General Structure Information
| PDB ID | 3hm8 |
| HGNC Gene Label(s) | HK3 |
| Structure Name | crystal structure of the c-terminal hexokinase domain of human hk3 |
| Resolution | 2.8Å |
| Reference | AUTH L.NEDYALKOVA,Y.TONG,W.RABEH,W.TEMPEL,R.LANDRY,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,A.BOCHKAREV,AUTH 3 H.PARKTITL CRYSTAL STRUCTURE OF THE C-TERMINAL HEXOKINASE DOMAIN OFTITL 2 HUMAN HK3REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 436 |
| Number Of SNVs | 160 |
| Number Of Permutations | 26740 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.016 |
| p-value | 0.9 |
COSMIC
| Number Of Residues | 436 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1984 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.238 |
| p-value | 0.414 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 160 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 34.0 |
| K Statistic | -0.221 |
| p-value | 0.847 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:176314613 | rs529613291 | R>Q | C:480 | (-1.34, -29.99, 30.38) |
| 5:176314610 | rs61741552 | R>H | C:481 | (2.33, -30.26, 29.29) |
| 5:176314611 | rs143707218 | R>C | C:481 | (2.33, -30.26, 29.29) |
| 5:176314595 | T>N | C:486 | (1.86, -25.95, 22.04) | |
| 5:176314587 | P>S | C:489 | (4.84, -19.64, 21.44) | |
| 5:176314580 | R>Q | C:491 | (1.29, -17.91, 26.53) | |
| 5:176314581 | COSM1436200 COSM1436199 |
R>W | C:491 | (1.29, -17.91, 26.53) |
| 5:176314572 | H>N | C:494 | (8.24, -6.22, 28.48) | |
| 5:176314560 | rs142608480 | A>T | C:498 | (9.70, -4.49, 22.92) |
| 5:176314556 | COSM32497 | A>V | C:499 | (11.18, -5.97, 20.05) |
| 5:176314542 | M>L | C:504 | (7.03, -1.42, 13.72) | |
| 5:176314539 | R>W | C:505 | (10.03, 3.58, 16.11) | |
| 5:176314533 | A>T | C:507 | (10.27, 0.01, 9.62) | |
| 5:176314518 | L>F | C:512 | (9.52, 7.50, 6.03) | |
| 5:176314505 | A>G | C:516 | (13.94, -1.38, 2.85) | |
| 5:176314497 | rs554872384 | L>F | C:519 | (6.13, -0.85, 6.82) |
| 5:176314494 | rs542919039 COSM3919736 COSM3919737 |
R>C | C:520 | (4.99, 1.16, 2.71) |
| 5:176314484 | rs140304551 | P>R | C:523 | (1.73, 8.65, 1.00) |
| 5:176314476 | COSM1578808 COSM1578807 |
V>I | C:526 | (-4.54, 13.65, 4.55) |
| 5:176314473 | R>W | C:527 | (-1.20, 17.94, 3.31) | |
| 5:176314467 | T>P | C:529 | (-7.28, 16.73, 11.25) | |
| 5:176314458 | G>S | C:532 | (-13.61, 22.57, 11.11) | |
| 5:176314330 | D>Y | C:537 | (-24.14, 17.02, 0.19) | |
| 5:176314326 | rs377322720 | F>S | C:538 | (-20.01, 14.70, 0.26) |
| 5:176314320 | rs143577771 | A>V | C:540 | (-19.94, 6.93, -0.16) |
| 5:176314314 | D>G | C:542 | (-17.01, 1.15, 2.59) | |
