General Structure Information
| PDB ID | 2wsl |
| HGNC Gene Label(s) | BCHE |
| Structure Name | aged form of human butyrylcholinesterase inhibited by tabun analogue ta4 |
| Resolution | 2.0Å |
| Reference | AUTH E.CARLETTI,N.AURBEK,E.GILLON,M.LOIODICE,Y.NICOLET,AUTH 2 J.C.FONTECILLA-CAMPS,P.MASSON,H.THIERMANN,F.NACHON,F.WOREKTITL STRUCTURE-ACTIVITY ANALYSIS OF AGING AND REACTIVATION OFTITL 2 HUMAN BUTYRYLCHOLINESTERASE INHIBITED BY ANALOGUES OFTITL 3 TABUN.REF BIOCHEM.J. V. 421 97 2009REFN ISSN 0264-6021PMID 19368529DOI 10.1042/BJ20090091 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 526 |
| Number Of SNVs | 155 |
| Number Of Permutations | 60823 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.01 |
| p-value | 0.476 |
ClinVar
| Number Of Residues | 526 |
| Number Of SNVs | 7 |
| Number Of Permutations | 3078 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.048 |
| p-value | 0.906 |
COSMIC
| Number Of Residues | 526 |
| Number Of SNVs | 14 |
| Number Of Permutations | 11114 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.033 |
| p-value | 0.798 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 155 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.032 |
| p-value | 0.846 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 155 |
| Number Of COSMIC SNVs | 11 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.053 |
| p-value | 0.753 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:165548724 | I>T | A:5 | (17.96, 30.46, 51.11) | |
| 3:165548709 | N>S | A:10 | (22.12, 17.14, 51.70) | |
| 3:165548703 | rs116047990 | K>R | A:12 | (19.55, 25.76, 54.08) |
| 3:165548665 | V>L | A:25 | (19.52, 34.91, 36.94) | |
| 3:165548661 | rs377250579 | T>I | A:26 | (19.29, 32.76, 40.72) |
| 3:165548658 | rs114355070 | A>G | A:27 | (23.19, 31.57, 40.93) |
| 3:165548656 | rs531738678 CM034208 |
F>I | A:28 | (22.19, 28.49, 43.35) |
| 3:165548646 | I>T | A:31 | (26.22, 22.85, 44.91) | |
| 3:165548647 | I>V | A:31 | (26.22, 22.85, 44.91) | |
| 3:165548640 | rs116097205 | Y>C | A:33 | (28.27, 15.95, 42.97) |
| 3:165548629 | rs148170012 | P>S | A:37 | (37.54, 12.31, 45.84) |
| 3:165548626 | COSM729276 | L>V | A:38 | (40.19, 13.00, 49.08) |
| 3:165548622 | G>D | A:39 | (42.60, 9.22, 49.51) | |
| 3:165548609 | F>L | A:43 | (41.96, 6.01, 41.74) | |
| 3:165548611 | rs367844208 | F>I | A:43 | (41.96, 6.01, 41.74) |
| 3:165548592 | L>P | A:49 | (27.16, 14.32, 50.66) | |
| 3:165548529 | rs1799807 | D>G | A:70 | (46.95, 23.82, 26.31) |
| 3:165548524 | rs370612464 COSM4115011 |
S>C | A:72 | (50.85, 25.03, 23.13) |
| 3:165548508 | rs200035175 | H>R | A:77 | (41.20, 33.47, 23.99) |
| 3:165548500 | COSM1308790 | E>Q | A:80 | (44.85, 30.41, 27.32) |
