KDM6A mutations promote acute cytoplasmic DNA release, DNA damage response and mitosis defects

Table 1 Specific activity of substitution variants

No.	KDM6A variant, affected domain	Specific activity [10^− 3 μmol min^− 1 mg^− 1]
1	WT	2.15 ± 0.24
2	E315Q, TPR	3.96 ± 0.58
3	D336G, TPR	3.76 ± 0.89
4	T726K, IDR	0.69 ± 0.10
5	T726V, IDR	1.54 ± 0.11
6	P966R, JmjC	< 0.07 ± 0.03
7	Q1133A, JmjC	< 0.09 ± 0.02
8	H1329A, JmjC	0.28 ± 0.05
9	V1338F, JmjC	0.29 ± 0.03
10	C1361Y, JmjC	< 0.12 ± 0.03

Specific activity of KDM6A variants depends strongly on the mutation site. Mutations affecting the JmjC domain impair catalytic activity, whereas TPR substitution mutation enhanced activity. The IDR mutation T726K showed time-dependent diminution of activity. Specific activity was calculated as described in Figure S2

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