| 5:176314309 | G>R | C:544 | (-13.05, -4.35, 2.22) | |
| 5:176314302 | rs550548336 COSM1066110 COSM1595249 |
T>M | C:546 | (-17.32, -7.33, 6.49) |
| 5:176314300 | N>D | C:547 | (-20.02, -4.83, 5.29) | |
| 5:176314293 | rs150676692 | R>H | C:549 | (-22.03, 0.15, 3.94) |
| 5:176314294 | rs373277952 | R>C | C:549 | (-22.03, 0.15, 3.94) |
| 5:176314278 | R>H | C:554 | (-25.06, 15.38, 4.72) | |
| 5:176314279 | rs369880429 | R>C | C:554 | (-25.06, 15.38, 4.72) |
| 5:176314269 | T>I | C:557 | (-23.41, 21.70, 11.32) | |
| 5:176314264 | V>M | C:559 | (-23.13, 14.65, 10.13) | |
| 5:176314261 | rs564954864 | Q>K | C:560 | (-27.84, 13.37, 7.78) |
| 5:176314258 | I>L | C:561 | (-25.04, 8.96, 7.50) | |
| 5:176314249 | rs528270181 | E>K | C:564 | (-28.10, -0.09, 1.08) |
| 5:176314206 | rs61749651 | Q>R | C:578 | (-15.17, -5.92, -14.63) |
| 5:176314122 | rs369692731 | L>F | C:580 | (-15.71, -5.92, -8.69) |
| 5:176314110 | I>V | C:584 | (-19.32, -1.28, -7.37) | |
| 5:176314104 | D>N | C:586 | (-24.99, -2.05, -10.60) | |
| 5:176314101 | C>S | C:587 | (-25.00, -0.69, -6.14) | |
| 5:176314095 | V>M | C:589 | (-27.76, 3.08, -9.10) | |
| 5:176314078 | rs200906801 | K>N | C:594 | (-33.40, 2.98, -3.17) |
| 5:176314073 | G>A | C:596 | (-33.17, 10.62, -5.45) | |
| 5:176314065 | rs140696619 | G>R | C:599 | (-28.65, 12.90, -11.66) |
| 5:176314060 | rs61749650 | Q>H | C:600 | (-27.10, 14.10, -9.18) |
| 5:176314058 | S>N | C:601 | (-23.08, 14.10, -9.99) | |
| 5:176314046 | rs368066219 | G>D | C:605 | (-16.03, 8.72, -1.08) |
| 5:176314034 | S>F | C:609 | (-9.62, -1.30, 2.25) | |
| 5:176314017 | rs569489384 | L>V | C:615 | (0.74, 11.13, -6.20) |
| 5:176314010 | rs373709615 | L>P | C:617 | (-6.93, 13.25, -2.07) |
| 5:176311132 | I>V | C:621 | (-2.32, 3.23, -8.11) | |
| 5:176311129 | L>F | C:622 | (-4.33, -1.48, -6.39) | |
| 5:176311122 | rs370502221 | N>S | C:624 | (-1.18, -5.33, -3.62) |
| 5:176311096 | D>H | C:633 | (-7.15, -7.16, -14.91) | |
| 5:176311092 | rs377598932 | C>F | C:634 | (-7.11, -4.37, -10.78) |
| 5:176311075 | V>M | C:640 | (-10.66, 6.59, -10.03) | |
| 5:176311071 | S>T | C:641 | (-10.04, 4.65, -13.61) | |
| 5:176311072 | S>G | C:641 | (-10.04, 4.65, -13.61) | |
| 5:176311063 | rs142919032 | R>W | C:644 | (-13.47, 7.20, -14.88) |
| 5:176311059 | E>G | C:645 | (-13.12, 1.84, -17.05) | |
| 5:176311047 | R>H | C:649 | (-18.28, -0.93, -18.35) | |
| 5:176311048 | rs376092049 | R>C | C:649 | (-18.28, -0.93, -18.35) |
| 5:176310869 | A>G | C:652 | (-23.86, 5.89, -15.25) | |
| 5:176310849 | rs138002696 | A>T | C:659 | (-11.79, 10.34, -3.05) |
| 5:176310845 | COSM3975425 COSM3975426 |
I>T | C:660 | (-9.03, 7.26, -2.82) |
