728267.fig.002a
(a)
728267.fig.002b
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Figure 2: Pathogenic CDKL5 mutations. (a) Schematic representation of CDKL5115 with the functional domains and signatures indicated. NLS: nuclear localization signal; NES: nuclear export signal. (b) All mutations in CDKL5 reported to date are indicated corresponding to their location within the gene. Mutations shown above the CDKL5 gene are deletion and frame shift mutations as well as splice variants indicated with cDNA nomenclature. Missense and nonsense mutations (fuchsia and black, resp.) are represented with amino acid nomenclature below the CDKL5 gene. *: recurrent mutations; °: uncertain pathogenicity. The indicated mutations have been referred by: t(X;6) [2]; c.-162_99del261 [25]; c.39delT [10]; c.64+2delT [12]; c.99+1G>T [12, 26]; c.99+5G>A [8, 27]; c.100-2°>G [9]; c.145+2T>C [12, 25, 28]; c.229delGAAG [12]; c.183delT [5]; c.163_del166delGAAA [18, 29]; c.275_276insAA [8]; c.283-3_290del [8]; c.del458A>G [9]; c.463+1G>A [9]; IVS6-1G>T [30]; IVS7-2A>G [31]; c.del678_691ins683_673 [30]; c.800_801delAT [12, 26]; t(X;7) [2]; c 838_847del10 [22]; c.865insA [12]; c.903_904dupGA [25]; c.964dupA [18]; IVS11-2°>G [30]; c.1079Tdel [10]; c.1311dupC [12, 26]; c.1784dup [8]; c.1892_1893dupTA [12, 26]; c.2014-2015insC [10]; c.2016delC [12]; c.2045_2046delAGins18 [12, 26]; IVS13-1G>A [5]; c.2066delC [18]; c.2105_2106del [8]; c.2323_2324delGA [12, 26]; c2343delG [22]; c.2362-2366delAAGAAA [30]; IVS16+1G>C/A [30, 31]; c.2376+5G [25]; c.2635_2636delCT [12, 26, 29]; G20R [32]; A40V [9, 12, 26, 33]; R59X [30, 34]; N71D [7]; I72N [31]; I72T [25]; Q118X [12, 26]; H127R [25]; V132G [7]; L142X [12]; C152F [4]; R158 [35]; R175S [4]; R178P [9, 19]; R178W [7, 9]; R178Q [10]; P180L [30]; S196L [32]; E203D [7]; E203X [36]; L220P [12, 26, 33]; L227R [9]; T288I [19]; C291Y [19]; L302F [10]; Q347X [7, 10]; S413X [10]; R550X [25, 28]; R559X [10, 20]; E570X [36]; V718M [12]; Q834X [12, 26, 37]; R952X [6]; R970X [38].