Table 1

Parkin mutations identified in 16 Parkinson disease families

Family	No affected	Lod score	Age of onset	Mutation 1	Exon	AA change	Zygosity	Mutation 2	Exon	AA change
*Nucleotides are numbered according to GenBank Accession AB009973 with the A of the initiator ATG numbered as +1.
†Frameshifts are denoted by the amino acid and its number at which the frameshift occurs as recommended by Dunnen and Antonarakis.³⁸
33007	2	0.4031	28, 44	Duplication	7		Hetero
05007	4	0.7164	45, 45, 45, 45	Deletion	3, 4	Gln57fs (+35 aa)†	Homo
15007	2	0.5376	38, 38	c.337-377del*	3	Leu112fs (+50 aa)		Deletion	4, 5, 6
47007	2	0.1719	50, 51	Deletion	8		Hetero
68007	4	1.4682	25, 31, 50, 50	Deletion	3	Gln57fs (+328 aa)		Deletion	2, 3, 4
79007	2	0.3599	24, 30	Deletion	3, 4	Gln57fs (+35 aa)	Homo
71107	2	0.4999	32, 54	c.154del A	2	Arg50fs (+28 aa)	Homo
73107	2	0.3197	34, 36	C823T	7	Arg275Trp		Deletion	3, 4
93107	2	0.1424	48, 50	Duplication	8		Hetero
74107	2	0.547	47, 62	Duplication	5		Hetero
56107	2	0.5147	45, 72	Duplication	3		Hetero
79107	3	0.9522	38, 38, 38	A633T	6	Lys211Asn		Duplication	2, 3
93207	2	0.5538	35, 45	C823T	7	Arg275Trp	Hetero
26207	2	0.5348	59, 65	Duplication	8		Hetero
60307	2	0.4792	22, 38	C823T	7	Arg275Trp		C1310T	12	Pro437Leu
01307	2	0.3999	35, 44	Deletion	6			Deletion	8, 9