General Structure Information
| PDB ID | 4kxu |
| HGNC Gene Label(s) | TKT |
| Structure Name | human transketolase in covalent complex with donor ketose d-fructose- 6-phosphate |
| Resolution | 0.98Å |
| Reference | AUTH S.LUDTKE,P.NEUMANN,K.M.ERIXON,F.LEEPER,R.KLUGER,R.FICNER,AUTH 2 K.TITTMANNTITL SUB-ANGSTROM-RESOLUTION CRYSTALLOGRAPHY REVEALS PHYSICALTITL 2 DISTORTIONS THAT ENHANCE REACTIVITY OF A COVALENT ENZYMATICTITL 3 INTERMEDIATE.REF NAT CHEM V. 5 762 2013REFNPMID 23965678DOI 10.1038/NCHEM.1728 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 620 |
| Number Of SNVs | 161 |
| Number Of Permutations | 78727 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.016 |
| p-value | 0.828 |
COSMIC
| Number Of Residues | 620 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1095 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.2 |
| p-value | 0.173 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 161 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.122 |
| p-value | 0.144 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:53289934 | Q>E | A:9 | (2.89, -17.36, 36.49) | |
| 3:53289924 | L>P | A:12 | (3.59, -14.21, 33.23) | |
| 3:53289907 | rs78293061 | T>A | A:18 | (1.46, -4.04, 34.18) |
| 3:53289900 | N>S | A:20 | (-4.78, -4.54, 34.21) | |
| 3:53289886 | COSM4119283 | S>G | A:25 | (-4.24, 5.17, 33.52) |
| 3:53289875 | Q>H | A:28 | (-7.57, 7.19, 35.83) | |
| 3:53276254 | P>A | A:38 | (-10.02, 4.58, 26.22) | |
| 3:53276233 | COSM191443 | A>T | A:45 | (-2.06, -3.59, 27.34) |
| 3:53276224 | M>V | A:48 | (2.61, -1.53, 25.78) | |
| 3:53276206 | H>Y | A:54 | (10.34, -9.74, 29.14) | |
| 3:53276196 | R>H | A:57 | (16.26, -4.71, 26.93) | |
| 3:53276187 | S>F | A:60 | (14.29, 4.57, 32.47) | |
| 3:53276181 | D>V | A:62 | (18.06, 8.57, 28.81) | |
| 3:53276178 | P>L | A:63 | (14.35, 8.23, 27.08) | |
| 3:53276175 | rs141616327 | R>Q | A:64 | (15.47, 11.39, 23.21) |
| 3:53276176 | COSM1424638 | R>W | A:64 | (15.47, 11.39, 23.21) |
| 3:53276171 | N>K | A:65 | (20.24, 6.58, 25.15) | |
| 3:53276163 | rs140696022 | N>S | A:68 | (17.67, 3.01, 23.95) |
| 3:53276164 | N>D | A:68 | (17.67, 3.01, 23.95) | |
| 3:53276157 | R>H | A:70 | (15.09, 3.21, 18.97) | |
| 3:53276158 | rs138063237 | R>C | A:70 | (15.09, 3.21, 18.97) |
| 3:53275245 | I>T | A:81 | (-0.92, 3.11, 27.16) | |
| 3:53275243 | L>F | A:82 | (3.21, 6.02, 25.72) | |
| 3:53275236 | A>V | A:84 | (1.63, 4.84, 31.50) | |
| 3:53275209 | COSM3596306 | A>V | A:93 | (4.83, 11.24, 37.33) |
| 3:53275207 | COSM731869 | E>K | A:94 | (1.33, 8.11, 39.27) |
| 3:53275203 | A>V | A:95 | (0.20, 12.51, 38.81) | |
| 3:53275194 | L>P | A:98 | (-4.55, 12.63, 36.09) | |
| 3:53275155 | P>L | A:111 | (2.36, 11.48, 20.49) | |
| 3:53274363 | K>R | A:114 | (6.70, 18.26, 24.13) | |
| 3:53274342 | A>V | A:121 | (4.78, 12.49, 15.58) | |
| 3:53274337 | G>S | A:123 | (-1.54, 11.10, 14.48) | |
| 3:53274333 | S>F | A:124 | (-1.28, 10.81, 10.92) | |
| 3:53274316 | G>R | A:130 | (8.63, 4.46, 8.41) | |