| 5:176310839 | rs145354682 | N>S | C:662 | (-7.36, 3.36, 3.88) |
| 5:176310833 | T>M | C:664 | (-7.11, 3.69, 8.32) | |
| 5:176310830 | V>A | C:665 | (-7.59, 7.57, 6.76) | |
| 5:176310828 | G>R | C:666 | (-11.41, 7.32, 7.72) | |
| 5:176310821 | M>R | C:668 | (-8.20, 9.53, 11.46) | |
| 5:176310817 | M>I | C:669 | (-10.80, 12.08, 9.39) | |
| 5:176310806 | rs200657973 COSM1581027 COSM1581026 |
Y>C | C:673 | (-16.96, 16.05, 13.18) |
| 5:176310807 | Y>H | C:673 | (-16.96, 16.05, 13.18) | |
| 5:176310799 | D>E | C:675 | (-10.93, 14.23, 19.11) | |
| 5:176310800 | D>G | C:675 | (-10.93, 14.23, 19.11) | |
| 5:176310797 | P>L | C:676 | (-8.96, 17.48, 18.21) | |
| 5:176310798 | rs199684264 COSM1581025 COSM1581024 |
P>S | C:676 | (-8.96, 17.48, 18.21) |
| 5:176310791 | C>Y | C:678 | (-7.51, 12.08, 16.37) | |
| 5:176310789 | E>K | C:679 | (-3.07, 12.69, 15.21) | |
| 5:176310774 | V>I | C:684 | (-8.70, -4.72, 14.26) | |
| 5:176310771 | G>R | C:685 | (-10.67, -6.96, 11.49) | |
| 5:176309123 | rs139947848 | G>S | C:687 | (-7.96, -6.63, 8.98) |
| 5:176309105 | rs188423746 | M>L | C:693 | (-0.65, 12.77, 11.24) |
| 5:176309092 | rs145014783 | R>Q | C:697 | (10.07, 17.14, 9.40) |
| 5:176309093 | rs147409752 | R>W | C:697 | (10.07, 17.14, 9.40) |
| 5:176309086 | V>A | C:699 | (7.71, 12.08, 4.06) | |
| 5:176309083 | A>V | C:700 | (11.10, 11.59, 1.45) | |
| 5:176309071 | G>E | C:704 | (8.31, 19.26, 1.69) | |
| 5:176309072 | rs372156267 | G>R | C:704 | (8.31, 19.26, 1.69) |
| 5:176309060 | rs532202824 | R>C | C:708 | (1.37, 17.52, 10.73) |
| 5:176309055 | M>I | C:709 | (0.96, 13.76, 5.22) | |
| 5:176309044 | COSM1436194 COSM1436193 |
M>R | C:713 | (1.88, 1.99, 8.51) |
| 5:176309045 | M>V | C:713 | (1.88, 1.99, 8.51) | |
| 5:176309033 | COSM1066104 COSM1595252 |
A>T | C:717 | (3.06, -6.42, 5.61) |
| 5:176309027 | G>R | C:719 | (7.45, -9.22, 7.88) | |
| 5:176309020 | D>G | C:721 | (11.01, -8.83, 5.49) | |
| 5:176309021 | COSM3614418 COSM3614419 |
D>N | C:721 | (11.01, -8.83, 5.49) |
| 5:176309017 | rs139364608 | G>D | C:722 | (11.30, -12.08, 7.63) |
| 5:176309018 | G>C | C:722 | (11.30, -12.08, 7.63) | |
| 5:176309004 | rs367917003 | M>I | C:726 | (10.83, -14.93, 15.75) |
| 5:176309000 | S>C | C:728 | (6.41, -17.42, 13.22) | |
| 5:176308994 | COSM1209761 COSM1209762 |
R>C | C:730 | (3.71, -24.36, 13.31) |
| 5:176308990 | rs370694476 | F>S | C:731 | (0.39, -23.60, 14.60) |
| 5:176308988 | D>Y | C:732 | (1.43, -18.63, 12.08) | |
| 5:176308984 | rs78805667 | A>G | C:733 | (2.77, -21.28, 8.51) |
| 5:176308976 | D>N | C:736 | (0.78, -17.99, 4.94) | |
| 5:176308971 | Q>H | C:737 | (0.32, -21.53, 2.94) | |
