Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

BMC Medical Genetics

Table 3 Known rare and common pathogenic variants for TMAU observed in this study

Gene	Variants (hg19)	MAF	Amino acid change in HGVS format	Subject ID^a	Ref
FMO3	rs72549325 chr1:g.171076936G > A/T NM_001002294.2:c.442G > A/T	4.118e-05/ 8.236e-06^b	NP_001002294.1:p.Gly148Arg/ NP_001002294.1:p.Gly148Ter	99^†	[40]
FMO3	rs2266782 chr1:g.171076966G > A NM_001002294.2:c.472G > A	0.383^b	NP_001002294.1:p.Glu158Lys	64^†, 98^†, 113^†, 114^†, 122^†	[37, 50]
FMO3	rs1736557 chr1:g.171080080G > A NM_001002294.2:c.769G > A	0.080^b	NP_001002294.1:p.Val257Met	122^†	[37, 51]
FMO3	rs2266780 chr1:g.171083242A > G NM_001002294.2:c.923A > G	0.153^b	NP_001002294.1:p.Glu308Gly	98^†	[50]
PYROXD2	rs7072216^c chr10:g.100156853 T > C NM_032709.2:c.625 + 249A > G	0.4012^d	Intronic	52^†, 56^†, 35^§, 64^§, 113^§	[21]

^aZygosity of samples: ^†heterozygous; ^§homozygous
^bFrequency from ExAC database (http://exac.broadinstitute.org/)
^cThis intronic variant is not seen in the exome data. We selected it based on literature search and genotyped it in the ten study samples
^dFrequency from the 1000 Genomes Project (http://www.1000genomes.org/)

ISSN: 1471-2350