Exon/intron | DNA Change | Coding Change | Inheritance | Origin | Phenotype | Species | Reference |
---|---|---|---|---|---|---|---|
Exon 1 (p1–120) | c.2T > C | p.M1T | AD | China | Initiation codon mutation | Human | Xiao et al., 2011 [35] |
c.97C > T | p.R33C | AD | China | Missense | Human | Gu et al., 2007 [30] | |
c.319G > A | p.V107I | AD | China | Missense | Human | Wang et al., 2010 [33] | |
c.337C > T | p.R113* | AD | China | Nonsense mutation | Human | Yu et al., 2014 [40] | |
Exon 2 (p121–175) | c.401C > G | p.E134G | AD | UK | Missense | Human | Berry et al., 2000 [28] |
c. 413C > G | p.T138R | AD | UK | Missense mutation | Human | Berry et al., 2000 [28] | |
c.448G > C | p.D150H | AD | China | Missense | Human | Shentu et al., 2015 [41] | |
c.494G > A | p.G165D | AD | South Indian | Missense mutation | Human | Senthilet al., 2013 | |
c.508dupC | p.L170fs | AD | China | Missense | Human | Qin et al., 2016 [43] | |
Exon 3 (p176–202) | c.530A > G | P.Y177C | AD | China | Missense | Human | Yang et al., 2011 [36] |
c.559C > T | p.R187C | AD | China | Missense | Human | Wang et al., 2011 [34] | |
Intron3 | IVS3 − 1G > A |  | AD | China | Splice-acceptor mutation | Human | Jiang et al., 2009 [32] |
(c.606 + 1G > A) |  | AD | China | Splice-donor mutation | Human | Zeng et al., 2013 [38] | |
Exon 4 (p230–263) | c.634G > C | p.G212R | AD | China | Missense | Human | Jiang et al., 2017 [44] |
c.638delG | p.G213fs | AD | US | Frame shift mutation | Human | Geyer et al., 2006 [29] | |
c.644G > A | p.G215D | AD | China | Missense | Human | Ding et al., 2014 [39] | |
c.657C > G | p.Y219* | AD | China | Nonsense mutation | Human | Song et al., 2015 [42] | |
c.682_683delAA | p.K228fs | AD | China | Frame shift mutation | Human | Long et al., 2018 [45] | |
c.702G > A | p.R233K | AD | China | Missense mutation | Human | Lin et al., 2007 [31] | |
Exon 4 | G > A | p.S229N |  | China | Missense | Panda | This study |