A map of human microRNA variation uncovers unexpectedly high levels of variability

Table 2 New variants found in the newly sequenced Spanish population (AND) arranged by chromosome location

Location	SNV	Pre-mir/mature	Region	Number of individuals	Population frequency (%)	Number of heterozygous	Validated
Chr1:236016354	C/G	hsa-mir-1537	5' mir (mix)	1	0.0868	1	Yes
Chr 3:10436198	G/A	hsa-mir-885/hsa-miR-885-3p	3' seed miR	1	0.0868	1	Yes
Chr 3:75679944	C/T	hsa-mir-1324	5' mir (mix)	2	0.1736	2	NC^a
Chr 4:8007067	G/A	hsa-mir-95	5' mir (mix)	1	0.0868	1	Yes
Chr 9:97847780	C/T	hsa-mir-27b	Loop	1	0.0868	1	Yes
Chr 12:49048256	G/A	hsa-mir-1291	3' mir (mix)	1	0.0868	1	Yes
Chr 14:23887249	C/G	hsa-mir-208b	5' mir (mix)	1	0.0868	1	ND^b
Chr 14:101347358	C/T	hsa-mir-431	5' mir	1	0.0868	1	Yes
Chr 14:101506800	G/C	hsa-mir-376b	5' mir (mix)	1	0.0868	1	Yes
Chr 14:101513665	A/T	hsa-mir-539	5' mir	1	0.0868	1	Yes
Chr 14:101531692	T/C	hsa-mir-409/hsa-miR-409-3p	3' rom miR	1	0.0868	1	Yes

Location, the location (chromosome:position, according to the human genome build GRCh37, hg19); SNV, the change observed (reference allele/alternative allele); Pre-mir/mature, the identifier of the pre-mir and the mature miRNA affected by the SNV; Region, the region in which the SNV maps within the miRNA structure (Figure 3, bottom), with several cases where regions cannot be defined with precision due to a lack of a detailed annotation (3' mir (mix) = loop + seed miR 3' + rest of miR 3' + 3' pre-mir; 5' mir (mix) = loop + seed miR 5' + rest of miR 5' + 5' pre-mir; we also use the abbreviations 5' rom miR = rest of miR 5' and 3' rom miR = rest of miR 3'); Number of individuals, the number of individuals supporting the SNV; Population frequency (%), the alternative allele frequency in the studied population; Number of heterozygous, the number of times the SNV occurred heterozygously; Number of homozygous, the number of times that the alternative allele occurred homozygously. ^aNC, non-conclusive results after using two independent pairs of primers; a double band makes a precise determination of the SNV impossible. ^bND, not determined because no more DNA was available.

ISSN: 1756-994X