| 3:165548495 | rs149045543 | M>I | A:81 | (38.94, 29.53, 25.63) |
| 3:165548496 | M>T | A:81 | (38.94, 29.53, 25.63) | |
| 3:165548497 | M>L | A:81 | (38.94, 29.53, 25.63) | |
| 3:165548494 | W>R | A:82 | (38.44, 25.68, 25.23) | |
| 3:165548488 | P>A | A:84 | (41.48, 25.56, 33.79) | |
| 3:165548479 | D>Y | A:87 | (41.93, 26.60, 42.09) | |
| 3:165548476 | rs374198965 | L>F | A:88 | (43.45, 22.52, 39.82) |
| 3:165548470 | E>K | A:90 | (41.84, 15.24, 44.36) | |
| 3:165548467 | rs137883811 | D>Y | A:91 | (37.77, 19.05, 46.55) |
| 3:165548451 | N>T | A:96 | (26.98, 24.80, 38.70) | |
| 3:165548441 | I>M | A:99 | (17.19, 29.66, 38.74) | |
| 3:165548433 | rs553041362 | P>R | A:102 | (10.61, 34.91, 38.69) |
| 3:165548419 | A>T | A:107 | (11.35, 23.85, 34.78) | |
| 3:165548416 | T>P | A:108 | (12.87, 22.26, 31.47) | |
| 3:165548407 | COSM1632956 | I>L | A:111 | (22.27, 18.58, 32.61) |
| 3:165548404 | W>R | A:112 | (27.44, 21.32, 28.98) | |
| 3:165548394 | rs201820739 CM973394 |
G>D | A:115 | (34.82, 18.50, 27.45) |
| 3:165548377 | G>R | A:121 | (37.88, 20.31, 32.28) | |
| 3:165548359 | V>I | A:127 | (31.74, 28.98, 26.77) | |
| 3:165548355 | rs121918558 | Y>F | A:128 | (31.03, 25.53, 29.17) |
| 3:165548332 | V>I | A:136 | (16.19, 33.77, 27.16) | |
| 3:165548313 | rs576781299 | V>A | A:142 | (22.79, 21.88, 35.68) |
| 3:165548305 | N>D | A:145 | (32.99, 19.62, 37.97) | |
| 3:165548301 | rs147790353 | Y>C | A:146 | (33.74, 15.18, 34.39) |
| 3:165548290 | rs149719695 | A>T | A:150 | (43.53, 8.79, 35.96) |
| 3:165548262 | N>I | A:159 | (39.41, -3.62, 41.52) | |
| 3:165548241 | M>T | A:166 | (35.70, 6.78, 38.12) | |
| 3:165548242 | M>V | A:166 | (35.70, 6.78, 38.12) | |
| 3:165548238 | G>D | A:167 | (33.40, 10.17, 35.88) | |
| 3:165548235 | L>S | A:168 | (30.93, 8.37, 33.52) | |
| 3:165548228 | D>E | A:170 | (31.32, 11.64, 39.12) | |
| 3:165548229 | D>V | A:170 | (31.32, 11.64, 39.12) | |
| 3:165548230 | D>N | A:170 | (31.32, 11.64, 39.12) | |
| 3:165548207 | rs568724445 COSM4115009 |
W>C | A:177 | (21.50, 17.71, 43.37) |
| 3:165548209 | W>R | A:177 | (21.50, 17.71, 43.37) | |
| 3:165548202 | Q>R | A:179 | (15.90, 13.43, 39.55) | |
| 3:165548190 | A>G | A:183 | (12.02, 20.80, 42.84) | |
| 3:165548187 | rs114706984 | A>V | A:184 | (13.47, 23.01, 45.23) |
| 3:165548184 | F>S | A:185 | (16.51, 24.69, 43.17) | |
| 3:165548182 | G>S | A:186 | (11.68, 24.67, 40.03) | |
| 3:165548179 | rs373564630 | G>R | A:187 | (12.11, 21.88, 38.80) |
| 3:165548169 | rs143560894 | K>R | A:190 | (8.96, 14.03, 35.41) |
| 3:165548146 | rs370077923 CM960157 |
S>G | A:198 | (33.25, 16.11, 22.56) |
| 3:165548139 | COSM1660748 | G>E | A:200 | (30.29, 15.03, 26.54) |
| 3:165548134 | A>S | A:202 | (30.22, 10.79, 24.60) | |