| 5:176308970 | A>S | C:738 | (-3.40, -21.84, 3.08) | |
| 5:176308960 | rs200304310 | N>T | C:741 | (-1.93, -13.90, 0.53) |
| 5:176308955 | rs369520286 | G>S | C:743 | (3.80, -14.20, 2.36) |
| 5:176308945 | rs141851478 | R>K | C:746 | (4.54, -12.93, 6.61) |
| 5:176308838 | M>V | C:750 | (0.05, -12.86, 13.69) | |
| 5:176308831 | rs201033511 | S>N | C:752 | (-6.97, -10.54, 11.79) |
| 5:176308829 | rs200997168 | G>S | C:753 | (-10.30, -12.24, 11.87) |
| 5:176308823 | Y>N | C:755 | (-6.12, -14.37, 8.34) | |
| 5:176308820 | L>M | C:756 | (-7.09, -15.25, 14.74) | |
| 5:176308812 | E>D | C:758 | (-7.88, -21.00, 10.42) | |
| 5:176308810 | I>S | C:759 | (-4.15, -19.52, 14.31) | |
| 5:176308808 | COSM1567772 COSM1567771 |
V>I | C:760 | (-7.36, -22.04, 16.69) |
| 5:176308805 | rs190052913 | R>C | C:761 | (-8.46, -25.24, 11.74) |
| 5:176308796 | L>F | C:764 | (-7.40, -27.62, 17.78) | |
| 5:176308789 | H>R | C:766 | (-0.30, -30.43, 16.86) | |
| 5:176308751 | I>L | C:779 | (-12.60, -34.46, 13.53) | |
| 5:176308744 | rs566539907 | R>H | C:781 | (-16.71, -29.30, 10.76) |
| 5:176308745 | rs556634863 | R>C | C:781 | (-16.71, -29.30, 10.76) |
| 5:176308737 | rs61755710 | Q>H | C:783 | (-10.79, -29.79, 8.15) |
| 5:176308726 | I>N | C:787 | (-15.09, -23.40, 11.58) | |
| 5:176308713 | K>N | C:791 | (-18.54, -14.05, 16.27) | |
| 5:176308712 | F>L | C:792 | (-16.59, -18.81, 17.99) | |
| 5:176308695 | rs147646246 | E>D | C:797 | (-12.89, -15.50, 24.84) |
| 5:176308696 | rs369242166 | E>G | C:797 | (-12.89, -15.50, 24.84) |
| 5:176308697 | rs186159698 | E>K | C:797 | (-12.89, -15.50, 24.84) |
| 5:176308525 | rs373706090 | A>D | C:802 | (-20.29, -21.41, 31.81) |
| 5:176308519 | rs201695375 COSM1436190 COSM1436189 |
R>Q | C:804 | (-21.94, -25.51, 29.64) |
| 5:176308520 | R>W | C:804 | (-21.94, -25.51, 29.64) | |
| 5:176308498 | E>G | C:811 | (-21.65, -28.30, 19.78) | |
| 5:176308495 | COSM1581021 COSM1581020 |
D>V | C:812 | (-23.98, -24.91, 17.93) |
| 5:176308492 | L>P | C:813 | (-20.16, -26.00, 15.55) | |
| 5:176308474 | S>L | C:819 | (-15.48, -30.42, 29.96) | |
| 5:176308472 | D>H | C:820 | (-11.41, -31.55, 30.22) | |
| 5:176308465 | rs550174396 | A>D | C:822 | (-13.72, -27.06, 26.62) |
| 5:176308458 | M>I | C:824 | (-8.37, -26.71, 25.91) | |
| 5:176308423 | A>V | C:836 | (-3.27, -10.29, 18.88) | |
| 5:176308420 | A>V | C:837 | (-3.64, -7.76, 21.30) | |
| 5:176308421 | COSM1285382 COSM1285381 |
A>S | C:837 | (-3.64, -7.76, 21.30) |
| 5:176308412 | rs373687842 | C>R | C:840 | (-1.76, -4.32, 18.10) |
| 5:176308405 | rs145283059 | A>V | C:842 | (3.26, -2.91, 19.99) |
| 5:176308402 | G>D | C:843 | (2.25, -0.94, 17.56) | |
