General Structure Information
| PDB ID | 4fpa |
| HGNC Gene Label(s) | HK1 |
| Structure Name | crystal structure of recombinant human hexokinase type i mutant d413n glucose 6-phosphate |
| Resolution | 2.48Å |
| Reference | AUTH L.SHEN,Y.GAO,R.B.HONZATKOTITL DETERMINATION OF SITE AFFINITY CONSTANTS FOR PRODUCTTITL 2 INHIBITION OF WILD-TYPE AND MUTANT FORMS OF RECOMBINANTTITL 3 HUMAN HEXOKINASE TYPE IREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 899 |
| Number Of SNVs | 159 |
| Number Of Permutations | 84769 |
| Optimal Distance Threshold | 34.0 |
| K Statistic | 0.331 |
| p-value | 0.134 |
COSMIC
| Number Of Residues | 899 |
| Number Of SNVs | 12 |
| Number Of Permutations | 17446 |
| Optimal Distance Threshold | 29.0 |
| K Statistic | 0.136 |
| p-value | 0.45 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 159 |
| Number Of COSMIC SNVs | 9 |
| Optimal Distance Threshold | 29.0 |
| K Statistic | -0.17 |
| p-value | 0.524 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:71048503 | G>R | A:17 | (-70.64, -41.70, 67.26) | |
| 10:71055432 | rs375127199 | S>N | A:20 | (-66.76, -41.74, 62.66) |
| 10:71103608 | R>Q | A:30 | (-61.84, -35.58, 56.06) | |
| 10:71103616 | rs375425117 COSM539658 COSM1139484 COSM1648731 |
D>N | A:33 | (-54.91, -38.50, 47.95) |
| 10:71103643 | R>C | A:42 | (-55.87, -26.49, 40.71) | |
| 10:71103666 | N>K | A:49 | (-49.48, -18.79, 34.34) | |
| 10:71103670 | L>F | A:51 | (-42.71, -18.09, 35.18) | |
| 10:71103677 | R>Q | A:53 | (-42.69, -12.68, 28.81) | |
| 10:71103688 | P>A | A:57 | (-49.57, -9.87, 34.59) | |
| 10:71103703 | rs372315642 | K>E | A:62 | (-46.79, -12.98, 41.41) |
| 10:71103743 | S>C | A:75 | (-16.43, -19.20, 48.82) | |
| 10:71119665 | F>C | A:80 | (-21.33, -10.78, 56.56) | |
| 10:71119706 | R>W | A:94 | (-21.59, -10.56, 64.12) | |
| 10:71119722 | rs201072105 | H>R | A:99 | (-13.60, -21.63, 55.16) |
| 10:71119731 | N>T | A:102 | (-9.65, -22.87, 59.29) | |
| 10:71119742 | H>Y | A:106 | (-19.46, -17.45, 65.03) | |
| 10:71119745 | M>L | A:107 | (-23.82, -17.48, 64.19) | |
| 10:71119748 | E>K | A:108 | (-23.74, -12.78, 67.63) | |
| 10:71119754 | E>K | A:110 | (-30.46, -9.66, 70.19) | |
| 10:71119761 | Y>F | A:112 | (-34.03, -6.17, 69.15) | |
| 10:71119767 | T>I | A:114 | (-42.11, -5.54, 67.82) | |
| 10:71119781 | V>M | A:119 | (-46.81, -3.83, 63.13) | |
| 10:71119787 | G>S | A:121 | (-48.30, 1.95, 61.62) | |
| 10:71119797 | S>N | A:124 | (-41.89, 6.02, 59.91) | |
| 10:71124563 | L>M | A:134 | (-28.98, -1.72, 63.59) | |
