General Structure Information
| PDB ID | 2dwp |
| HGNC Gene Label(s) | PFKFB3 |
| Structure Name | a pseudo substrate complex of 6-phosphofructo-2-kinase of pfkfb |
| Resolution | 2.7Å |
| Reference | AUTH S.G.KIM,M.CAVALIER,M.R.EL-MAGHRABI,Y.H.LEETITL A DIRECT SUBSTRATE-SUBSTRATE INTERACTION FOUND INTITL 2 THE KINASE DOMAIN OF THE BIFUNCTIONAL ENZYME,TITL 3 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-TITL 4 BISPHOSPHATASEREF J.MOL.BIOL. V. 370 14 2007REFN ISSN 0022-2836PMID 17499765DOI 10.1016/J.JMB.2007.03.038 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 431 |
| Number Of SNVs | 112 |
| Number Of Permutations | 20269 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.196 |
| p-value | 0.04 |
COSMIC
| Number Of Residues | 431 |
| Number Of SNVs | 3 |
| Number Of Permutations | 67 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.333 |
| p-value | 0.837 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:6245236 | L>V | A:4 | (-25.92, 94.96, 8.69) | |
| 10:6245272 | V>L | A:16 | (-24.80, 96.14, 2.94) | |
| 10:6245275 | D>N | A:17 | (-22.45, 95.51, -1.50) | |
| 10:6255612 | P>S | A:34 | (-6.34, 72.54, 1.90) | |
| 10:6255618 | rs200349885 COSM4014996 COSM4014997 COSM4014998 |
V>I | A:36 | (-3.95, 65.53, 2.22) |
| 10:6255624 | rs142603218 | V>I | A:38 | (-1.95, 60.00, 4.29) |
| 10:6255642 | A>T | A:44 | (-6.11, 44.26, 6.65) | |
| 10:6255645 | R>W | A:45 | (-3.68, 45.93, 8.84) | |
| 10:6255684 | rs567196228 | L>F | A:58 | (-15.60, 65.33, 8.33) |
| 10:6255697 | G>D | A:62 | (-19.39, 70.41, 7.05) | |
| 10:6255699 | rs375018306 | V>I | A:63 | (-15.95, 69.24, 6.54) |
| 10:6257192 | rs181651478 | V>I | A:70 | (-5.57, 53.86, -5.12) |
| 10:6257207 | R>W | A:75 | (-10.87, 47.53, -8.44) | |
| 10:6257223 | rs547569491 | Q>R | A:80 | (-11.21, 41.09, -13.59) |
| 10:6257226 | Y>C | A:81 | (-7.94, 40.21, -9.02) | |
| 10:6257228 | rs376208847 | S>G | A:82 | (-5.50, 38.52, -10.98) |
| 10:6257246 | R>C | A:88 | (5.30, 39.45, -7.97) | |
| 10:6257252 | D>N | A:90 | (8.92, 41.15, -9.24) | |
| 10:6257255 | N>H | A:91 | (5.10, 43.18, -11.47) | |
| 10:6257261 | rs149555675 | E>K | A:93 | (3.47, 46.00, -16.40) |
| 10:6257276 | rs201889586 COSM4015002 COSM4015003 COSM4015004 |
R>W | A:98 | (0.95, 49.64, -7.72) |
| 10:6257280 | K>R | A:99 | (3.77, 55.40, -9.99) | |
| 10:6258099 | L>S | A:103 | (0.30, 59.83, -9.92) | |
| 10:6258102 | COSM326125 COSM326126 |
A>G | A:104 | (-4.39, 59.82, -10.80) |
| 10:6258104 | A>S | A:105 | (-5.50, 60.25, -7.47) | |
| 10:6258119 | K>Q | A:110 | (-4.67, 69.54, -8.09) | |
| 10:6258120 | K>R | A:110 | (-4.67, 69.54, -8.09) | |
| 10:6258688 | T>I | A:128 | (4.10, 51.04, 3.08) | |
| 10:6258708 | M>V | A:135 | (5.26, 61.24, -4.03) | |
| 10:6258727 | K>R | A:141 | (5.17, 71.55, 0.11) | |
| 10:6259099 | rs144243977 | A>V | A:147 | (-0.03, 66.70, 5.78) |
| 10:6259114 | S>L | A:152 | (-3.01, 51.03, 11.07) | |
| 10:6259116 | V>M | A:153 | (-0.19, 49.16, 13.56) | |
