General Structure Information
| PDB ID | 4fxf |
| HGNC Gene Label(s) | PKM |
| Structure Name | structure of m2 pyruvate kinase in complex with phenylalanine |
| Resolution | 2.55Å |
| Reference | AUTH H.P.MORGAN,F.J.OREILLY,M.A.WEAR,J.R.ONEILL,AUTH 2 L.A.FOTHERGILL-GILMORE,T.HUPP,M.D.WALKINSHAWTITL M2 PYRUVATE KINASE PROVIDES A MECHANISM FOR NUTRIENT SENSINGTITL 2 AND REGULATION OF CELL PROLIFERATION.REF PROC.NATL.ACAD.SCI.USA V. 110 5881 2013REFN ISSN 0027-8424PMID 23530218DOI 10.1073/PNAS.1217157110 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 506 |
| Number Of SNVs | 111 |
| Number Of Permutations | 60369 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | 0.319 |
| p-value | 0.073 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 15:72511344 | R>H | B:32 | (8.25, 14.20, 86.84) | |
| 15:72511345 | COSM4056671 COSM4056670 COSM4056672 |
R>C | B:32 | (8.25, 14.20, 86.84) |
| 15:72511342 | L>M | B:33 | (12.34, 13.95, 81.30) | |
| 15:72511300 | I>V | B:47 | (35.65, 14.32, 75.52) | |
| 15:72509829 | rs147939689 | R>Q | B:56 | (49.41, 16.59, 63.08) |
| 15:72509823 | rs201533100 | V>A | B:58 | (48.75, 24.15, 67.25) |
| 15:72509824 | rs569328016 | V>M | B:58 | (48.75, 24.15, 67.25) |
| 15:72509818 | T>S | B:60 | (42.88, 22.61, 65.52) | |
| 15:72509803 | I>V | B:65 | (41.50, 22.24, 74.61) | |
| 15:72509800 | K>E | B:66 | (38.59, 26.63, 73.51) | |
| 15:72509790 | M>K | B:69 | (40.29, 17.74, 74.11) | |
| 15:72509781 | A>V | B:72 | (44.75, 12.53, 73.23) | |
| 15:72509757 | T>I | B:80 | (55.29, 6.83, 61.89) | |
| 15:72509753 | H>Q | B:81 | (57.35, 5.82, 66.21) | |
| 15:72502818 | rs142392595 | Y>C | B:83 | (52.03, 11.59, 62.05) |
| 15:72502812 | COSM1374397 COSM1374398 |
A>V | B:85 | (55.95, 12.82, 68.05) |
| 15:72502792 | R>C | B:92 | (52.94, 17.57, 75.30) | |
| 15:72502788 | T>I | B:93 | (52.23, 23.39, 72.17) | |
| 15:72502776 | S>N | B:97 | (48.74, 27.85, 75.67) | |
| 15:72502777 | S>G | B:97 | (48.74, 27.85, 75.67) | |
| 15:72502761 | P>R | B:102 | (46.85, 28.28, 86.89) | |
| 15:72502758 | I>S | B:103 | (42.76, 29.43, 88.07) | |
| 15:72502756 | L>F | B:104 | (41.26, 29.13, 83.76) | |
| 15:72502744 | V>I | B:108 | (45.45, 17.46, 78.07) | |
| 15:72502723 | K>E | B:115 | (49.67, -2.00, 66.35) | |
| 15:72502200 | S>C | B:127 | (49.16, 7.85, 51.17) | |
| 15:72502190 | rs371750431 | A>V | B:130 | (44.60, 7.80, 50.15) |
| 15:72502182 | rs576481593 | E>Q | B:133 | (35.64, 4.51, 45.60) |
| 15:72502170 | G>R | B:137 | (31.60, -6.97, 41.57) | |
| 15:72502164 | T>A | B:139 | (38.03, -8.24, 40.95) | |
| 15:72502151 | T>M | B:143 | (49.16, -9.57, 47.88) | |
| 15:72502148 | COSM4056662 COSM4056661 COSM4056663 |
L>P | B:144 | (51.22, -12.00, 50.85) |
| 15:72502139 | A>V | B:147 | (56.05, -4.60, 46.68) | |
| 15:72502140 | rs146173648 | A>T | B:147 | (56.05, -4.60, 46.68) |