| 10:71124577 | M>I | A:138 | (-23.78, -1.96, 65.66) | |
| 10:71124589 | K>N | A:142 | (-18.40, -0.93, 70.17) | |
| 10:71124598 | D>E | A:145 | (-16.48, 2.34, 63.72) | |
| 10:71124608 | P>S | A:149 | (-21.87, -6.00, 55.39) | |
| 10:71124645 | S>C | A:161 | (-34.33, -5.36, 39.76) | |
| 10:71128296 | I>N | A:167 | (-40.70, -2.68, 45.58) | |
| 10:71128317 | R>Q | A:174 | (-49.49, -11.06, 62.80) | |
| 10:71128326 | A>V | A:177 | (-47.76, -0.25, 57.28) | |
| 10:71128344 | A>V | A:183 | (-41.97, 1.16, 48.47) | |
| 10:71128362 | L>H | A:189 | (-34.00, 1.04, 56.60) | |
| 10:71128367 | K>E | A:191 | (-35.28, 8.34, 55.42) | |
| 10:71128374 | I>N | A:193 | (-30.34, 4.98, 59.32) | |
| 10:71128377 | rs190318420 | K>R | A:194 | (-29.31, 10.14, 57.25) |
| 10:71128385 | rs138198944 | G>R | A:197 | (-26.50, 9.42, 62.59) |
| 10:71129008 | I>V | A:203 | (-28.49, -2.22, 53.02) | |
| 10:71129011 | COSM1505837 COSM1505838 |
V>I | A:204 | (-25.96, -5.36, 50.09) |
| 10:71129023 | N>H | A:208 | (-38.06, -14.37, 51.37) | |
| 10:71129026 | D>H | A:209 | (-38.25, -16.45, 54.75) | |
| 10:71129062 | D>Y | A:221 | (-27.51, -30.55, 51.46) | |
| 10:71129080 | G>S | A:227 | (-37.83, -23.36, 50.30) | |
| 10:71129089 | rs375278763 | I>V | A:230 | (-44.86, -24.08, 57.57) |
| 10:71129272 | C>F | A:256 | (-34.35, -18.32, 43.34) | |
| 10:71129278 | N>S | A:258 | (-40.63, -16.00, 45.95) | |
| 10:71129319 | D>H | A:272 | (-63.48, -25.93, 45.33) | |
| 10:71129340 | R>G | A:279 | (-65.67, -18.33, 52.76) | |
| 10:71136701 | M>T | A:296 | (-56.36, -22.88, 54.09) | |
| 10:71136712 | M>V | A:300 | (-51.95, -15.93, 61.90) | |
| 10:71136727 | L>V | A:305 | (-59.92, -21.87, 61.61) | |
| 10:71136754 | rs200379909 | A>T | A:314 | (-71.79, -24.66, 70.43) |
| 10:71136781 | COSM1638627 COSM1638629 COSM1638628 |
R>W | A:323 | (-72.03, -25.35, 78.30) |
| 10:71136791 | P>L | A:326 | (-67.85, -14.63, 76.51) | |
| 10:71136803 | T>N | A:330 | (-63.04, -13.53, 72.04) | |
| 10:71136814 | rs189866037 | F>L | A:334 | (-58.11, -21.83, 70.54) |
| 10:71136829 | rs138492927 | V>M | A:339 | (-53.64, -26.60, 68.28) |
| 10:71136838 | I>V | A:342 | (-54.74, -30.28, 72.29) | |
| 10:71139643 | K>Q | A:353 | (-60.01, -30.57, 80.74) | |
| 10:71139655 | T>A | A:357 | (-61.40, -24.82, 81.99) | |
| 10:71139658 | rs147132442 | R>C | A:358 | (-57.42, -21.89, 81.11) |
| 10:71139659 | COSM4015377 COSM4015379 COSM4015378 COSM4015380 |
R>H | A:358 | (-57.42, -21.89, 81.11) |
| 10:71139689 | C>S | A:368 | (-61.56, -32.88, 75.48) | |
