De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm

BMC Genomics

Table 2 Comparison of the observed number of nonsense de novo mutations to the simulated frequency predicted by our sequence context model

Amino Acid	99% CI of simulation	Observed variants	Empirical P
Lysine	[0, 11]	3	0.336
Serine	[2, 15]	6	0.404
Leucine	[1, 13]	5	0.454
Glutamine	[5, 23]	15	0.385
Tryptophan	[1, 13]	3	0.126
Arginine	[73, 104]	95	0.188
Glutamic	[4, 20]	14	0.243
Glycine	[0, 6]	3	0.211
Cysteine	[0, 7]	1	0.399
Tyrosine	[2, 16]	5	0.143
Arginine Codon	99% CI of simulation	Observed variants	Empirical P
CGA	[73, 104]	93	0.237
AGA	[0, 4]	2	0.209

Data shown for all amino acids which can change to a stop codon as well as Arginine codon partitioned by CpG context. CI confidence Interval

ISSN: 1471-2164