TABLE 1

Missense mutations in the coding region of RGS2 used in this study

ExAC denotes the Exome Aggregation Consortium (http://exac.broadinstitute.org).

Mutation IDMissense VariantAllele Count
(ExAC)Codon ChangeReference
NAQ2La2/121304CAA > CTAYang et al. (2005); Lek et al. (2016)
rs141030117Q2R65/121312CAA > CGAYang et al. (2005); Lek et al. (2016)
rs145125159S3G32/121316AGT > AGCYang et al. (2005); Lek et al. (2016)
rs142499684A4V4/121338GCT > GTTLek et al. (2016)
rs193051407M5V82/121346ATG > GTGYang et al. (2005); Lek et al. (2016)
rs74466425K18N34/121370AAG > AACLek et al. (2016)
rs148489044G23D66/121358GGC > GACLek et al. (2016)
rs201233692D40Y62/118360GAT > TATLek et al. (2016)
rs200339834R44Ha12/119308CGT > CATYang et al. (2005); Lek et al. (2016)
rs80221024Q50K103/119910CAA > AAALek et al. (2016)
rs140811638P55L6/120456CCT > CTTLek et al. (2016)
NAQ78H3/2055CAG > CACYang et al. (2005)
rs139237239A99G2/121332GCT > GGTLek et al. (2016)
rs146862218I110V53/121334ATT > GTTLek et al. (2016)
rs369752935R188H4/121388CGT > CATLek et al. (2016)
rs112707798Q196R18/121352CAG > CGGLek et al. (2016)

  • NA, not applicable.

  • ↵a RGS2 mutations were found in disease cohort (Yang et al., 2005).