Table 3. Fourteen Different Insertions... | American Society of Hematology

Table 3.

Fourteen Different Insertions and Deletions in SCID Patients With IL2RG Defects

IL2RG Exon	cDNA Mutation	Nucleotide Sequence Context	Codon	Protein Alteration	mRNA Detected^3-150	γc on Cell Surface^3-151	Reference^3-152
1	67delTG	Follows 10-bp inverted repeat	L18	Frame shift, signal	NA	−
				Peptide
2	140delG	Follows 9-bp polypyrimidine	L42	Frame shift	Trace	−
3	373insA	Within 7-bp poly-A	K120	Frame shift	−	−
	398delT, 406delAGCT	Complex deletion	F128	Frame shift	−	−
	447delA	Follows 2-bp repeat	M145	Frame shift	−	−
4	534delTGGAAC	Imperfect double inverted repeat; deletion motif	WN174-5	Delete 2 amino acids	+	−
	542delCA	Same as above	N176	Frame shift	−	−
5	707delTG	Slippage in 2-bp repeat	C231	Frame shift	−	−
	725duplication9bp	Flanking inverted repeat	QHW235-7	Repeat 3 amino acids	+	+	9
6	833delT	Inverted repeat; del. motif	I273	Frame shift	NA	NA
	835insAT	Same as above	I274	Frame shift	+	+
	851delGT	Slippage in 2-bp repeat	V279	Frame shift	+	+
7	922insTA	Del. motif	Y303	Frame shift	NA	NA
	924delC	Same as above	H304	Frame shift	+	+

IL2RG Exon	cDNA Mutation	Nucleotide Sequence Context	Codon	Protein Alteration	mRNA Detected^3-150	γc on Cell Surface^3-151	Reference^3-152
1	67delTG	Follows 10-bp inverted repeat	L18	Frame shift, signal	NA	−
				Peptide
2	140delG	Follows 9-bp polypyrimidine	L42	Frame shift	Trace	−
3	373insA	Within 7-bp poly-A	K120	Frame shift	−	−
	398delT, 406delAGCT	Complex deletion	F128	Frame shift	−	−
	447delA	Follows 2-bp repeat	M145	Frame shift	−	−
4	534delTGGAAC	Imperfect double inverted repeat; deletion motif	WN174-5	Delete 2 amino acids	+	−
	542delCA	Same as above	N176	Frame shift	−	−
5	707delTG	Slippage in 2-bp repeat	C231	Frame shift	−	−
	725duplication9bp	Flanking inverted repeat	QHW235-7	Repeat 3 amino acids	+	+	9
6	833delT	Inverted repeat; del. motif	I273	Frame shift	NA	NA
	835insAT	Same as above	I274	Frame shift	+	+
	851delGT	Slippage in 2-bp repeat	V279	Frame shift	+	+
7	922insTA	Del. motif	Y303	Frame shift	NA	NA
	924delC	Same as above	H304	Frame shift	+	+

Abbreviation: NA, not available.

By Northern blot.

By cell surface IF staining with TUGh4 antibody.

Previous publications, including those by our group, clinical reports, and identical mutations found by others.