| 10:71139691 | rs143502069 | V>I | A:369 | (-62.18, -36.18, 72.65) |
| 10:71139701 | rs576717469 | Q>R | A:372 | (-57.79, -34.07, 70.38) |
| 10:71139706 | V>I | A:374 | (-61.32, -30.28, 65.57) | |
| 10:71139715 | I>V | A:377 | (-59.58, -32.26, 60.89) | |
| 10:71139734 | A>V | A:383 | (-50.21, -30.46, 55.87) | |
| 10:71139742 | V>M | A:386 | (-47.99, -27.85, 51.99) | |
| 10:71139748 | rs559137069 | A>T | A:388 | (-49.91, -30.24, 47.22) |
| 10:71139749 | A>V | A:388 | (-49.91, -30.24, 47.22) | |
| 10:71139752 | T>I | A:389 | (-48.05, -27.07, 46.82) | |
| 10:71139755 | L>Q | A:390 | (-43.74, -29.17, 47.89) | |
| 10:71139760 | rs140290094 | A>T | A:392 | (-45.47, -29.17, 42.45) |
| 10:71139771 | N>K | A:395 | (-43.49, -32.58, 39.73) | |
| 10:71139772 | rs541193570 | R>C | A:396 | (-41.14, -27.03, 36.79) |
| 10:71139773 | R>H | A:396 | (-41.14, -27.03, 36.79) | |
| 10:71139779 | R>H | A:398 | (-39.64, -35.22, 37.72) | |
| 10:71139788 | K>R | A:401 | (-33.24, -32.23, 36.28) | |
| 10:71139806 | COSM919909 COSM1585047 COSM1585046 |
R>Q | A:407 | (-31.08, -37.16, 45.59) |
| 10:71139812 | T>M | A:409 | (-32.74, -31.20, 50.07) | |
| 10:71139841 | rs561056731 | T>A | A:419 | (-43.89, -26.38, 67.59) |
| 10:71139842 | T>M | A:419 | (-43.89, -26.38, 67.59) | |
| 10:71142250 | R>W | A:425 | (-46.30, -37.67, 61.73) | |
| 10:71142251 | R>Q | A:425 | (-46.30, -37.67, 61.73) | |
| 10:71142266 | rs562088389 | T>S | A:430 | (-48.91, -36.82, 52.34) |
| 10:71142274 | R>C | A:433 | (-49.17, -40.42, 49.94) | |
| 10:71142275 | R>H | A:433 | (-49.17, -40.42, 49.94) | |
| 10:71142279 | L>F | A:434 | (-48.68, -36.97, 46.43) | |
| 10:71142292 | D>Y | A:439 | (-35.70, -39.78, 46.82) | |
| 10:71142298 | rs148472311 | R>C | A:441 | (-32.26, -34.31, 53.71) |
| 10:71142343 | V>L | A:456 | (-26.73, -13.71, 50.07) | |
| 10:71142370 | E>K | A:465 | (-16.78, -3.60, 46.03) | |
| 10:71142379 | R>W | A:468 | (-16.79, 0.59, 44.56) | |
| 10:71142385 | rs139936974 | I>V | A:470 | (-17.13, -0.31, 37.20) |
| 10:71142400 | A>T | A:475 | (-17.15, 8.83, 36.64) | |
| 10:71142410 | rs144282713 | H>R | A:478 | (-20.53, 12.82, 34.56) |
| 10:71142416 | T>N | A:480 | (-21.04, 18.76, 35.14) | |
| 10:71142451 | rs373626952 COSM195342 |
R>W | A:492 | (-15.47, 32.60, 22.83) |
| 10:71142476 | R>M | A:500 | (-7.28, 38.31, 18.73) | |
| 10:71142485 | T>M | A:503 | (-2.27, 35.05, 19.80) | |
| 10:71142490 | N>D | A:505 | (1.80, 32.07, 15.78) | |
| 10:71142499 | rs145718031 | V>M | A:508 | (-4.27, 25.33, 19.65) |
