Table 3.
EIF4G1 coding variants present in NHLBI Exome Sequencing Project (NM_182917.4). EA = European American population. AA = African American population.
| Nucleotide change | Protein change | SNP accession number | Frequency (EA) | Frequency (AA) | Exon |
|---|---|---|---|---|---|
| c.C71T | P24L | 0.000142 | 0 | 2 | |
| c.C167G | A56G | 0.000142 | 0 | 3 | |
| c.C211T | P71S | rs113810947 | 0.000285 | 0 | 3 |
| c.282C>G | I94M | 0 | 0.000268 | 3 | |
| c.451C>G | V151L | 0.000143 | 0 | 5 | |
| c.481A>G | A161T | rs13319149 | 0.996722 | 0.999465 | 5 |
| C.602G>A | R201H | rs34838305 | 0.000427 | 0 | 6 |
| C.608C>T | A203V | 0.000142 | 0 | 6 | |
| C.704G>A | R235Q | rs144543953 | 0.000142 | 0.000268 | 8 |
| C.731G>A | R244Q | rs147855566 | 0.000142 | 0 | 8 |
| C.779C>T | S260L | 0.000142 | 0 | 8 | |
| c.821C>T | P274L | rs139626338 | 0 | 0.000268 | 8 |
| c.870G>A | M290I | rs144947145 | 0 | 0.001338 | 8 |
| c.913C>T | R305C | rs116508885 | 0 | 0.00321 | 8 |
| c.914G>A | R205H | rs151151194 | 0.000142 | 0.000268 | 8 |
| c.926A>G | E309G | 0.000142 | 0 | 8 | |
| c.932A>G | Y311C | rs16858632 | 0.000427 | 0.059658 | 8 |
| c.1001A>C | P334Q | 0.000285 | 0 | 8 | |
| c.1013C>T | S338F | rs139021806 | 0 | 0.000268 | 8 |
| c.1036C>A | Q346K | 0 | 0.000268 | 8 | |
| c.1054G>T | A352S | 0.000142 | 0 | 8 | |
| c.1063A>G | T355A | 0 | 0.000268 | 8 | |
| c.1064C>T | T355I | 0 | 0.000268 | 8 | |
| c.1142C>G | A381G | rs142095694 | 0.000142 | 0 | 8 |
| c.1256G>T | S419I | rs138207269 | 0 | 0.000535 | 8 |
| c.1294A>G | M432V | rs2178403 | 0.759544 | 0.943553 | 8 |
| c.1298C>T | A433V | rs145998921 | 0.000142 | 0 | 8 |
| c.1309A>G | I437V | rs144222028 | 0 | 0.000268 | 8 |
| c.1316C>A | S439Y | rs148709174 | 0.000142 | 0 | 8 |
| c.1331C>T | T444M | rs143014570 | 0 | 0.000268 | 8 |
| c.1352C>A | P451Q | rs147419996 | 0.000142 | 0 | 8 |
| c.1429G>A | E477K | rs145228718 | 0 | 0.000268 | 8 |
| c.1456C>T | P486S | rs112545306 | 0.00057 | 0.000803 | 8 |
| c.1505C>T | A502V | rs111290936 | 0.000285 | 0 | 8 |
| c.1610C>T | A537V | 0 | 0.000268 | 10 | |
| c.1648G>C | A550P | rs111924994 | 0.001994 | 0.000535 | 10 |
| c.1679G>A | G560D | rs149685875 | 0.000142 | 0 | 10 |
| c.1696C>T | R566C | rs145521479 | 0.000142 | 0.000268 | 10 |
| c.1700C>A | P567H | rs140212150 | 0 | 0.000268 | 10 |
| c.1754A>C | E585A | 0 | 0.000268 | 10 | |
| c.1801T>C | W601R | rs145247318 | 0 | 0.000268 | 11 |
| c.1831C>T | R611C | 0 | 0.000268 | 11 | |
| c.1980A>G | I660M | 0.000142 | 0 | 12 | |
| c.1982A>G | N661S | rs145780534 | 0.000142 | 0 | 12 |
| c.2096G>C | G699A | 0.000142 | 0 | 13 | |
| c.2114C>G | S705C | rs141054452 | 0.000142 | 0 | 13 |