| 10:6259117 | V>A | A:153 | (-0.19, 49.16, 13.56) | |
| 10:6259122 | D>N | A:155 | (1.02, 42.64, 13.95) | |
| 10:6259125 | D>N | A:156 | (-3.68, 40.11, 15.96) | |
| 10:6259153 | M>T | A:165 | (-13.36, 36.69, 6.40) | |
| 10:6261541 | rs373530404 | I>V | A:169 | (-13.64, 36.76, 1.03) |
| 10:6261562 | D>N | A:176 | (-14.93, 34.22, -9.75) | |
| 10:6261569 | N>I | A:178 | (-13.39, 29.90, -2.61) | |
| 10:6261572 | S>L | A:179 | (-13.20, 31.33, 1.30) | |
| 10:6261583 | M>V | A:183 | (-7.91, 33.67, 3.24) | |
| 10:6261587 | D>G | A:184 | (-4.10, 31.90, 0.25) | |
| 10:6261605 | I>N | A:190 | (-0.30, 40.86, 3.27) | |
| 10:6261618 | E>D | A:194 | (5.30, 42.13, 5.00) | |
| 10:6261619 | A>T | A:195 | (9.66, 44.00, 2.98) | |
| 10:6261631 | P>T | A:199 | (6.94, 51.94, 9.82) | |
| 10:6261637 | D>N | A:201 | (10.02, 57.06, 13.15) | |
| 10:6261643 | rs199606482 | D>N | A:203 | (10.65, 59.38, 17.82) |
| 10:6262622 | D>N | A:208 | (9.04, 67.17, 11.28) | |
| 10:6262629 | COSM1702018 COSM1702019 |
S>L | A:210 | (1.54, 65.64, 11.27) |
| 10:6262637 | K>Q | A:213 | (0.85, 55.06, 15.10) | |
| 10:6262644 | rs369033520 | I>T | A:215 | (-1.66, 50.88, 18.08) |
| 10:6262649 | rs373816623 | V>M | A:217 | (-8.10, 48.35, 17.02) |
| 10:6262655 | R>W | A:219 | (-6.15, 48.21, 22.57) | |
| 10:6262656 | rs140784797 | R>Q | A:219 | (-6.15, 48.21, 22.57) |
| 10:6262667 | rs577158958 | V>L | A:223 | (-0.23, 62.00, 18.53) |
| 10:6262674 | COSM539445 COSM539446 |
R>Q | A:225 | (4.06, 68.21, 15.44) |
| 10:6262697 | R>C | A:233 | (-13.13, 67.90, 15.60) | |
| 10:6262698 | COSM3790867 COSM3790868 |
R>H | A:233 | (-13.13, 67.90, 15.60) |
| 10:6262700 | I>V | A:234 | (-9.54, 63.93, 12.75) | |
| 10:6262703 | V>M | A:235 | (-7.40, 63.03, 16.66) | |
| 10:6262707 | Y>C | A:236 | (-12.45, 63.54, 20.43) | |
| 10:6262727 | rs369124719 | V>M | A:243 | (-14.95, 47.57, 16.16) |
| 10:6262733 | P>A | A:245 | (-20.20, 44.05, 18.61) | |
| 10:6262734 | rs373844823 | P>L | A:245 | (-20.20, 44.05, 18.61) |
| 10:6262737 | R>H | A:246 | (-22.72, 49.13, 18.78) | |
| 10:6262760 | G>S | A:254 | (-45.05, 59.06, 21.25) | |
| 10:6262771 | E>D | A:257 | (-52.07, 65.77, 22.63) | |
| 10:6262773 | H>R | A:258 | (-49.02, 69.44, 19.94) | |
| 10:6262778 | L>V | A:260 | (-53.52, 64.43, 17.43) | |
| 10:6262787 | rs140258391 | R>C | A:263 | (-50.76, 72.70, 16.67) |
| 10:6262788 | rs377041246 | R>H | A:263 | (-50.76, 72.70, 16.67) |
| 10:6262793 | rs34832528 | G>R | A:265 | (-43.62, 71.63, 18.76) |
| 10:6262809 | L>P | A:270 | (-47.88, 60.48, 25.42) | |
| 10:6262815 | S>N | A:272 | (-53.87, 56.90, 23.96) | |
| 10:6262818 | rs200580141 | R>Q | A:273 | (-52.89, 56.38, 19.08) |
| 10:6262825 | K>N | A:275 | (-49.71, 56.29, 26.94) | |
| 10:6263350 | rs145547756 | S>G | A:279 | (-46.05, 49.33, 26.07) |
| 10:6263368 | V>M | A:285 | (-36.40, 46.27, 24.73) | |
| 10:6263395 | rs372640050 | R>C | A:294 | (-26.63, 52.88, 28.56) |
| 10:6263398 | V>M | A:295 | (-32.08, 55.01, 27.58) | |