| 3:165548128 | V>F | A:204 | (25.30, 12.07, 26.62) | |
| 3:165548094 | S>L | A:215 | (15.73, 7.28, 35.64) | |
| 3:165548091 | L>S | A:216 | (18.65, 9.85, 36.05) | |
| 3:165548082 | COSM1420411 | R>T | A:219 | (14.34, 14.64, 25.86) |
| 3:165548064 | G>A | A:225 | (29.85, 13.36, 19.73) | |
| 3:165548059 | F>L | A:227 | (29.81, 5.01, 21.59) | |
| 3:165548056 | N>H | A:228 | (30.85, 5.72, 17.78) | |
| 3:165548049 | P>L | A:230 | (37.69, 6.64, 17.46) | |
| 3:165548043 | A>V | A:232 | (35.66, 7.19, 23.31) | |
| 3:165548044 | A>T | A:232 | (35.66, 7.19, 23.31) | |
| 3:165548035 | S>T | A:235 | (40.54, -1.32, 25.63) | |
| 3:165548023 | COSM3846664 | A>S | A:239 | (43.73, -0.13, 30.35) |
| 3:165548010 | rs28933389 | T>M | A:243 | (47.19, 0.96, 34.82) |
| 3:165547973 | rs16849700 | E>D | A:255 | (52.91, -8.18, 43.56) |
| 3:165547974 | rs375775245 | E>G | A:255 | (52.91, -8.18, 43.56) |
| 3:165547959 | I>T | A:260 | (49.30, -1.30, 42.05) | |
| 3:165547960 | I>V | A:260 | (49.30, -1.30, 42.05) | |
| 3:165547952 | K>N | A:262 | (48.19, 1.25, 48.83) | |
| 3:165547951 | rs564041751 | C>S | A:263 | (51.04, 3.12, 45.63) |
| 3:165547944 | R>K | A:265 | (45.13, 4.91, 47.15) | |
| 3:165547942 | rs550866478 | N>Y | A:266 | (50.26, 7.01, 48.65) |
| 3:165547938 | rs115624085 | K>R | A:267 | (52.17, 8.94, 44.47) |
| 3:165547896 | P>L | A:281 | (53.79, 4.23, 22.99) | |
| 3:165547893 | Y>C | A:282 | (52.22, 4.89, 19.40) | |
| 3:165547888 | rs114991020 | T>S | A:284 | (47.49, 11.46, 18.98) |
| 3:165547885 | rs572660949 | P>S | A:285 | (46.67, 15.17, 18.71) |
| 3:165547881 | rs142586213 | L>W | A:286 | (42.76, 13.10, 19.11) |
| 3:165547863 | rs116607681 | P>L | A:292 | (35.69, 5.46, 28.72) |
| 3:165547864 | P>A | A:292 | (35.69, 5.46, 28.72) | |
| 3:165547858 | COSM207717 CM080101 |
V>M | A:294 | (33.73, -2.37, 29.40) |
| 3:165547852 | G>S | A:296 | (30.16, -4.02, 34.24) | |
| 3:165547832 | COSM1420409 | M>I | A:302 | (31.57, -4.03, 23.50) |
| 3:165547830 | rs150912772 | P>Q | A:303 | (29.43, 0.02, 23.34) |
| 3:165547825 | COSM1040854 | I>V | A:305 | (27.28, -4.94, 20.82) |
| 3:165547818 | rs104893684 | L>P | A:307 | (24.08, 1.06, 18.99) |
| 3:165547809 | G>E | A:310 | (18.89, -1.67, 21.03) | |
| 3:165547800 | K>R | A:313 | (16.72, 6.07, 27.06) | |
| 3:165547795 | rs537434945 CM025285 |
T>S | A:315 | (14.58, 9.13, 23.65) |
| 3:165547784 | L>F | A:318 | (19.93, 17.12, 19.02) | |
| 3:165547783 | V>M | A:319 | (23.04, 14.90, 16.73) | |
| 3:165547755 | A>D | A:328 | (42.29, 22.09, 15.78) | |
| 3:165547753 | F>V | A:329 | (42.58, 18.50, 16.78) | |
| 3:165547750 | rs121918557 | L>I | A:330 | (46.06, 19.90, 12.14) |
| 3:165547735 | P>S | A:335 | (53.90, 18.30, 9.75) | |
| 3:165547731 | G>A | A:336 | (53.32, 22.62, 8.41) | |
