Table 5. Previously unreported PKLR missense variants detected in clinical trial participants located in Thailand, South Africa, and the USA.
| Geographic Location | Variant (ref.>alt.) | cDNA Position | Coding DNA Sequence Position | Protein Position | Amino Acid Substitution (ref.>alt.) | SIFT Prediction | PolyPhen Prediction |
|---|---|---|---|---|---|---|---|
| Bangkok | G>A | 89 | 50 | 17 | S>F | deleterious(0) | benign(0) |
| Bangkok | A>T | 106 | 67 | 23 | L>I | tolerated(0.06) | benign(0.024) |
| Bangkok | C>T | 161 | 122 | 41 | R>Q | deleterious(0.01) | benign(0.175) |
| Bangkok | G>C | 302 | 263 | 88 | T>S | tolerated(0.16) | possibly_damaging(0.793) |
| Bangkok | G>C | 368 | 329 | 110 | A>G | deleterious(0) | possibly_damaging(0.656) |
| Bangkok | A>T | 1240 | 1201 | 401 | C>S | deleterious(0.02) | possibly_damaging(0.837) |
| Bangkok | A>G | 1334 | 1295 | 432 | V>A | deleterious(0) | benign(0.062) |
| Bangkok | T>C | 1652 | 1613 | 538 | E>G | tolerated(0.11) | benign(0.024) |
| Cape Town | C>T | 375 | 336 | 112 | M>I | deleterious(0.01) | probably_damaging(1) |
| Cape Town | C>A | 578 | 539 | 180 | G>V | deleterious(0) | probably_damaging(0.996) |
| Cape Town | G>T | 947 | 908 | 303 | P>Q | deleterious(0.05) | benign(0.13) |
| Cape Town | C>T | 1033 | 994 | 332 | G>S | deleterious(0.01) | probably_damaging(0.995) |
| Cape Town | A>G | 1040 | 1001 | 334 | M>T | deleterious(0.01) | probably_damaging(0.995) |
| Cape Town | A>T | 1091 | 1052 | 351 | L>Q | deleterious(0) | probably_damaging(0.992) |
| Cape Town | G>A | 1313 | 1274 | 425 | A>V | deleterious(0.01) | benign(0.111) |
| Cape Town | C>T | 1343 | 1304 | 435 | R>Q | tolerated(0.63) | benign(0.01) |
| Cape Town | T>A | 1465 | 1426 | 476 | T>S | tolerated(0.23) | benign(0.002) |
| Cape Town | A>G | 1576 | 1537 | 513 | F>L | tolerated(0.25) | possibly_damaging(0.624) |
| New York City | G>C | 197 | 158 | 53 | T>S | tolerated(0.47) | benign(0.008) |
| New York City | G>T | 368 | 329 | 110 | A>D | deleterious(0) | possibly_damaging(0.9) |
| New York City | A>G | 460 | 421 | 141 | F>L | tolerated(0.45) | benign(0.082) |
| New York City | G>A | 473 | 434 | 145 | P>L | tolerated(0.1) | possibly_damaging(0.653) |
| New York City | A>T | 524 | 485 | 162 | I>N | deleterious(0) | probably_damaging(0.999) |
| New York City | G>A | 530 | 491 | 164 | T>I | deleterious(0.01) | probably_damaging(1) |
| New York City | A>G | 580 | 541 | 181 | S>P | tolerated(0.26) | benign(0.315) |
| New York City | A>T | 866 | 827 | 276 | V>E | deleterious(0) | probably_damaging(0.986) |
| New York City | A>C | 1230 | 1191 | 397 | D>E | deleterious(0.01) | possibly_damaging(0.872) |
| New York City | C>T | 1234 | 1195 | 399 | A>T | tolerated(0.29) | probably_damaging(0.94) |
| New York City | G>A | 1448 | 1409 | 470 | A>V | deleterious(0.02) | probably_damaging(0.995) |
| New York City | A>G | 1520 | 1481 | 494 | I>T | deleterious(0) | probably_damaging(0.985) |
| New York City | A>G | 1583 | 1544 | 515 | L>S | deleterious(0.03) | probably_damaging(0.97) |
Thirty-one previously unreported genetic missense variants were detected in 26 individuals out of 505 individuals sequenced for the coding DNA reference sequence NP_000289.1.