Table 1. Distribution of unique mutations/unrelated families/patients in kinase domains of protein kinases.
Kinase | Missense | Nonsense | Insertion | Deletion | Total |
---|---|---|---|---|---|
Protein tyrosine kinases | |||||
Btk | 62/102/120 | 21/37/42 | 10/8/10 | 30/30/33 | 123/147/205 |
FGFR3 | 6/41/43 | 1/1/1 | – | – | 7/42/44 |
IRK | 12/15/22 | – | – | 1/2/2 | 13/17/24 |
JAK3 | 1/1/1 | 1/1/1 | – | 1/1/1 | 3/3/3 |
KIT | 8/10/13 | – | 1/2/2 | 2/2/4 | 11/14/19 |
MET | 9/10/10 | – | – | – | 9/10/10 |
NTRK1 | 6/6/8 | – | – | 1/2/4 | 7/8/12 |
RET | 21/25/150 | 1/1/1 | – | – | 22/26/151 |
ZAP | 1/1/1 | – | 1/2/2 | 1/1/1 | 3/4/4 |
TIE2 | 1/2/65 | – | – | – | 1/2/65 |
Protein serine/threonine kinases | |||||
PAK3 | – | 1/1/4 | – | – | 1/1/4 |
LKB1 | 9/9/9 | 6/6/6 | 6/8/8 | 2/2/2 | 23/25/25 |
KIR3 | 4/4/18 | – | – | – | 4/4/18 |
CDK4 | 3/13/16 | – | – | – | 3/13/16 |
TGR2 | 5/5/5 | – | – | – | 5/5/5 |
RSK2 | 7/7/7 | 6/6/6 | – | 3/3/3 | 16/16/16 |
Total | 155/251/488 | 37/53/61 | 18/20/22 | 41/43/50 | 251/337/621 |