Table 1.

Genotype Frequency of P300L Variant in the Respective Human Cohorts

Cohort	D15K	LGP Probands	LGP Controls	HIMS	ESP-EA	ESP-AA	ExAC
Heterozygotes	619/15 663	9/459	25/1897	112/3862	140/4158	18/2185	1629/57 207
Percentage	3.95	1.96	1.38	2.9	3.36	0.82	2.84
Homozygotes	4 (11)	0	0	1 (3)	2	0	20 (24)

P300L is a minor frequency allele (<5%). Population frequency of P300L variant within the indicated cohorts include the following: NCBI dbSNP, National Center for Biotechnology Information Database of Single Nucleotide Polymorphisms; D15K, Danish general population; LGP, Longevity Genes Project protein centenarians and controls; ESP-EA and ESP-AA, Exome Sequencing Project European-American and African-American cohorts, respectively; ExAC, Exome Aggregation Consortium. Note that homozygotes were found, albeit at reduced numbers compared with the expected frequency from the Hardy-Weinberg equation (in parentheses).