Human MAT2A and MAT2B genetic polymorphisms
Polymorphisms in MAT2A and MAT2B exons and untranslated regions (UTRs) are numbered relative to the A (nucleotide 1) in the ATG translation initiation codon. In the case of MAT2B, we used the ATG in exon 1a. Negative numbers are assigned to positions 5′ to that location, and positive numbers are assigned to for positions 3′ to that location. Nucleotides located within introns are numbered based on their distance from the nearest splice junction, with distances from 3′-splice junctions assigned positive numbers and distances from 5′ splice junctions assigned negative numbers. Polymorphisms within exons are boxed. Amino acid changes in MAT2B are numbered for the 334 amino acid protein of MAT2B V2. Previously identified polymorphisms are indicated by rs number.
| MAT Gene | Polymorphism Location | Nucleotide Sequence Change | Amino Acid Sequence Change | Minor Allele Frequency | rs Number | ||
|---|---|---|---|---|---|---|---|
| AA | EA | HCA | |||||
| 2A | 5′FR (−2453) | del TTTTG | 0.000 | 0.005 | 0.000 | ||
| 2A | 5′FR (−2442) | T > C | 0.000 | 0.000 | 0.005 | ||
| 2A | 5′FR (−2405) | T > C | 0.229 | 0.547 | 0.641 | rs3755014 | |
| 2A | 5′FR (−2384) | G > C | 0.016 | 0.047 | 0.000 | rs72844458 | |
| 2A | 5′FR (−2370) | A > G | 0.229 | 0.547 | 0.641 | rs3755015 | |
| 2A | 5′FR (−2338) | T > C | 0.000 | 0.005 | 0.000 | ||
| 2A | 5′FR (−2237) | A > C | 0.010 | 0.005 | 0.000 | ||
| 2A | 5′FR (−2205) | C > T | 0.010 | 0.000 | 0.000 | ||
| 2A | 5′FR (−1976) | T > C | 0.000 | 0.016 | 0.000 | rs13020028 | |
| 2A | 5′FR (−1905) | A > T | 0.094 | 0.005 | 0.000 | rs72940556 | |
| 2A | 5′FR (−1883) | G > T | 0.000 | 0.000 | 0.005 | ||
| 2A | 5′FR (−1829) | G > A | 0.010 | 0.005 | 0.000 | ||
| 2A | 5′FR (−1749) | ins A | 0.000 | 0.005 | 0.000 | ||
| 2A | 5′FR (−1716) | G > A | 0.010 | 0.005 | 0.000 | ||
| 2A | 5′FR (−1606) | del CT | 0.005 | 0.000 | 0.000 | ||
| 2A | 5′FR (−1483) | T > C | 0.000 | 0.000 | 0.005 | ||
| 2A | 5′FR (−1451) | T > G | 0.219 | 0.547 | 0.641 | rs1446668 | |
| 2A | 5′FR (−1445) | A > T | 0.406 | 0.229 | 0.307 | rs1048740 | |
| 2A | 5′FR (−1443) | T > G | 0.406 | 0.229 | 0.307 | rs1048739 | |
| 2A | 5′FR (−1418) | G > A | 0.000 | 0.005 | 0.000 | ||
| 2A | 5′FR (−1344) | C > T | 0.016 | 0.000 | 0.000 | ||
| 2A | 5′FR (−1218) | G > A | 0.005 | 0.000 | 0.000 | ||
| 2A | 5′FR (−1206) | C > A | 0.063 | 0.198 | 0.005 | rs6729475 | |
| 2A | 5′FR (−1169) | G > T | 0.026 | 0.000 | 0.000 | ||
| 2A | 5′FR (−1157) | T > C | 0.000 | 0.000 | 0.005 | ||
| 2A | 5′FR (−1040) | ins C | 0.005 | 0.000 | 0.000 | ||
| 2A | 5′FR (−973) | C > G | 0.010 | 0.000 | 0.000 | ||
| 2A | 5′FR (−972) | C > T | 0.063 | 0.198 | 0.005 | rs4258795 | |
| 2A | 5′FR (−970 to −969) | ins C | 0.406 | 0.229 | 0.307 | ||