| 15:72502136 | Y>C | B:148 | (52.34, -5.11, 45.32) | |
| 15:72502134 | rs112954819 | M>V | B:149 | (53.85, -2.38, 51.85) |
| 15:72502128 | K>E | B:151 | (52.07, 0.22, 45.03) | |
| 15:72502125 | rs368549979 | C>G | B:152 | (47.48, -0.35, 47.69) |
| 15:72502122 | D>N | B:153 | (45.04, -0.46, 44.04) | |
| 15:72502115 | rs61753428 | N>S | B:155 | (43.00, -3.85, 41.14) |
| 15:72502113 | I>L | B:156 | (46.57, -4.57, 44.12) | |
| 15:72502103 | L>P | B:159 | (47.29, -8.07, 54.06) | |
| 15:72502095 | K>E | B:162 | (53.03, -13.43, 56.37) | |
| 15:72502018 | Q>H | B:187 | (40.37, -17.93, 42.61) | |
| 15:72501227 | rs200525707 | D>N | B:191 | (51.28, -16.01, 47.60) |
| 15:72501214 | T>M | B:195 | (38.38, -11.26, 46.09) | |
| 15:72501200 | rs11558354 | G>S | B:200 | (30.74, -0.86, 48.44) |
| 15:72501193 | rs141732747 | S>F | B:202 | (35.62, 4.03, 50.76) |
| 15:72501163 | P>R | B:212 | (34.84, -13.88, 61.67) | |
| 15:72501157 | rs182730190 | A>V | B:214 | (38.98, -17.64, 62.42) |
| 15:72501143 | rs552662710 | P>S | B:219 | (51.02, -12.51, 69.28) |
| 15:72501133 | rs143294717 | S>L | B:222 | (54.04, -7.64, 68.97) |
| 15:72501118 | Q>R | B:227 | (59.08, -1.26, 68.54) | |
| 15:72501119 | Q>K | B:227 | (59.08, -1.26, 68.54) | |
| 15:72501098 | rs149108298 | E>K | B:234 | (60.80, 7.05, 75.05) |
| 15:72501094 | rs149152236 | Q>L | B:235 | (57.17, 10.58, 74.06) |
| 15:72501092 | rs548240358 | D>N | B:236 | (55.45, 11.11, 79.61) |
| 15:72501082 | M>T | B:239 | (46.63, 6.66, 78.99) | |
| 15:72501083 | M>L | B:239 | (46.63, 6.66, 78.99) | |
| 15:72501073 | COSM1287178 COSM1287179 |
A>V | B:242 | (45.05, -2.27, 74.75) |
| 15:72501061 | R>H | B:246 | (43.18, -12.27, 73.35) | |
| 15:72501059 | rs369499375 | K>E | B:247 | (43.83, -13.71, 77.54) |
| 15:72501044 | H>N | B:252 | (49.05, -9.85, 83.66) | |
| 15:72501038 | V>L | B:254 | (51.15, -4.88, 78.60) | |
| 15:72501030 | K>N | B:256 | (55.55, -8.34, 82.71) | |
| 15:72501001 | rs145060432 | K>R | B:266 | (46.74, 4.09, 84.17) |
| 15:72500998 | rs376321558 | I>T | B:267 | (46.72, -0.70, 81.27) |
| 15:72500980 | N>T | B:273 | (37.25, -10.25, 70.77) | |
| 15:72500966 | R>W | B:278 | (34.67, -16.54, 77.05) | |
| 15:72499612 | D>E | B:281 | (35.11, -10.81, 84.93) | |
| 15:72499607 | I>N | B:283 | (40.23, -8.62, 81.28) | |
| 15:72499578 | A>S | B:293 | (35.63, -1.49, 70.99) | |
| 15:72499554 | I>V | B:301 | (30.18, -9.79, 68.04) | |
| 15:72499551 | P>A | B:302 | (26.79, -10.40, 66.48) | |
| 15:72499508 | R>Q | B:316 | (30.34, -6.57, 84.95) | |
| 15:72499509 | rs147956260 | R>W | B:316 | (30.34, -6.57, 84.95) |
| 15:72499502 | rs149836418 | N>S | B:318 | (30.23, 1.65, 87.06) |
| 15:72499485 | V>I | B:324 | (34.24, 2.75, 81.11) | |
| 15:72499193 | rs2959910 CM097299 |
R>H | B:339 | (22.87, 17.77, 62.28) |
