Table 3. LYST mutations detected by... | American Society of Hematology

Table 3.

LYST mutations detected by protein truncation test

Patient	Zygosity	DNA Sequence Change	Effect on LYST mRNA	Effect on LYST Protein
1	Homozygous	2620delT	Frameshift	Truncated at position 874
2	Homozygous	C3310T	Nonsense	Truncated at position 1103
5	Heterozygous	5317delA	Frameshift	Truncated at position 1773
6		9228 + 10bpins	Frameshift	Truncated at position 3210
4	Homozygous	del7060-7066	Frameshift	Truncated at position 2354
3	Homozygous	7555delT	Frameshift	Truncated at position 2519
7	Homozygous	del9106-9161	Frameshift	Truncated at position 3036
8	Homozygous	9590delA	Frameshift	Truncated at position 3197

Patient	Zygosity	DNA Sequence Change	Effect on LYST mRNA	Effect on LYST Protein
1	Homozygous	2620delT	Frameshift	Truncated at position 874
2	Homozygous	C3310T	Nonsense	Truncated at position 1103
5	Heterozygous	5317delA	Frameshift	Truncated at position 1773
6		9228 + 10bpins	Frameshift	Truncated at position 3210
4	Homozygous	del7060-7066	Frameshift	Truncated at position 2354
3	Homozygous	7555delT	Frameshift	Truncated at position 2519
7	Homozygous	del9106-9161	Frameshift	Truncated at position 3036
8	Homozygous	9590delA	Frameshift	Truncated at position 3197