Table 3. Truncating Mutations of NF1... | American Society of Hematology

Table 3.

Truncating Mutations of NF1 Found in 20 Children With JMML

Patient No.	Mutation Site	Alteration in cDNA Sequence	Effect on Protein
6	Intron 34, splice donor sequence	17 nucleotides spliced between exons 34 and 35	Truncation at codon 2195
11	Intron 10c, splice acceptor sequence	7 nucleotides spliced between exons 10c and 11	Truncation at codon 555
14	Exon 27a	4614 G to A	Tryptophan to stop at codon 1538

Patient No.	Mutation Site	Alteration in cDNA Sequence	Effect on Protein
6	Intron 34, splice donor sequence	17 nucleotides spliced between exons 34 and 35	Truncation at codon 2195
11	Intron 10c, splice acceptor sequence	7 nucleotides spliced between exons 10c and 11	Truncation at codon 555
14	Exon 27a	4614 G to A	Tryptophan to stop at codon 1538