| 15:72499190 | P>H | B:340 | (24.25, 14.77, 64.14) | |
| 15:72499187 | T>I | B:341 | (22.29, 11.11, 63.04) | |
| 15:72499172 | S>N | B:346 | (20.79, 8.42, 71.13) | |
| 15:72499140 | D>N | B:357 | (33.64, 7.17, 82.97) | |
| 15:72499134 | I>V | B:359 | (32.60, 10.03, 75.31) | |
| 15:72499100 | Y>C | B:370 | (32.44, 19.28, 59.54) | |
| 15:72499086 | V>M | B:375 | (34.05, 17.99, 70.40) | |
| 15:72499082 | COSM1147602 COSM701317 |
R>H | B:376 | (32.01, 22.68, 69.34) |
| 15:72499083 | R>C | B:376 | (32.01, 22.68, 69.34) | |
| 15:72495523 | rs199599246 | R>C | B:383 | (25.84, 20.20, 79.70) |
| 15:72495495 | rs191520472 | R>H | B:392 | (18.69, 9.79, 93.82) |
| 15:72495496 | rs199853847 | R>C | B:392 | (18.69, 9.79, 93.82) |
| 15:72495474 | V>A | B:399 | (24.98, 2.76, 99.66) | |
| 15:72495465 | rs546090006 | S>L | B:402 | (29.43, -1.45, 98.48) |
| 15:72495463 | S>G | B:403 | (32.13, -3.44, 99.56) | |
| 15:72495449 | rs374523679 | D>E | B:407 | (40.26, 2.26, 103.46) |
| 15:72495443 | M>I | B:409 | (40.26, 6.66, 102.04) | |
| 15:72495444 | M>R | B:409 | (40.26, 6.66, 102.04) | |
| 15:72495421 | COSM555813 | V>M | B:417 | (29.06, 11.38, 98.43) |
| 15:72495399 | L>S | B:424 | (23.35, 20.67, 97.77) | |
| 15:72495375 | rs201350316 COSM1726964 |
T>M | B:432 | (45.30, 13.97, 95.31) |
| 15:72492979 | A>V | B:442 | (34.01, 8.90, 91.57) | |
| 15:72492970 | R>H | B:445 | (29.35, 8.04, 89.62) | |
| 15:72492940 | COSM1152880 COSM964582 |
R>Q | B:455 | (51.68, 20.48, 94.35) |
| 15:72492922 | rs141505399 | R>H | B:461 | (48.27, 14.46, 82.56) |
| 15:72492923 | R>C | B:461 | (48.27, 14.46, 82.56) | |
| 15:72492917 | rs542685905 | A>S | B:463 | (41.57, 12.13, 86.09) |
| 15:72492911 | COSM1301398 COSM1301399 |
L>M | B:465 | (39.98, 7.99, 82.74) |
| 15:72492905 | COSM4056648 COSM4056647 COSM4056649 |
R>C | B:467 | (31.22, 10.18, 85.21) |
| 15:72492881 | K>E | B:475 | (52.47, 25.07, 88.98) | |
| 15:72492863 | A>T | B:481 | (53.60, 24.79, 106.97) | |
| 15:72492847 | V>A | B:486 | (46.51, 22.10, 103.19) | |
| 15:72492848 | V>M | B:486 | (46.51, 22.10, 103.19) | |
| 15:72492842 | L>F | B:488 | (47.60, 27.49, 99.55) | |
| 15:72492839 | R>W | B:489 | (47.07, 21.98, 98.63) | |
| 15:72492827 | A>T | B:493 | (40.01, 25.20, 94.71) | |
| 15:72492820 | N>I | B:495 | (40.22, 30.66, 93.64) | |
| 15:72492088 | COSM3816687 COSM3816686 COSM3816688 |
R>Q | B:500 | (36.51, 26.59, 86.11) |
| 15:72492085 | G>D | B:501 | (30.90, 28.26, 88.34) | |
| 15:72492059 | I>L | B:510 | (32.65, 18.86, 100.86) | |
| 15:72492040 | R>H | B:516 | (51.41, 11.38, 107.03) | |
| 15:72492041 | COSM1588081 COSM964581 |
R>C | B:516 | (51.41, 11.38, 107.03) |
| 15:72492014 | M>V | B:525 | (34.46, 15.54, 106.02) | |
| 15:72492010 | R>H | B:526 | (37.17, 20.42, 106.41) | |
| 15:72491995 | rs371099168 | P>L | B:531 | (35.80, 32.34, 100.59) |