| 2A | 5′FR (−970) | T > G | 0.052 | 0.016 | 0.135 | rs1446667 | |
| 2A | 5′FR (−940) | G > A | 0.094 | 0.010 | 0.005 | rs72940558 | |
| 2A | 5′FR (−698) | G > A | 0.000 | 0.005 | 0.000 | ||
| 2A | 5′FR (−678) | C > G | 0.000 | 0.000 | 0.010 | rs17026411 | |
| 2A | 5′FR (−556) | C > T | 0.010 | 0.000 | 0.000 | rs60048404 | |
| 2A | 5′FR (−474) | G > T | 0.036 | 0.000 | 0.000 | rs60749033 | |
| 2A | 5′FR (−458) | C > T | 0.000 | 0.005 | 0.000 | ||
| 2A | 5′FR (−454) | G > A | 0.000 | 0.000 | 0.010 | rs17026416 | |
| 2A | 5′FR (−440) | G > A | 0.010 | 0.000 | 0.000 | ||
| 2A | 5′FR (−399) | A > T | 0.005 | 0.000 | 0.000 | ||
| 2A | 5′FR (−372) | T > G | 0.005 | 0.000 | 0.000 | ||
| 2A | 5′FR (−140) | G > T | 0.000 | 0.005 | 0.000 | ||
| 2A | 5′FR (−132) | G > A | 0.036 | 0.000 | 0.000 | rs6733827 | |
| 2A | 5′FR (−129) | C > G | 0.016 | 0.042 | 0.000 | rs2028106 | |
| 2A | 5′UTR (−120) | G > A | 0.000 | 0.005 | 0.000 | ||
| 2A | 5′UTR (−111) | G > A | 0.000 | 0.005 | 0.000 | ||
| 2A | 5′UTR (−97) | C > G | 0.000 | 0.005 | 0.000 | ||
| 2A | 5′UTR (−92) | A > G | 0.000 | 0.000 | 0.010 | rs17026419 | |
| 2A | 5′UTR (−16) | G > A | 0.000 | 0.000 | 0.005 | ||
| 2A | Exon 1 (32) | C > T | Ala/Val (11) | 0.005 | 0.000 | 0.000 | |
| 2A | Intron 1 (44) | C > T | 0.406 | 0.234 | 0.307 | rs2289972 | |
| 2A | Intron 1 (60) | C > T | 0.000 | 0.005 | 0.000 | ||
| 2A | Intron 1 (−46) | ins ATAC | 0.047 | 0.000 | 0.000 | ||
| 2A | Intron 2 (47) | A > G | 0.078 | 0.000 | 0.000 | rs58507836 | |
| 2A | Intron 3 (70) | G > A | 0.005 | 0.047 | 0.000 | ||
| 2A | Exon 4 (318) | G > T | 0.005 | 0.000 | 0.000 | rs72940560 | |
| 2A | Intron 4 (11) | G > C | 0.000 | 0.000 | 0.005 | ||
| 2A | Intron 4 (32) | T > C | 0.047 | 0.000 | 0.000 | rs62620249 | |
| 2A | Intron 4 (−19) | G > A | 0.010 | 0.000 | 0.000 | ||
| 2A | Exon 5 (501) | A > G | 0.005 | 0.000 | 0.000 | ||
| 2A | Intron 5 (−32) | A > G | 0.010 | 0.000 | 0.000 | rs1078005 | |
| 2A | Exon 6 (613) | A > G | Ile/Val (205) | 0.000 | 0.000 | 0.005 | |
| 2A | Intron 6 (−68) | T > C | 0.005 | 0.000 | 0.000 | ||
| 2A | Exon 7 (792) | G > C | 0.276 | 0.542 | 0.641 | rs1078004 | |
| 2A | Exon 7 (813) | T > C | 0.005 | 0.000 | 0.026 | ||
| 2A | Intron 7 (17) | del TA | 0.000 | 0.005 | 0.000 | ||
| 2A | Intron 7 (−62) | G > A | 0.000 | 0.005 | 0.000 | ||
| 2A | Intron 7 (−49) | A > G | 0.406 | 0.234 | 0.307 | rs2043675 | |
| 2A | Intron 7 (−19) | G > A | 0.010 | 0.000 | 0.000 | ||
| 2A | Intron 7 (−3) | ins T | 0.010 | 0.000 | 0.000 | ||
| 2A | Intron 8 (55) | G > A | 0.000 | 0.005 | 0.000 | ||
| 2A | Intron 8 (57) | ins GA | 0.000 | 0.005 | 0.000 | ||
| 2A | 3′UTR (1299) | G > A | 0.005 | 0.000 | 0.000 | ||
| 2A | 3′UTR (1464) | T > C | 0.005 | 0.000 | 0.000 | ||
| 2A | 3′UTR (1590) | T > C | 0.068 | 0.000 | 0.000 | rs6711750 | |
