Table 4
Amino acid sequence of exons 12 and 18 of wild-type and mutated PDGFRA protein
Exon 12
580
Wild type
L
P
Y
D
S
R
W
E
F
P
Case 4
L
P
Y
G
S
R
W
E
F
P
Case 71
L
P
Y
–
–
–
–
E
F
P
Exon 18
840
Wild type
A
R
D
I
M
H
D
S
N
Y
Cases 41, 54
A
R
V
I
M
H
D
S
N
Y
Case 34
A
R
D
T
–
–
–
–
N
Y
–, deleted amino acid residues.