| 10:71142508 | M>V | A:511 | (-9.60, 30.10, 13.75) | |
| 10:71142509 | rs375297844 | M>T | A:511 | (-9.60, 30.10, 13.75) |
| 10:71142526 | rs568551856 | R>W | A:517 | (-15.01, 36.69, 1.36) |
| 10:71142538 | D>N | A:521 | (-25.57, 34.06, -4.92) | |
| 10:71144154 | COSM1254249 COSM1254250 COSM3439983 COSM3439984 |
R>C | A:546 | (-27.03, 24.40, -14.72) |
| 10:71144155 | rs548019222 | R>H | A:546 | (-27.03, 24.40, -14.72) |
| 10:71144173 | T>M | A:552 | (-30.76, 22.31, -11.45) | |
| 10:71144181 | M>V | A:555 | (-24.15, 15.02, -8.17) | |
| 10:71144199 | COSM919914 COSM1585039 COSM1585038 |
A>T | A:561 | (-9.44, 3.08, -3.21) |
| 10:71144209 | I>T | A:564 | (-2.58, 0.46, 3.29) | |
| 10:71144214 | I>V | A:566 | (-0.56, 5.00, -1.56) | |
| 10:71144224 | G>D | A:569 | (3.67, 7.55, 1.52) | |
| 10:71144562 | H>L | A:577 | (-4.09, 6.91, -6.55) | |
| 10:71144598 | M>T | A:589 | (-18.65, 10.67, -16.63) | |
| 10:71144612 | COSM320841 | P>S | A:594 | (-12.49, 19.12, -21.74) |
| 10:71144658 | T>M | A:609 | (-2.97, 32.86, 0.67) | |
| 10:71144661 | S>N | A:610 | (-5.84, 31.95, -1.74) | |
| 10:71144669 | COSM1505831 COSM1505832 |
A>T | A:613 | (-3.93, 28.17, -1.83) |
| 10:71144670 | rs554507867 | A>V | A:613 | (-3.93, 28.17, -1.83) |
| 10:71146082 | I>V | A:615 | (0.22, 25.32, 2.89) | |
| 10:71146088 | I>V | A:617 | (-0.54, 22.79, 8.88) | |
| 10:71146092 | T>M | A:618 | (-0.69, 18.63, 10.14) | |
| 10:71146120 | rs374806058 | D>E | A:627 | (7.51, 14.83, 1.07) |
| 10:71146124 | V>M | A:629 | (3.92, 18.71, 5.71) | |
| 10:71146167 | R>K | A:643 | (3.82, 13.93, -12.21) | |
| 10:71148968 | V>M | A:651 | (-7.23, 23.79, -9.49) | |
| 10:71148972 | V>G | A:652 | (-10.40, 27.06, -8.61) | |
| 10:71148975 | A>V | A:653 | (-10.32, 25.23, -5.00) | |
| 10:71149002 | M>T | A:662 | (-21.61, 25.71, 5.26) | |
| 10:71149003 | M>I | A:662 | (-21.61, 25.71, 5.26) | |
| 10:71151884 | rs398122379 CM030044 |
T>S | A:680 | (-12.96, 9.90, 10.93) |
| 10:71151890 | S>N | A:682 | (-14.14, 16.61, 14.63) | |
| 10:71151922 | V>M | A:693 | (-10.17, 37.71, 10.50) | |
| 10:71151962 | N>S | A:706 | (-11.21, 25.77, 9.31) | |
| 10:71151964 | M>V | A:707 | (-12.50, 26.27, 14.13) | |
| 10:71151971 | W>L | A:709 | (-13.96, 21.70, 17.03) | |
| 10:71151980 | F>C | A:712 | (-9.80, 22.37, 22.54) | |
| 10:71152001 | D>G | A:719 | (-4.99, 17.80, 30.70) | |
| 10:71152004 | rs369170269 | D>V | A:720 | (-9.20, 19.18, 33.82) |
| 10:71152009 | R>G | A:722 | (-6.99, 14.01, 28.45) | |
