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. 2021 May 26;49(5):03000605211017063. doi: 10.1177/03000605211017063

Table 3.

Neuropsychiatric disorders of reported variants in different regions of the CK2α protein

Individual
Mutation Reference Age (y) Sex NPD
No. Structural domain Seizure Dystonia ASD ADHD Sleep Temper MD ID/GDD Score
1 ATP/GTP binding loop 1 p.R47Q 5 6.1 M + + + + 4
2 2 p.R47Q 3 6 F + + + + + 5
3 3 p.R47Q 11 2 F + + + + + 5
4 4 p.Y50S 3 2 F + + + + + 5
5 5 p.Y50C 13 8 M + + + + + + + + 8
6 6 p.Y50C 12 5 F + + + + + + + 7
7 7 p.S51R 11 4 M + + + + + + + + 8
8 8 p.S51Y 5 11.1 F + 1
9 Basic cluster 1 p.V73E 11 8 M + + 2
10 2 p.R80H 5 10.7 M + + + + 4
11 3 p.R80C Current report 2 M + 1
12 Active site 1 p.D156H 9 7 M + + + 3
13 Non-specific kinase domain 1 c.824 + 2T>C 3 13 F + + + 3
14 2 p.P231R 11 4 M + + + + 4
15 3 p.R312W 5 6 F + + + 3
16 4 p.R312Q 11 14 M + 1
17 5 p.H160R Current report 3 F + 1
18 Non-kinase domain 1 p.M1V 11 2.5 F + + + 3
19 2 p.E27K 11 14 M + + + + + 5
20 3 c.1061-1G>C 7 1 M + + + 3
21 Activation segment 1 p.I174M 5 10.9 M + + + 3
22 2 p.R191Q 5 10 F + + 2
23 3 p.D175G 8 1.7 M + + 2
24 4 p.R191* 4 1.7 M + + 2
25 5 p.K198R 10 8 M + + + + 4
26 6 p.K198R 4 15 F + + + 3
27 7 p.F197I 5 8 F + 1
28 8 p.K198R 5 7.3 F + + + + + 5
29 9 p.K198R 5 10.9 M + 1
30 10 p.K198R 5 18.3 M + + + 3
31 11 p.K198R 5 18.7 F + + 2
32 12 p.K198R 11 5 M 0
33 13 p.K198R 3 4.5 F + + + 3
34 14 p.K198R 14 6.8 M + + + 3
35 15 p.D175G 3 4 F + + + + 4

Y, years; M, male; F, female; NPD: Neuropsychiatric disorders; GDD: Global developmental delay; ID: Intellectual disability; ASD: Suspected/diagnostic autism spectrum disorders; ADHD: Suspected/diagnostic attention deficit hyperactivity disorder; MD: Motor disorders; Sleep: Sleep problems; Temper: Temper tantrums/socially inappropriate behavior