Table 3. Previously unreported CKM missense variants detected in clinical trial participants located in Bangkok, Thailand, Cape Town, South Africa, and New York City, USA.
| Geographic Location | Variant (ref.>alt.) | cDNA Position | Coding DNA Sequence Position | Protein Position | Amino Acid Substitution (ref.>alt.) | SIFT Prediction | PolyPhen Prediction |
|---|---|---|---|---|---|---|---|
| Bangkok | C>T | 303 | 128 | 43 | R>Q | tolerated(0.07) | benign(0.288) |
| Bangkok | T>C | 693 | 518 | 173 | Y>C | deleterious(0) | probably_damaging(0.991) |
| Bangkok | T>A | 696 | 521 | 174 | Y>F | tolerated(0.18) | possibly_damaging(0.717) |
| Bangkok | T> C | 713 | 538 | 180 | T>A | deleterious(0) | benign(0.086) |
| Bangkok | C> A | 977 | 802 | 268 | G>C | deleterious(0) | possibly_damaging(0.822) |
| Bangkok | T> G | 1262 | 1087 | 363 | M>L | tolerated(0.35) | benign(0.08) |
| Cape Town | G> C | 451 | 276 | 92 | I>M | deleterious(0) | probably_damaging(0.951) |
| Cape Town | G> A | 569 | 394 | 132 | R>C | deleterious(0) | probably_damaging(0.999) |
| Cape Town | C> T | 623 | 448 | 150 | E>K | deleterious(0.01) | possibly_damaging(0.586) |
| Cape Town | C> T | 638 | 463 | 155 | E>K | deleterious(0) | benign(0.177) |
| Cape Town | T> C | 968 | 793 | 265 | K>E | deleterious(0.04) | possibly_damaging(0.568) |
| Cape Town | A> G | 990 | 815 | 272 | M>T | deleterious(0.05) | possibly_damaging(0.503) |
| Cape Town | C> A | 991 | 816 | 272 | M>I | tolerated(0.05) | benign(0.142) |
| Cape Town | T> A | 995 | 820 | 274 | N>Y | deleterious(0) | probably_damaging(0.91) |
| Cape Town | C> A | 1013 | 838 | 280 | V>L | tolerated(0.18) | benign(0.159) |
| Cape Town | T> A | 1032 | 857 | 286 | N>I | deleterious(0) | probably_damaging(1) |
| Cape Town | C> G | 1064 | 889 | 297 | V>L | tolerated(0.21) | benign(0.299) |
| Cape Town | G> T | 1124 | 949 | 317 | L>M | deleterious(0.02) | probably_damaging(0.998) |
| New York City | C> A | 392 | 217 | 73 | G>C | deleterious(0) | probably_damaging(0.997) |
| New York City | T> A | 435 | 260 | 87 | E>V | deleterious(0.02) | benign(0.402) |
| New York City | T> A | 482 | 307 | 103 | T>S | tolerated(0.62) | benign(0.001) |
| New York City | T> C | 720 | 545 | 182 | K>R | tolerated(0.11) | benign(0.017) |
| New York City | A> T | 806 | 631 | 211 | W>R | deleterious(0) | probably_damaging(0.994) |
| New York City | T> G | 837 | 662 | 221 | D>A | tolerated(0.08) | benign(0.148) |
| New York City | A> G | 924 | 749 | 250 | F>S | deleterious(0) | probably_damaging(1) |
| New York City | C> T | 1172 | 997 | 333 | V>I | tolerated(0.3) | benign(0.085) |
Twenty-six previously unreported genetic missense variants were detected in 24 individuals out of 505 individuals sequenced for the coding DNA reference sequence NM_001824.4. All individuals that had detectable missense variants were heterozygous for those variants. One participant from Bangkok had two missense variants and one participant from Cape Town had two missense variants. Across the three geographic locations evaluated for genetic variants for this kinase, no CKM variants were found in more than one geographic region.