| 10:71154707 | Y>D | A:741 | (-12.47, 18.47, 21.32) | |
| 10:71154743 | I>V | A:753 | (-11.66, 5.14, 24.44) | |
| 10:71154749 | COSM1348795 COSM1348796 |
R>C | A:755 | (-9.20, -1.50, 22.74) |
| 10:71154764 | D>N | A:760 | (-8.49, -1.88, 33.03) | |
| 10:71158356 | R>Q | A:794 | (-37.16, -0.93, 23.02) | |
| 10:71158415 | D>N | A:814 | (-23.30, -10.23, 32.97) | |
| 10:71158458 | R>K | A:828 | (-24.01, 11.03, 27.36) | |
| 10:71158466 | A>T | A:831 | (-21.87, 14.59, 22.55) | |
| 10:71158472 | rs139917475 | L>V | A:833 | (-17.18, 17.33, 24.71) |
| 10:71158481 | rs143324021 | A>T | A:836 | (-19.57, 22.70, 24.05) |
| 10:71158485 | G>A | A:837 | (-18.44, 23.95, 21.12) | |
| 10:71158489 | M>I | A:838 | (-21.41, 24.12, 18.25) | |
| 10:71158494 | rs373871387 COSM1603664 COSM1603666 COSM1603665 COSM3665835 |
A>V | A:840 | (-19.33, 28.54, 21.61) |
| 10:71158511 | rs146727978 | R>C | A:846 | (-25.80, 35.70, 20.64) |
| 10:71158514 | E>K | A:847 | (-21.90, 37.80, 21.16) | |
| 10:71158524 | rs368303763 | G>E | A:850 | (-26.41, 41.62, 18.50) |
| 10:71158529 | rs142362924 | D>N | A:852 | (-31.11, 39.23, 22.63) |
| 10:71158530 | D>G | A:852 | (-31.11, 39.23, 22.63) | |
| 10:71158535 | L>V | A:854 | (-29.38, 33.17, 17.05) | |
| 10:71158539 | N>T | A:855 | (-32.65, 31.69, 14.95) | |
| 10:71160755 | R>T | A:873 | (-30.56, 12.25, 21.94) | |
| 10:71160770 | rs150481224 | T>M | A:878 | (-25.70, 19.99, 25.11) |
| 10:71160780 | E>D | A:881 | (-28.95, 22.50, 28.17) | |
| 10:71160851 | T>M | A:905 | (-15.52, 26.07, -7.73) | |
| 10:71160872 | R>H | A:912 | (-9.27, 32.25, -11.77) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:71119661 | COSM919900 | D>N | A:79 | (-18.38, -9.76, 59.30) |
| 10:71119674 | COSM1348787 | L>P | A:83 | (-31.87, -7.68, 59.50) |
| 10:71128331 | COSM4015367 | G>R | A:179 | (-46.26, 3.72, 53.42) |
| 10:71139727 | COSM4690535 | R>C | A:381 | (-57.13, -28.14, 55.78) |
| 10:71139760 | COSM1348791 | A>T | A:392 | (-45.47, -29.17, 42.45) |
| 10:71142254 | COSM4015391 | R>H | A:426 | (-50.01, -35.57, 60.52) |
| 10:71142350 | COSM291269 | A>V | A:458 | (-21.44, -12.19, 50.49) |
| 10:71142421 | COSM1585043 | D>N | A:482 | (-20.82, 23.87, 35.77) |
| 10:71144134 | COSM3358823 | R>H | A:539 | (-16.54, 10.05, -3.12) |
| 10:71144154 | COSM1254249 | R>C | A:546 | (-27.03, 24.40, -14.72) |
| 10:71154749 | COSM1348796 | R>C | A:755 | (-9.20, -1.50, 22.74) |
| 10:71158494 | COSM1603664 | A>E | A:840 | (-19.33, 28.54, 21.61) |
| 10:71158533 | COSM166596 | R>H | A:853 | (-32.85, 34.96, 22.21) |