| 10:6263419 | S>C | A:302 | (-42.85, 62.94, 24.84) | |
| 10:6263432 | T>M | A:306 | (-41.73, 56.79, 26.08) | |
| 10:6263437 | E>K | A:308 | (-40.68, 56.30, 32.73) | |
| 10:6263441 | rs569471270 | A>V | A:309 | (-42.39, 52.39, 29.95) |
| 10:6263446 | rs140957456 | R>W | A:311 | (-39.89, 48.82, 33.14) |
| 10:6263447 | R>Q | A:311 | (-39.89, 48.82, 33.14) | |
| 10:6263470 | A>T | A:319 | (-29.54, 68.02, 22.21) | |
| 10:6263471 | A>V | A:319 | (-29.54, 68.02, 22.21) | |
| 10:6263482 | I>L | A:323 | (-36.21, 71.93, 15.39) | |
| 10:6263485 | rs199705255 | D>N | A:324 | (-36.68, 76.07, 17.90) |
| 10:6263489 | rs35117690 | A>V | A:325 | (-39.83, 76.88, 15.50) |
| 10:6263607 | rs371075114 | V>I | A:327 | (-42.20, 82.63, 15.87) |
| 10:6263620 | L>R | A:331 | (-48.20, 77.24, 14.96) | |
| 10:6263625 | Y>D | A:333 | (-46.91, 72.61, 9.08) | |
| 10:6263628 | E>K | A:334 | (-53.12, 76.42, 8.53) | |
| 10:6263646 | Y>N | A:340 | (-45.60, 83.64, 10.10) | |
| 10:6263647 | Y>C | A:340 | (-45.60, 83.64, 10.10) | |
| 10:6263658 | rs368231126 COSM919339 COSM919340 |
Y>N | A:344 | (-44.96, 77.21, 3.98) |
| 10:6263662 | rs141885543 | A>V | A:345 | (-41.58, 79.50, 1.14) |
| 10:6263667 | R>W | A:347 | (-38.93, 75.11, 6.10) | |
| 10:6263668 | R>Q | A:347 | (-38.93, 75.11, 6.10) | |
| 10:6263685 | Y>H | A:353 | (-28.59, 75.41, 4.45) | |
| 10:6263686 | Y>C | A:353 | (-28.59, 75.41, 4.45) | |
| 10:6263692 | R>H | A:355 | (-31.87, 79.89, 11.24) | |
| 10:6263703 | G>R | A:359 | (-34.56, 79.75, 15.42) | |
| 10:6264839 | R>C | A:368 | (-28.78, 70.71, 18.96) | |
| 10:6264848 | P>A | A:371 | (-22.18, 65.98, 20.98) | |
| 10:6264905 | COSM3665793 COSM1561273 COSM1561274 COSM3665794 |
V>I | A:390 | (-33.49, 64.99, 15.86) |
| 10:6264920 | L>F | A:395 | (-30.70, 58.25, 10.00) | |
| 10:6264936 | rs202182009 | D>V | A:400 | (-23.81, 58.96, 4.11) |
| 10:6264941 | rs201735991 | S>G | A:402 | (-27.43, 64.50, 1.87) |
| 10:6265929 | P>T | A:407 | (-34.59, 67.37, 5.30) | |
| 10:6265945 | P>H | A:412 | (-41.99, 57.03, 11.05) | |
| 10:6265953 | T>A | A:415 | (-40.96, 53.12, 13.84) | |
| 10:6265956 | rs143044080 | V>I | A:416 | (-37.68, 50.85, 15.87) |
| 10:6265969 | COSM4015013 COSM4015014 |
T>M | A:420 | (-26.45, 46.91, 12.65) |
| 10:6265977 | A>T | A:423 | (-18.67, 46.29, 6.84) | |
| 10:6266117 | R>C | A:427 | (-28.49, 45.66, 8.96) | |
| 10:6266118 | R>H | A:427 | (-28.49, 45.66, 8.96) | |
| 10:6266135 | L>V | A:433 | (-43.93, 48.54, 17.63) | |
| 10:6266154 | C>F | A:439 | (-48.56, 61.26, 9.47) | |
| 10:6266162 | rs144329353 | R>W | A:442 | (-45.09, 67.99, 5.33) |
| 10:6266163 | R>Q | A:442 | (-45.09, 67.99, 5.33) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:6255709 | COSM216922 | K>T | A:66 | (-13.77, 62.85, -2.16) |
| 10:6258137 | COSM4796170 | E>K | A:116 | (-14.12, 70.05, -6.98) |
| 10:6258742 | COSM3675819 | K>R | A:146 | (-2.38, 71.38, 5.72) |
| 10:6266130 | COSM1675034 | I>T | A:431 | (-39.10, 47.50, 13.78) |