| 5:176308391 | COSM3853910 COSM3853911 |
V>M | C:847 | (2.68, 5.00, 16.37) |
| 5:176308388 | rs201720639 | V>M | C:848 | (2.32, 6.64, 20.13) |
| 5:176308376 | COSM449366 COSM1486619 |
R>W | C:852 | (6.94, 11.07, 22.55) |
| 5:176308366 | R>Q | C:855 | (4.86, 16.04, 17.37) | |
| 5:176308367 | rs139040755 | R>W | C:855 | (4.86, 16.04, 17.37) |
| 5:176308358 | rs371086300 | E>K | C:858 | (9.11, 15.36, 27.92) |
| 5:176308354 | E>G | C:859 | (3.19, 13.87, 28.16) | |
| 5:176308348 | A>V | C:861 | (-1.99, 13.55, 24.08) | |
| 5:176308337 | rs151132413 | G>R | C:865 | (-9.28, 5.66, 15.69) |
| 5:176308331 | COSM3853908 COSM591590 COSM1143797 COSM3853909 |
D>Y | C:867 | (-13.44, 0.20, 13.32) |
| 5:176308324 | T>M | C:869 | (-15.65, -6.65, 14.05) | |
| 5:176308315 | K>R | C:872 | (-16.12, -4.04, 18.63) | |
| 5:176308308 | rs200923960 | H>Q | C:874 | (-12.58, -10.24, 21.82) |
| 5:176308310 | H>Y | C:874 | (-12.58, -10.24, 21.82) | |
| 5:176308306 | P>L | C:875 | (-14.14, -10.06, 25.07) | |
| 5:176308303 | rs145827614 | R>H | C:876 | (-10.27, -8.94, 26.10) |
| 5:176308209 | S>R | C:879 | (-8.49, -4.12, 27.18) | |
| 5:176308201 | rs200385786 COSM3381206 COSM3381207 |
A>V | C:882 | (-4.54, -0.53, 26.34) |
| 5:176308193 | V>L | C:885 | (-0.13, 1.23, 25.05) | |
| 5:176308189 | rs146374391 | R>Q | C:886 | (-1.62, 1.35, 29.79) |
| 5:176308190 | rs192416700 | R>W | C:886 | (-1.62, 1.35, 29.79) |
| 5:176308177 | rs142158922 | P>H | C:890 | (4.57, 5.09, 29.25) |
| 5:176308175 | rs200044768 | R>C | C:891 | (4.83, 8.93, 28.10) |
| 5:176308169 | rs533079512 | V>M | C:893 | (-2.02, 9.77, 27.38) |
| 5:176308148 | rs546596860 | E>K | C:900 | (-20.04, 5.01, 15.31) |
| 5:176308142 | rs140114849 | G>R | C:902 | (-17.43, 4.94, 9.98) |
| 5:176308136 | rs146153216 | G>S | C:904 | (-17.61, 7.70, 5.46) |
| 5:176308126 | A>E | C:907 | (-14.39, 10.27, 3.42) | |
| 5:176308118 | COSM3853904 COSM3853905 |
V>F | C:910 | (-11.23, 13.94, 2.69) |
| 5:176308099 | R>H | C:916 | (-11.26, 22.76, -2.58) | |
| 5:176308093 | rs138173448 | A>V | C:918 | (-10.40, 21.92, -7.54) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:176314614 | COSM32300 | R>W | C:480 | (-1.34, -29.99, 30.38) |
| 5:176314581 | COSM1436200 | R>W | C:491 | (1.29, -17.91, 26.53) |
| 5:176314302 | COSM1066110 | T>M | C:546 | (-17.32, -7.33, 6.49) |
| 5:176314276 | COSM1143800 | V>M | C:555 | (-21.54, 17.86, 5.88) |
| 5:176311062 | COSM2154749 | R>Q | C:644 | (-13.47, 7.20, -14.88) |
| 5:176309021 | COSM3614419 | D>N | C:721 | (11.01, -8.83, 5.49) |
| 5:176308772 | COSM3429303 | V>I | C:772 | (-4.24, -33.76, 23.93) |
| 5:176308519 | COSM1436190 | R>Q | C:804 | (-21.94, -25.51, 29.64) |