| c.2152G>C | A718P | rs111396765 | 0.001567 | 0.000268 | 13 |
| c.2225C>T | T742M | rs147678593 | 0 | 0.004013 | 13 |
| c.2276A>G | Q759R | 0.000142 | 0 | 14 | |
| c.2278G>C | D760H | rs142947014 | 0.000142 | 0 | 14 |
| c.2386A>G | K796E | 0 | 0.000268 | 14 | |
| c.2419A>G | I807V | rs62287499 | 0.000427 | 0 | 14 |
| c.2488A>T | T830S | rs111500185 | 0.000285 | 0 | 15 |
| c.2612A>C | E871A | 0.000142 | 0 | 15 | |
| c.2671A>G | I891V | 0 | 0.000268 | 16 | |
| c.2882A>G | N961S | rs191888688 | 0 | 0.000268 | 17 |
| c.3187C>T | R1063C | 0.000142 | 0 | 19 | |
| c.3221C>T | T1074I | rs146433145 | 0.000142 | 0 | 19 |
| c.3343C>T | R1115C | rs150054202 | 0 | 0.000268 | 21 |
| c.3428A>G | Q1143R | rs145414660 | 0 | 0.000268 | 21 |
| c.3482G>A | R1161H | rs139135683 | 0.000427 | 0 | 22 |
| c.3511C>T | R1171C | rs141684202 | 0 | 0.000268 | 22 |
| c.3529C>T | R1177C | 0 | 0.000268 | 22 | |
| c.3580C>T | R1194W | 0.000142 | 0 | 22 | |
| c.3584G>A | S1195N | 0.000142 | 0 | 22 | |
| c.3592C>T | R1198W | rs113388242 | 0 | 0.000268 | 22 |
| c.3617G>A | R1206H | rs112176450 | 0.000285 | 0 | 22 |
| c.3649C>T | R1207C | 0.000143 | 0 | 22 | |
| c.3650G>A | R1217H | rs34086109 | 0 | 0.010433 | 22 |
| c.3652G>A | G1217R | rs138270117 | 0 | 0.000268 | 22 |
| c.3686C>T | P1299L | 0 | 0.000268 | 23 | |
| c.3688C>G | P1230A | rs35629949 | 0.005842 | 0.001606 | 23 |
| c.3701T>C | L1234P | rs2230570 | 0.021937 | 0.080257 | 23 |
| c.3743A>G | K1248R | 0.000142 | 0 | 23 | |
| c.3773A>G | N1258S | rs73053766 | 0 | 0.001873 | 23 |
| c.3935C>T | S1312F | 0 | 0.000268 | 24 | |
| c.3937A>G | T1313A | rs144570332 | 0.000142 | 0.000803 | 24 |
| c.3988A>G | M1330V | rs112809828 | 0.000285 | 0 | 25 |
| c.4067T>C | M1356T | rs144059151 | 0.000855 | 0 | 25 |
| c.4068G>C | M1356I | rs145975905 | 0.000285 | 0 | 25 |
| c.4081A>G | R1361G | rs139793721 | 0 | 0.000268 | 25 |
| c.4106C>T | P1369L | rs142064428 | 0 | 0.000803 | 26 |
| c.4184C>T | T1395M | rs112441721 | 0 | 0.000268 | 27 |
| c.4201G>A | G1401R | rs149821418 | 0.000142 | 0.000803 | 27 |
| c.4229A>C | E1410A | rs141776790 | 0 | 0.000268 | 27 |
| c.4259A>G | E1420G | 0 | 0.000268 | 27 | |
| c.4292C>T | S1431L | 0.000142 | 0.000268 | 28 | |
| c.4300C>T | P1434S | rs147696097 | 0.000142 | 0 | 28 |
| c.4379G>A | R1460Q | 0.000142 | 0 | 28 | |
| c.4399G>A | A1467T | rs148270724 | 0.000142 | 0 | 29 |
| c.4433C>T | T1478M | rs141379472 | 0.000142 | 0 | 29 |
| c.4454C>T | T1485M | 0.000142 | 0 | 29 | |
| c.4486A>T | T1496S | 0 | 0.000268 | 29 | |
| c.4712C>T | A1571V | rs144462594 | 0.000142 | 0 | 31 |
| c.4772G>A | R1591H | 0.000142 | 0 | 31 |