Table 3.
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