Mutation Data of the SNCA gene in Parkinson's disease

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).

*1 Abbreviations are as follows: M, Missense.
*2 Abbreviations are as follows: AD, Autosomal Dominant.







Last updated 2 April 1999