| 3:53274297 | A>G | A:136 | (16.30, 0.25, 11.48) | |
| 3:53274289 | COSM4119281 | G>S | A:139 | (21.14, 0.49, 13.00) |
| 3:53274277 | D>Y | A:143 | (24.51, 3.36, 14.25) | |
| 3:53274274 | K>E | A:144 | (27.34, -0.59, 12.24) | |
| 3:53274268 | S>R | A:146 | (22.09, -3.69, 19.39) | |
| 3:53269185 | R>Q | A:148 | (15.34, -5.28, 17.96) | |
| 3:53269176 | C>S | A:151 | (5.82, -0.50, 15.42) | |
| 3:53269164 | D>V | A:155 | (-6.92, -2.73, 12.46) | |
| 3:53269155 | L>P | A:158 | (-3.13, -1.64, 8.22) | |
| 3:53269149 | E>A | A:160 | (-3.14, 4.50, 5.04) | |
| 3:53269132 | A>T | A:166 | (7.12, 0.14, 4.73) | |
| 3:53269129 | M>V | A:167 | (5.70, -3.77, 5.06) | |
| 3:53269120 | A>T | A:170 | (11.78, -3.85, 5.16) | |
| 3:53269110 | Y>C | A:173 | (16.69, -1.90, 1.86) | |
| 3:53269087 | rs17052920 | I>V | A:181 | (3.14, -4.85, 16.89) |
| 3:53269080 | D>V | A:183 | (-4.11, -3.83, 17.69) | |
| 3:53269074 | N>S | A:185 | (-9.16, -4.08, 17.53) | |
| 3:53269071 | R>H | A:186 | (-13.95, -6.32, 15.14) | |
| 3:53269072 | R>C | A:186 | (-13.95, -6.32, 15.14) | |
| 3:53269053 | P>L | A:192 | (-15.98, -2.63, 11.23) | |
| 3:53269054 | P>S | A:192 | (-15.98, -2.63, 11.23) | |
| 3:53269048 | P>A | A:194 | (-11.99, -4.11, 6.53) | |
| 3:53269028 | rs150551962 | D>E | A:200 | (-6.14, -15.70, 7.41) |
| 3:53269025 | I>M | A:201 | (-6.26, -12.28, 5.10) | |
| 3:53269014 | rs184742148 | R>Q | A:205 | (-2.95, -8.65, 2.98) |
| 3:53269015 | R>W | A:205 | (-2.95, -8.65, 2.98) | |
| 3:53269003 | F>V | A:209 | (4.25, -6.94, 0.91) | |
| 3:53269000 | G>S | A:210 | (8.38, -10.40, 3.49) | |
| 3:53267285 | H>R | A:212 | (8.16, -14.38, 10.29) | |
| 3:53267286 | H>Y | A:212 | (8.16, -14.38, 10.29) | |
| 3:53267274 | rs146610221 | V>M | A:216 | (-0.65, -13.72, 18.65) |
| 3:53267261 | S>T | A:220 | (-1.15, -13.75, 25.96) | |
| 3:53267259 | V>M | A:221 | (1.49, -12.19, 28.61) | |
| 3:53267247 | C>R | A:225 | (6.97, -13.06, 25.74) | |
| 3:53267240 | A>V | A:227 | (7.10, -13.77, 19.95) | |
| 3:53267225 | K>R | A:232 | (13.56, -12.30, 15.08) | |
| 3:53267216 | P>L | A:235 | (11.12, -8.34, 8.65) | |
| 3:53267211 | A>T | A:237 | (4.80, -9.65, 12.13) | |
| 3:53267198 | K>R | A:241 | (-7.33, -12.11, 18.03) | |
| 3:53267183 | rs139694567 | R>Q | A:246 | (-9.76, -7.50, 26.80) |
| 3:53267174 | rs149480115 | T>M | A:249 | (-17.48, -4.85, 31.32) |
| 3:53265550 | rs150711727 | E>D | A:255 | (-19.87, -0.98, 17.01) |
| 3:53265552 | E>Q | A:255 | (-19.87, -0.98, 17.01) | |
| 3:53265546 | W>R | A:257 | (-17.81, 3.22, 23.89) | |
| 3:53265524 | K>R | A:264 | (-16.98, 10.03, 37.64) | |
| 3:53265525 | K>Q | A:264 | (-16.98, 10.03, 37.64) | |
| 3:53265508 | Q>H | A:269 | (-17.75, -0.30, 37.86) | |
| 3:53265467 | rs138887336 | K>M | A:283 | (5.84, -1.27, 39.73) |
| 3:53265455 | T>I | A:287 | (16.26, -4.07, 31.16) | |
| 3:53265450 | P>S | A:289 | (20.94, -0.95, 27.01) | |
| 3:53265438 | A>T | A:293 | (26.29, 3.28, 19.79) | |
| 3:53265431 | S>L | A:295 | (30.00, 8.66, 18.51) | |
| 3:53265426 | D>N | A:297 | (29.53, 14.99, 14.10) | |
