Table 4. ATM mutations in CLL patients... | American Society of Hematology

Table 4.

ATM mutations in CLL patients with type B p53 dysfunction

Case	Mutation	Predicted codon change	Presence of mutation at DNA level	Other changes
6	404 delC	Frameshift at 135	Yes	6795 C→T (silent F→F)
	1426 insA	Frameshift at 475	Yes
8	3848 T→C	1283 L→P	ND
	5945 A→C	1982 Q→P	ND
19	IVS7-4delT	Not clear^4-150	Yes
	IVS11-2insT	Not clear^4-150	Yes
	7205 A→G	2402 E→G	Yes
24	2875 del2nt	Frameshift at 959	ND	4473 C→T (silent F→F)
35	5188 C→T	1730 R→stop	ND
	6056 A→G	2019 Y→C	ND
36	5134 T→A	1712 F→I	ND
40	8535 del5nt	2845 W→stop	Yes

Case	Mutation	Predicted codon change	Presence of mutation at DNA level	Other changes
6	404 delC	Frameshift at 135	Yes	6795 C→T (silent F→F)
	1426 insA	Frameshift at 475	Yes
8	3848 T→C	1283 L→P	ND
	5945 A→C	1982 Q→P	ND
19	IVS7-4delT	Not clear^4-150	Yes
	IVS11-2insT	Not clear^4-150	Yes
	7205 A→G	2402 E→G	Yes
24	2875 del2nt	Frameshift at 959	ND	4473 C→T (silent F→F)
35	5188 C→T	1730 R→stop	ND
	6056 A→G	2019 Y→C	ND
36	5134 T→A	1712 F→I	ND
40	8535 del5nt	2845 W→stop	Yes

Tumor cells from the 7 patients with type B p53 dysfunction were subjected to ATM mutation analysis. Eight overlappingATM fragments were obtained for each patient and analyzed by both REF and sequencing of the complete coding region of theATM gene. Mutations were confirmed at the DNA level where indicated. Nucleotide positions relate to cDNA and are numbered from the ATG codon. ND, not done.

F4-150

Two of the mutations in patient 19 were identified at the DNA level only. Their consequences at the RNA and protein levels cannot, therefore, be entirely predicted. However, both errors are located at the intron/exon boundary, and it is likely that they result in the skipping of exons 8 and 12, respectively.

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