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. Author manuscript; available in PMC: 2014 Feb 25.
Published in final edited form as: Neurobiol Aging. 2010 Jan 19;32(3):548.e5–548.e7. doi: 10.1016/j.neurobiolaging.2009.11.020

Table.

Sequence variants at the parkin and PINK1 loci in 87 MSA cases

Nucleotide

Change
Amino Acid

Change
Location Mutation

Type
Alleles in

Cases
Alleles in

Controls
p value
parkin
   c.258C>T p.Arg42Cys exon 2 missense 1 / 175 0 / 552 0.242
   c.272+25C - intron 2 intronic 34 / 142 115 / 437 0.747
   c.514-20T - intron 3 intronic 13 / 163 44 / 508 0.873
   c.601G>A p.Ser167Asn exon 4 missense 2 / 174 9 / 543 1
   c.835G>A p.Arg234Gln exon 6 missense 1 / 175 0 / 552 0.242
   c.1239G>C p.Val380Leu exon 10 missense 33 / 143 99 / 453 0.823
   c.1281G>A p.Asp394Asn exon 11 missense 12 / 162 14 / 538 0.016
   c.1444C>T p.Pro437Leu exon 12 missense 1 / 175 0 /552 0.242
PINK1
   c.283C>T p.Leu63Leu exon 1 silent 36 / 130 88 / 464 0.101
   c.438A>T p.Gln115Leu exon 1 missense 12 / 154 32 / 520 0.467
   c.482-7A - intron 1 intronic 21 / 147 69 / 483 1
   c.661C>A p.Gly189Gly exon 2 silent 1 / 167 0 / 552 0.233
   c. 1054-5G - intron 4 intronic 20 / 156 67 / 485 0.894
   c.1105C>T p.Arg337Arg exon 5 silent 1 / 175 0 / 552 0.242
   c.1112G>A p.Ala340Thr exon 5 missense 9 / 167 18 / 534 0.257
   c.1189C>T p.Ser365Ser exon 5 silent 1 / 175 0 / 552 0.242
   c.1656A>C p.Asn521Thr exon 8 missense 53 / 121 152 / 400 0.499

mutational screening results of normal controls have been published elsewhere (see Brooks et al., 2009).