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. Author manuscript; available in PMC: 2015 Jul 1.
Published in final edited form as: Neurochem Int. 2013 Dec 8;73:56–70. doi: 10.1016/j.neuint.2013.11.009

Table 1.

Disease-associated DAT coding variants. ADHD = attention deficit hyperactivity disorder; DTDS = dopamine transporter deficiency syndrome (juvenile dystonia/Parkinsonism).

Variant Disease Association References
Val24Met ADHD M. Mergy, unpublished findings
Val55Ala ? Vandenbergh et al. (2000)
Val158Phe DTDS Kurian et al., 2011
Leu167Phe ADHD M. Mazei-Robison, unpublished findings
Leu224Pro DTDS Kurian et al. (2011)
Arg237Gln ? Cargill et al., 1999
Gly327Arg DTDS Kurian et al. (2011)
Leu368Gln DTDS Kurian et al. (2009, 2011)
Val382Ala ? Vandenbergh et al. (2000)
Pro395Leu DTDS Kurian et al. (2009, 2011)
Arg521Trp DTDS Kurian et al. (2011)
Pro529Leu DTDS Kurian et al. (2011)
Pro554Leu DTDS Kurian et al. (2011)
Ala559Val Bipolar, ADHD Grünhage et al. (2000); Mazei-Robison et al. (2005)
Glu602Gly Bipolar Grünhage et al. (2000)
Arg615Cys ADHD Sakrikar et al. (2012)