Figure 3 of Steele et al
Figure 3a. Sequence of normal (top), heterozygous mutant (middle), and homozygous mutant (bottom) Lim2 exon 2 coding region.
Sequence data shown is antisense sequence. The shown C -> A transversion corresponds to a G -> T transversion in the coding strand, which results in the nonconservative substitution of Val (GTG) for Gly (GGG) at amino acid position 15 in the mutant polypeptide. (Transversion peaks at arrows and transversion positions underlined.)
Figure 3b. The G ->T transversion in the mutant coding strand creates a unique BstEII restriction endonuclease recognition site and substitutes Val for Gly at amino acid 15 in the encoded polypeptide.
To3/To3 GCC TGG GTG GTG ACC ATC CTG
ALA TRP VAL VAL THR ILE LEU
+/+ 5'...GCC TGG GTG GGG ACC ATC CTG ...3'
ALA TRP VAL GLY THR ILE LEU
BstEII To3/To3 GCC TGG GTG GTG ACC ATC CTG ALA TRP VAL VAL THR ILE LEU