |
1 |
|
2884delC |
1 |
1-bp del C at nucleotide 2884 --> frameshift at codon 962 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
2893 |
1 |
G |
N965D |
1 |
AAT-GAT --> Asn-Asp at codon 965 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
3083 |
1 |
T |
A1028V |
5 |
GCC-GTC --> Ala-Val at codon 1028 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
FI |
3211 |
0 |
GT |
3211insGT |
1 |
2-bp ins GT at nucleotide 3211 --> frameshift at codon 1070 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
3215 |
1 |
C |
V1072A |
1 |
GTT-GCT --> Val-Ala at codon 1072 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
3259 |
1 |
A |
E1087K |
1 |
GAA-AAA --> Glu-Lys at codon 1087 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
FD |
4726 |
1 |
|
4728delC |
1 |
1-bp del C at nucleotide 4726 --> frameshift at codon 1576 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
D |
5041 |
15 |
|
5041del15 |
1 |
15-bp del at nucl. 5041-5055 --> del VVAIC at codon1681-1685 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
S |
5196+2 |
1 |
C |
5196+2T->C |
1 |
nucleotide 5196+2T-C --> splice donor site change after codon 1694 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
S |
6005+1 |
1 |
T |
6005+1G->T |
1 |
nucleotide 6005+1G-T --> splice donor site changeafter codon 1965 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
P |
6069 |
1 |
T |
6069C/T |
5 |
ATC-ATT --> Ile-Ile at codon 2023 |
- |
- |
- |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
6079 |
1 |
T |
L2027F |
3 |
CTC-TTC --> Leu-Phe at codon 2027 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
6112 |
1 |
T |
R2038W |
1 |
CGG-TGG --> Arg-Trp at codon 2038 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
6148 |
1 |
C |
V2050L |
2 |
GTT-CTT --> Val-Leu at codon 2050 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
6229 |
1 |
T |
R2077W |
1 |
CGG-TGG --> Arg-Trp at codon 2077 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
P |
6249 |
1 |
T |
6249C/T |
6 |
ATC-ATT --> Ile-Ile at codon 2083 |
- |
- |
- |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
M |
6316 |
1 |
T |
R2106C |
1 |
CGC-TGC --> Arg-Cys at codon 2106 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
P |
6342 |
1 |
A |
6342G/A |
1 |
GTG-GTA --> Val-Val at codon 2114 |
- |
- |
- |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |
FI |
6709 |
0 |
G |
6709insG |
1 |
1-bp ins G at nucleotide 6709 --> frameshift at codon 2237 |
1 |
AR |
early |
Allikmets,R.et al. Nature Genet 15, 2 (1997). |