Mutation Data of the Parkin gene in autosomal recessive juvenile parkinsonism

Mutation type*1 Mutation position Length of affected nucleotides*2 Nucleotide sequence after mutation Mutation name Case # Consequence Hereditary Pattern Ethnic Origin Symptom Onset Age Reference Memo
LD 172-100 2061   DelEx3-4 3 Deletion from exon3 to exon4 AR*3 Japanese mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms early Hattori, N. et al. Ann. Neurol. 44, 935 (1998b).  
LD 172-100 439   DelEx3 2 Deletion of exon3 AR Japanese mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms early Hattori, N. et al. Ann. Neurol. 44, 935 (1998b).  
LD 413-100 322   DelEx4 3 Deletion of exon4 AR Japanese mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms early (18-27 years) Kitada, T. et al. Nature 392, 605 (1998).  
LD 535-100 284   DelEx5 2 Deletion of exon5 AR Japanese mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms early Hattori, N. et al. Ann. Neurol. 44, 935 (1998b).  
FD 535-1, 536 1   535delG 2 1-bp del G at nucleotide 535-1,535 or 536 --> frameshift at codon 179 AR Japanese mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms early Hattori, N. et al. Ann. Neurol. 44, 935 (1998b).  
LD 172-100 6900   DelEx3-7 1 Deletion from exon3 to exon7 AR Japanese mild foot dystonia, hyperreflexia and diurnal fluctuation of symptoms early (in her teens) Kitada, T. et al. Nature 392, 605 (1998).  
M 719 1 G T240R 1 ACG-AGG --> Thr-Arg at codon 240 AR Turkish tremor and bradykinesia on the right side early (35 years) Hattori, N. et al. Biochem. Biophys. Res. Commun. 249, 754 (1998a).  
N 931 1 T Q311X 1 CAG-TAG --> Gln-Stop at codon311 AR Turkish bradykinesia, rigidity and tremor at rest and in posture early (13 years) Hattori, N. et al. Biochem. Biophys. Res. Commun. 249, 754 (1998a).  
LD 535-100 3537   DelEx5-7 1 Deletion from exon5 to exon7 AR Greek began with tremor and progressed gradually, with an initial favorable response to the administration of L-dopa early (17, 13 years) Leroy, E. et al. Hum. Genet. 103, 424 (1998).  
P 1096 1 T 1096C/T 4.40% polymorphism at ntd 1096 (Arg/Trp 366) - Japanese - - Wang, M. et al. Ann. Neurol. 45, 655 (1999). non-PD individuals
P 1096 1 T 1096C/T 1.20% polymorphism at ntd 1096 (Arg/Trp 366) sporadic Japanese - - Wang, M. et al. Ann. Neurol. 45, 655 (1999). PD patients
P 1138 1 C 1138G/C 2.70% polymorphism at ntd 1138 (Val/Leu 380) sporadic Japanese - - Wang, M. et al. Ann. Neurol. 45, 655 (1999).  
P 500 1 A 500G/A 43.60% polymorphism at ntd 500 (Ser/Asn 167) sporadic Japanese - - Wang, M. et al. Ann. Neurol. 45, 655 (1999).  
FD 101, one of 102~105 2   101delAG 1 2-bp del of AG at ntd 101-> frameshift at codon 34 AR Italian tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa early, late (37, 55 years) Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
FD 101, one of 102~105 2   101delAG 1 2-bp del of AG at ntd 101-> frameshift at codon 34 AR British tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa early, late (39, 53 years) Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
FD 154, 155 1   154delA 2 1-bp del A at ntd 154 -> frameshift at codon 52 AR French tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa early, late (33, 44 years) Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
FI 220 0 GT 220insGT 2 2-bp ins GT at ntd 220 -> frameshift at codon 74 AR French tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa early, late (27, 43 years) Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
M 483 1 T K161N 1 AAA-AAT at ntd 483 -> Lys-Asn at codon 161 AR Italian tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa early, late (37, 55 years) Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
P 500 1 A 500G/A 1% polymorphism at ntd 500 (Ser/Asn 167) - European - - Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
M 766 1 T R256C 1 CGC-TGC at ntd 766 -> Arg-Cys at codon 256 AR German tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa early, late (37, 56 years) Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
M 823 1 T R275W 1 CGG-TGG at ntd 823 -> Arg-Trp at codon 275 AR Italian tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa early, late (36, 47 years) Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
P 1138 1 C 1138G/C 16% polymorphism at ntd 1138 (Val/Leu 380) - European - - Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
P 1180 1 A 1180G/A 7% polymorphism at ntd 1180 (Asp/Asn 394) - European - - Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
M 1244 1 A T415N 2 ACC-AAC at ntd 1244 -> Thr-Asn at codon 415 AR Italian tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa early, late (30, 45, 37, 45 years) Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
N 1358 1 A W453X 2 TGG-TAG at ntd 1358 -> Trp-Stop at codon 453 AR Italian tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa early, late (31, 33, 41 years) Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
S 171+25 1 C IVS2+25T->C 19% T-C at ntd 171+25 in intron 2 -> aberrant splicing - European - - Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
S 413-20 1 T IVS3-20C->T 10% C-T at ntd 413-20 in intron 3 -> aberrant splicing - European - - Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
S 872-35 1 G IVS7-35A->G 27% A-G at ntd 872-35 in intron 7 -> aberrant splicing - European - - Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
LD 413-100 322   DelEx4 2 Deletion of exon4 AR Italian tremor, rigidity and bradykinesia associated with a good response to treatment with levodopa early, late (38, 41, 58 years) Abbas, N. et al. Hum. Mol. Genet. 567, 8 (1999).  
LD 872-100 1412   DelEx8-9 2 Deletion from exon8 to exon9 AR Algerian dystonia, especially of the lower limbs, and early, severe levodopa-induced dyskinesias early (14, 18, 7 years) Lucking, C. B. et al. Lancet 1355, 352 (1998).  
LD 172-100 439   DelEx3 2 Deletion of exon3 AR French dystonia, especially of the lower limbs, and early, severe levodopa-induced dyskinesias, lower frequencies of tremor late (55, 43 years) Lucking, C. B. et al. Lancet 1355, 352 (1998).  
LD 172-100 439   DelEx3 2 Deletion of exon3 AR Portuguese dystonia, especially of the lower limbs, and early, severe levodopa-induced dyskinesias, lower frequencies of tremor early, late (33, 40, 26 years) Lucking, C. B. et al. Lancet 1355, 352 (1998).  
LD 172-100 439   DelEx3 2 Deletion of exon3 AR Jewish of Yemenite origin typical rest tremor, rigidity, bradykinesia, and later postural reflex disturbances that were levodopa responsive and indistinguishable from idiopathic PD early (30, 36, 38 years) Nisipeanu, P.et al. Neurology 1602, 53 (1999).  
P 500 1 A 500G/A 33% polymorphism at ntd 500 (Ser/Asn 167) - Japanese - - Satoh, J. et al. NeuroReport 2735, 10 (1999). non-PD individuals
P 500 1 A 500G/A 39.40% polymorphism at ntd 500 (Ser/Asn 167) sporadic Japanese - - Satoh, J. et al. NeuroReport 2735, 10 (1999). PD patients

*1 Abbreviations are as follows: M, Missense; N, Nonsense; D, Deletion; FD, Frameshift Deletion; LD, Large Deletion; P, Polymorphism; FI, Frameshift Insertion; S, Splicing.
*2 The Lengthes of affected nucleotides about LD are represented by estimate.
*3 Abbreviations are as follows: AR, Autosomal Recessive.






Last updated 31 March 2000