Table 4.

Variants in PINK1 in 250 and 276 controls

Nucleotide	Location/rs number	Amino acid change	Mutation type	Genotypes in cases A1A1/A1A2/A2A2)	Genotypes in controls (A1A1/A1A2/A2A2)	MAF cases/controls	Ref.
Novel mutation that is likely to be pathogenic
c.1374CR A	Exon 7	p.Ala427Glu	Missense	0/2/248	0/0/276	0.004/0.000	–
Novel mutation of unknown significance
c.249CR T	Exon 1	p.Pro52Leu	Missense	0/1/249	0/0/276	0.002/0.000	–
Novel mutation that is likely to be non-pathogenic
c.1354GR A	Exon 7	p.Thr420Thr	Silent	0/1/249	0/0/276	0.002/0.000	–
Previously described mutation that is likely to be pathogenic
c.1046AR T	Exon 4	p.Met318Leu	Missense	0/1/249	0/0/276	0.002/0.000	34,35
Previously described mutations with unknown significance
c.1109GR A	Exon 5/rs55831733	p.Ala339Thr	Missense	0/2/248	0/0/276	0.004/0.000	34
c.1325GR A	Exon 6/rs45478900	p.Gly411Ser	Missense	0/0/250	0/1/275	0.000/0.002	36
c.1667GRA	Exon 8	p.Asp525Asn	Missense	0/1/249	0/0/276	0.002/0.000	37
c.1822AR G	Exon 8	p.Ser576Ser	Silent	0/1/249	0/0/276	0.002/0.000	34
Previously described mutations that are likely to be non-pathogenic
c.1030GR A	Exon 4/rs56200357	p.Arg312Arg	Silent	0/1/249	0/0/276	0.002/0.000	2
c.1267TR C	Exon 6/rs45499398	p.Asp391Asp	Silent	0/1/249	0/0/276	0.002/0.000	34,38
Previously described polymorphisms
c.283CR T	Exon 1	p.Leu63Leu	Silent	9/81/160	5/78/193	0.198/0.159	34
c.438AR T	Exon 1	p.Gln115Leu	Missense	0/17/233	0/32/244	0.034/0.058	18
c.482−7A	Intron 1/rs2298298	–	Intronic	2/48/200	3/63/210	0.104/0.125	34
c.1054−5G	Intron 4/rs3131713	–	Intronic	2/51/197	2/63/211	0.110/0.121	34
c.111 MR A	Exon 5/rs3738136	p.Ala340Thr	Missense	1/33/216	0/18/258	0.070/0.033	34
c.1656AR C	Exon 8/rs1043424	p.Asn521Thr	Missense	15/110/125	21/110/145	0.280/0.275	34

Genotype distribution of the major allele (A₂) and minor allele (A₁) is described for each variant.

MAF, minor allele frequency.