. Author manuscript; available in PMC: 2014 Oct 13.

Published in final edited form as: Leukemia. 2012 Mar 5;26(8):1797–1803. doi: 10.1038/leu.2012.60

Table 3. Sequence mutations of CREBBP in 16 HD ALL relapse cases.

Sample ID	Exon	Nucleotide change	AA change	Affected domain
Non-synonymous SNPs
2D+R	25	c.4232G>A	G1411E	HAT
3R	25	c.4231G>A	G1411R	HAT
3R	25	c.4262G>A	C1421Y^a	HAT
7D	27	c.4471C>A	Q1491K	HAT
7R	27	c.4448T>C	I1483T	HAT
10R	26	c.4304A>G	D1435G	HAT
11D+R+C	2	c.166A>T	S56C^a	Interdomain region
15D+R	26	c.4337G>A	R1446H^b	HAT
Frameshift/splice site mutation
1D+R	8	c.1744_1745delCCinsTTT	P582PhefsX4	KIX
4R	21	c.3836+1G>A	splicing	HAT

Abbreviations: AA, amino acid; ALL, acute lymphoblastic leukemia; D, diagnosis; HD, hyperdiploid; R, relapse. Reference sequence: NM_004380.2. Accession numbers of CREBBP mutations (NCBI dbSNP database http://www.ncbi.nlm.nih.gov/projects/SNP/): ID1, ss 479152796; ID2, 479152787; ID3 G1411R, 479152788; ID3 C1421Y, 479152789; ID4, 479152795; ID7 Q1491K, 479152790; ID7 I1483T, 479152791; ID10, 479152792; ID11, 479152793.

Mutation predicted to be less likely to affect protein function by Align-GVGD analysis.

Functionally relevant mutation reported by Mullighan et al.¹⁵