From: Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing
Gene | Variants (hg19) | MAF | Amino acid change in HGVS format | Subject IDa | Ref |
---|---|---|---|---|---|
FMO3 | rs72549325 chr1:g.171076936G > A/T NM_001002294.2:c.442G > A/T | 4.118e-05/ 8.236e-06b | NP_001002294.1:p.Gly148Arg/ NP_001002294.1:p.Gly148Ter | 99†| [40] |
FMO3 | rs2266782 chr1:g.171076966G > A NM_001002294.2:c.472G > A | 0.383b | NP_001002294.1:p.Glu158Lys | 64†, 98†, 113†, 114†, 122†| |
FMO3 | rs1736557 chr1:g.171080080G > A NM_001002294.2:c.769G > A | 0.080b | NP_001002294.1:p.Val257Met | 122†| |
FMO3 | rs2266780 chr1:g.171083242A > G NM_001002294.2:c.923A > G | 0.153b | NP_001002294.1:p.Glu308Gly | 98†| [50] |
PYROXD2 | rs7072216c chr10:g.100156853 T > C NM_032709.2:c.625 + 249A > G | 0.4012d | Intronic | 52†, 56†, 35§, 64§, 113§ | [21] |