| 2B | 5′FR (−1043) | A > T | 0.104 | 0.281 | 0.724 | rs10462941 | |
| 2B | 5′FR (−924) | A > G | 0.000 | 0.005 | 0.000 | ||
| 2B | 5′FR (−544) | T > A | 0.000 | 0.000 | 0.005 | ||
| 2B | 5′FR (−467) | G > A | 0.047 | 0.000 | 0.000 | ||
| 2B | 5′FR (−362) | A > C | 0.125 | 0.000 | 0.000 | ||
| 2B | 5′UTR 1a (−133) | G > A | 0.000 | 0.000 | 0.005 | ||
| 2B | 5′UTR 1a (−114) | T > G | 0.000 | 0.026 | 0.000 | ||
| 2B | 5′UTR 1a (−3) | G > A | 0.005 | 0.000 | 0.000 | ||
| 2B | Exon 1 1a (28) | C > A | 0.042 | 0.000 | 0.000 | ||
| 2B | Intron 1a (8) | C > A | 0.000 | 0.000 | 0.005 | ||
| 2B | Intron 1a (981) | C > G | 0.000 | 0.005 | 0.000 | ||
| 2B | Intron 1b (990) | A > G | 0.112 | 0.000 | 0.000 | rs7726100 | |
| 2B | Intron 1b (1288) | C > T | 0.199 | 0.146 | 0.083 | rs7734424 | |
| 2B | Intron 1b (1337) | G > A | 0.112 | 0.000 | 0.000 | rs7709905 | |
| 2B | Intron 1b (1598) | del AAC | 0.091 | 0.000 | 0.000 | ||
| 2B | Intron 1b (1656) | G > A | 0.100 | 0.000 | 0.000 | rs7710409 | |
| 2B | Intron 1b (1717) | del TT | 0.006 | 0.000 | 0.000 | ||
| 2B | Intron 1b (1751) | C > T | 0.011 | 0.026 | 0.078 | rs28364754 | |
| 2B | Intron 1b (1760) | A > G | 0.100 | 0.000 | 0.000 | rs10062614 | |
| 2B | Intron 1b (1767) | del GAGATGTGTCCATTATGCTCTA | 0.109 | 0.000 | 0.000 | rs34602754 | |
| 2B | Intron 1b (1942) | del A | 0.000 | 0.000 | 0.005 | ||
| 2B | Intron 1b (1960) | C > G | 0.000 | 0.000 | 0.016 | ||
| 2B | Intron 1b (1978) | C > A | 0.005 | 0.000 | 0.000 | ||
| 2B | Intron 1b (2045) | G > T | 0.016 | 0.000 | 0.000 | ||
| 2B | Intron 1b (2049) | T > G | 0.108 | 0.000 | 0.000 | rs57122772 | |
| 2B | Intron 1b (2157) | T > C | 0.011 | 0.000 | 0.000 | ||
| 2B | Intron 1b (2376) | del G | 0.043 | 0.000 | 0.000 | ||
| 2B | Intron 1b (2392) | T > G | 0.183 | 0.146 | 0.083 | rs299299 | |
| 2B | Intron 1b (−49) | G > T | 0.010 | 0.000 | 0.000 | ||
| 2B | Intron 2 (57) | A > T | 0.016 | 0.031 | 0.078 | ||
| 2B | Intron 3 (64) | A > G | 0.036 | 0.000 | 0.000 | rs964945 | |
| 2B | Intron 3 (70) | G > A | 0.052 | 0.000 | 0.000 | rs7729611 | |
| 2B | Exon 4 (492) | A > G | 0.083 | 0.135 | 0.005 | rs17061795 | |
| 2B | Intron 4 (78) | T > C | 0.000 | 0.005 | 0.000 | ||
| 2B | Intron 5 (6) | del AAG | 0.016 | 0.000 | 0.000 | ||
| 2B | Intron 5 (51) | C > T | 0.000 | 0.010 | 0.000 | ||
| 2B | Intron 5 (−104) | C > T | 0.016 | 0.000 | 0.000 | ||
| 2B | Exon 6 (781) | C > T | Pro/Ser (261) | 0.000 | 0.000 | 0.005 | |
| 2B | Intron 6 (29) | A > G | 0.214 | 0.635 | 0.807 | rs7733775 | |
| 2B | Intron 6 (−205) | C > T | 0.016 | 0.000 | 0.000 | ||
| 2B | Intron 6 (−202) | G > T | 0.005 | 0.000 | 0.000 | ||
| 2B | Intron 6 (−153) | C > A | 0.016 | 0.000 | 0.000 | ||
| 2B | Exon 7 (820) | C > T | 0.000 | 0.000 | 0.005 | ||
| 2B | Exon 7 (872) | C > T | Thr/Ile (291) | 0.000 | 0.000 | 0.031 | |
rs, reference SNP IDs.