Table 1.

Alternative loss of function of the 7 CSD TP53 variants.

TP53 variant1	Activity2			Occurrence in UMD3	Position in the TP53 gene	Potential loss of function
	Score according to Kato et al.4	Score according to Kotler et al.5	Score according to Giacomelli et al.6
p.E224D	0.91	0.65	0.56	48	Last Base Exon	Splice variant
p.V218G	0.86	0.20	0.20	35	Exon	Differential loss of activity in yeast and mammalian cells
p.G187S	0.72	0.57	0.55	34	Exon	Splice variant
p.A138V	0.67	0.13	0.35	126	Exon	Thermosensitive; differential loss of activity in yeast and mammalian cells
p.S106R	0.51	0.69	0.63	39	Exon	RNA destabilization; possible splicing defect
p.R181H	0.44	0.61	0.50	77	Exon	Position 181 is known to impair TP53 for specific functions7
p.R181C	0.40	0.65	0.58	103	Exon

¹The sequence nomenclature used for TP53 variants in this work is in accordance with the Human Genome Variation Society's guidelines using the NM_000546.5 transcript sequence and the full-length protein NP_000537.3.

²TP53 functional data were scaled in the range of 0 to 1 with 0 corresponding to the lowest activity of TP53 variants.

³Number of tumors expressing each TP53 variant included in the TP53_UMD.

⁴Data from the transcriptional activity performed in yeast using 8 different p53 response elements (mean of the activities for the 8 readouts) from the work of Kato et al.⁹.

⁵Score from the growth arrest assay in H1299 cells performed by Kotler et al.¹¹.

⁶Mean score from the three assays performed by Gacomelli et al.¹² (see "Methods" for a full description of the assays).

⁷Both in vitro studies and mouse models indicate that these variants are functionally defective^21,32.