| 3:53265417 | rs143676012 | N>H | A:300 | (29.06, 23.14, 10.77) |
| 3:53265410 | R>L | A:302 | (33.10, 24.49, 6.10) | |
| 3:53265411 | R>C | A:302 | (33.10, 24.49, 6.10) | |
| 3:53265401 | S>N | A:305 | (35.69, 23.92, -1.49) | |
| 3:53265387 | K>E | A:310 | (34.01, 29.24, -14.22) | |
| 3:53264636 | I>T | A:315 | (24.62, 24.23, -14.76) | |
| 3:53264627 | R>H | A:318 | (18.50, 18.76, -13.10) | |
| 3:53264628 | R>C | A:318 | (18.50, 18.76, -13.10) | |
| 3:53264621 | A>V | A:320 | (24.25, 21.48, -8.99) | |
| 3:53264618 | Y>C | A:321 | (21.10, 18.52, -5.11) | |
| 3:53264616 | COSM1753314 | G>R | A:322 | (24.49, 16.79, -7.02) |
| 3:53264613 | Q>E | A:323 | (27.72, 18.63, -8.96) | |
| 3:53264598 | L>V | A:328 | (28.67, 18.14, 1.71) | |
| 3:53264584 | S>R | A:332 | (30.29, 14.53, 6.36) | |
| 3:53264586 | S>R | A:332 | (30.29, 14.53, 6.36) | |
| 3:53264579 | rs148678670 | R>H | A:334 | (26.46, 14.21, 10.22) |
| 3:53264580 | R>C | A:334 | (26.46, 14.21, 10.22) | |
| 3:53264567 | L>P | A:338 | (17.01, 9.67, 0.56) | |
| 3:53264561 | G>E | A:340 | (12.50, 7.98, -6.06) | |
| 3:53264532 | I>V | A:350 | (26.45, 12.48, -8.57) | |
| 3:53264527 | F>L | A:351 | (25.70, 10.94, -2.54) | |
| 3:53264513 | P>L | A:356 | (27.54, 4.11, -2.14) | |
| 3:53264510 | D>V | A:357 | (27.59, 2.76, 1.72) | |
| 3:53264507 | R>H | A:358 | (26.78, 8.14, 2.91) | |
| 3:53264508 | COSM3916431 | R>C | A:358 | (26.78, 8.14, 2.91) |
| 3:53264499 | E>K | A:361 | (16.41, 3.74, -4.00) | |
| 3:53264490 | I>V | A:364 | (7.93, 4.80, -7.20) | |
| 3:53263448 | S>N | A:371 | (9.16, 8.70, 6.79) | |
| 3:53263442 | rs139724440 | A>V | A:373 | (14.25, 10.71, 6.74) |
| 3:53263443 | A>T | A:373 | (14.25, 10.71, 6.74) | |
| 3:53263424 | R>H | A:379 | (17.46, 9.27, 19.12) | |
| 3:53263425 | R>C | A:379 | (17.46, 9.27, 19.12) | |
| 3:53263415 | T>M | A:382 | (21.53, 11.20, 10.05) | |
| 3:53263405 | F>L | A:385 | (20.05, 16.25, 1.88) | |
| 3:53263406 | F>S | A:385 | (20.05, 16.25, 1.88) | |
| 3:53263394 | F>S | A:389 | (10.39, 15.18, -10.26) | |
| 3:53263391 | A>V | A:390 | (8.49, 18.91, -6.55) | |
| 3:53263382 | F>C | A:393 | (8.37, 16.15, -2.30) | |
| 3:53263383 | rs138820989 | F>L | A:393 | (8.37, 16.15, -2.30) |
| 3:53263376 | R>Q | A:395 | (1.86, 10.94, -3.65) | |
| 3:53263377 | R>W | A:395 | (1.86, 10.94, -3.65) | |
| 3:53263358 | COSM3824375 | R>L | A:401 | (1.09, 17.78, 8.74) |
| 3:53263359 | R>C | A:401 | (1.09, 17.78, 8.74) | |
| 3:53263347 | I>V | A:405 | (4.25, 18.16, 14.27) | |
| 3:53263341 | E>K | A:407 | (10.33, 19.24, 16.65) | |
| 3:53263337 | S>N | A:408 | (12.41, 17.12, 11.75) | |
| 3:53263332 | I>V | A:410 | (14.21, 16.79, 6.93) | |
| 3:53263328 | N>S | A:411 | (17.22, 18.31, 4.16) | |
| 3:53263320 | COSM446862 | G>S | A:414 | (13.00, 19.72, -5.83) |
| 3:53263305 | rs150603999 | V>I | A:419 | (6.46, 25.67, -17.20) |
| 3:53263129 | A>G | A:430 | (6.06, 22.43, -9.85) | |
| 3:53263115 | A>T | A:435 | (2.67, 26.88, -1.06) | |
| 3:53263112 | rs141784567 | M>V | A:436 | (3.68, 22.58, 0.06) |
