Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary Pattern*2 |
Onset Age |
Ethnic Origin |
Reference |
M |
157 |
1 |
A |
A53T |
3 |
GCA-ACA at ntd 157 -> Ala-Thr at codon 53 |
Parkinson's disease |
resting tremor, muscular rigidity, bradykinesia, and postural instability |
AD |
the mid-30s to the mid-50s |
Greek |
Polymeropoulos, M. H. et al., Science 276, 2045 (1997). |
M |
157 |
1 |
A |
A53T |
1 |
GCA-ACA at ntd 157 -> Ala-Thr at codon 53 |
Parkinson's disease |
resting tremor, muscular rigidity, bradykinesia, and postural instability |
AD |
46 ± 13 |
Italian |
Polymeropoulos, M. H. et al., Science 276, 2045 (1997). |
M |
88 |
1 |
C |
A30P |
1 |
GCA-CCA at ntd 88 -> Ala-Pro at codon 30 |
Parkinson's disease |
walking impairment, freezing phenomena and difficulties in the initiation of movement |
AD |
52-56 |
German |
Kruger, R. et al., Nat Genet 18, 106 (1998). |