| 3:53263106 | COSM3916430 | R>W | A:438 | (5.30, 30.06, 2.11) |
| 3:53263099 | V>A | A:440 | (5.76, 24.00, 6.64) | |
| 3:53263064 | V>I | A:452 | (27.01, 29.23, -6.96) | |
| 3:53263034 | COSM4119279 | A>T | A:462 | (22.93, 21.15, 6.46) |
| 3:53262360 | R>W | A:471 | (11.69, 25.50, -6.82) | |
| 3:53262350 | R>H | A:474 | (14.85, 20.12, -17.51) | |
| 3:53262329 | COSM3392514 | Y>F | A:481 | (25.59, 34.76, -8.20) |
| 3:53262315 | D>N | A:486 | (28.25, 35.47, 1.31) | |
| 3:53262303 | G>R | A:490 | (17.57, 36.05, 4.20) | |
| 3:53262299 | Q>L | A:491 | (21.31, 37.67, 2.04) | |
| 3:53262294 | K>E | A:493 | (22.01, 38.83, -3.63) | |
| 3:53262165 | V>M | A:494 | (20.90, 43.22, -6.30) | |
| 3:53262135 | T>S | A:504 | (12.18, 46.16, -8.45) | |
| 3:53262132 | rs140330385 | V>I | A:505 | (12.23, 42.73, -11.30) |
| 3:53262106 | H>Q | A:513 | (18.30, 33.73, -15.64) | |
| 3:53262093 | A>T | A:518 | (14.30, 42.01, -20.05) | |
| 3:53262089 | A>V | A:519 | (16.90, 44.20, -19.25) | |
| 3:53262087 | COSM1692846 | E>K | A:520 | (19.80, 43.61, -22.24) |
| 3:53260883 | I>V | A:529 | (15.20, 46.81, -14.77) | |
| 3:53260877 | COSM1047269 | V>M | A:531 | (17.17, 42.42, -11.00) |
| 3:53260850 | L>V | A:540 | (11.45, 37.45, 2.11) | |
| 3:53260829 | rs148472107 | D>N | A:547 | (15.84, 49.42, 0.48) |
| 3:53260819 | R>H | A:550 | (11.82, 52.65, -0.23) | |
| 3:53260820 | COSM1047268 | R>C | A:550 | (11.82, 52.65, -0.23) |
| 3:53260817 | A>T | A:551 | (15.02, 53.14, -5.93) | |
| 3:53260784 | H>Y | A:562 | (4.11, 28.90, -8.25) | |
| 3:53260772 | G>S | A:566 | (1.85, 31.02, -2.23) | |
| 3:53259927 | S>T | A:573 | (2.49, 41.24, -1.15) | |
| 3:53259920 | A>V | A:575 | (5.77, 42.02, 3.30) | |
| 3:53259909 | E>K | A:579 | (5.14, 50.18, 3.40) | |
| 3:53259900 | I>V | A:582 | (5.22, 50.33, -2.08) | |
| 3:53259896 | T>N | A:583 | (3.53, 49.20, -5.94) | |
| 3:53259875 | N>S | A:590 | (-3.38, 31.36, -15.20) | |
| 3:53259872 | R>Q | A:591 | (-3.75, 28.39, -17.60) | |
| 3:53259854 | rs4687714 | K>R | A:597 | (9.84, 23.74, -27.02) |
| 3:53259851 | P>L | A:598 | (10.76, 25.25, -22.48) | |
| 3:53259852 | P>S | A:598 | (10.76, 25.25, -22.48) | |
| 3:53259848 | A>G | A:599 | (10.17, 28.94, -24.28) | |
| 3:53259849 | A>P | A:599 | (10.17, 28.94, -24.28) | |
| 3:53259835 | K>N | A:603 | (5.44, 33.23, -25.16) | |
| 3:53259798 | rs144283834 | V>M | A:616 | (8.04, 47.29, -16.92) |
| 3:53259793 | R>S | A:617 | (7.06, 48.27, -21.68) | |
| 3:53259791 | G>V | A:618 | (2.96, 49.78, -17.58) | |
| 3:53259788 | L>P | A:619 | (4.26, 49.68, -14.02) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:53264616 | COSM4653724 | G>R | A:322 | (24.49, 16.79, -7.02) |
| 3:53263358 | COSM3824375 | R>H | A:401 | (1.09, 17.78, 8.74) |
| 3:53263350 | COSM78653 | A>T | A:404 | (7.07, 19.69, 11.78) |
| 3:53262303 | COSM4584558 | G>R | A:490 | (17.57, 36.05, 4.20) |
| 3:53262297 | COSM1617903 | A>S | A:492 | (19.04, 38.89, -1.12) |
| 3:53262087 | COSM1692846 | E>K | A:520 | (19.80, 43.61, -22.24) |