| 3:165547732 | G>C | A:336 | (53.32, 22.62, 8.41) | |
| 3:165547727 | rs139312740 | F>L | A:337 | (49.70, 22.20, 9.58) |
| 3:165547713 | N>S | A:342 | (48.62, 29.56, 4.69) | |
| 3:165547693 | rs534912670 | E>K | A:349 | (54.16, 18.15, 4.74) |
| 3:165547681 | G>S | A:353 | (50.29, 13.37, 9.29) | |
| 3:165547676 | L>F | A:354 | (48.36, 10.31, 7.81) | |
| 3:165547672 | rs146936556 | I>V | A:356 | (51.09, 12.36, 13.60) |
| 3:165547644 | G>E | A:365 | (45.87, 2.40, 5.53) | |
| 3:165547645 | rs115129687 | G>R | A:365 | (45.87, 2.40, 5.53) |
| 3:165547630 | COSM1040852 | L>F | A:370 | (46.53, 9.26, 0.23) |
| 3:165547624 | H>Y | A:372 | (38.65, 8.56, -0.20) | |
| 3:165547581 | COSM582360 COSM207715 |
R>H | A:386 | (45.12, 23.68, 4.05) |
| 3:165547582 | COSM4115002 CM034210 |
R>C | A:386 | (45.12, 23.68, 4.05) |
| 3:165547575 | A>V | A:388 | (42.59, 16.89, 3.39) | |
| 3:165547576 | A>T | A:388 | (42.59, 16.89, 3.39) | |
| 3:165547563 | rs369207253 | V>A | A:392 | (41.00, 12.89, 7.49) |
| 3:165547555 | D>Y | A:395 | (35.46, 12.99, 8.46) | |
| 3:165547539 | rs149097236 | C>Y | A:400 | (31.40, 9.62, 10.39) |
| 3:165547533 | rs562543522 | A>D | A:402 | (27.72, 11.02, 14.48) |
| 3:165547534 | A>S | A:402 | (27.72, 11.02, 14.48) | |
| 3:165547503 | rs539504704 | W>S | A:412 | (16.17, -0.45, 17.36) |
| 3:165547500 | COSM1040850 | G>E | A:413 | (12.08, 4.68, 16.36) |
| 3:165547493 | rs570544890 | N>K | A:415 | (12.15, 11.20, 16.61) |
| 3:165547495 | rs144987429 | N>H | A:415 | (12.15, 11.20, 16.61) |
| 3:165547492 | rs201490686 | A>T | A:416 | (16.29, 12.19, 15.13) |
| 3:165547479 | Y>S | A:420 | (27.26, 20.80, 8.62) | |
| 3:165547471 | rs373022811 | H>D | A:423 | (29.05, 30.97, 11.85) |
| 3:165547459 | K>E | A:427 | (34.93, 37.26, 18.52) | |
| 3:165547452 | COSM259029 | P>R | A:429 | (41.08, 33.52, 17.68) |
| 3:165547447 | P>T | A:431 | (43.47, 30.88, 11.70) | |
| 3:165547431 | V>G | A:436 | (33.74, 25.96, 11.24) | |
| 3:165547425 | H>R | A:438 | (36.03, 20.92, 18.04) | |
| 3:165547422 | G>D | A:439 | (33.80, 24.31, 19.81) | |
| 3:165547423 | G>S | A:439 | (33.80, 24.31, 19.81) | |
| 3:165547398 | G>V | A:447 | (24.15, 32.97, 24.25) | |
| 3:165547392 | rs200151790 | P>L | A:449 | (25.87, 35.92, 20.93) |
| 3:165547389 | COSM384436 | L>P | A:450 | (22.07, 36.94, 22.92) |
| 3:165547384 | rs150384913 | R>G | A:452 | (22.66, 43.68, 21.73) |
| 3:165547376 | COSM729286 | D>E | A:454 | (30.45, 40.67, 23.45) |
| 3:165547372 | Y>H | A:456 | (29.54, 37.92, 19.25) | |
| 3:165547360 | rs200998515 CM034212 |
E>K | A:460 | (26.79, 36.24, 15.14) |
| 3:165547356 | E>G | A:461 | (21.70, 38.72, 18.16) | |
| 3:165547331 | K>N | A:469 | (13.66, 28.73, 21.03) | |
| 3:165547329 | rs559088873 | R>Q | A:470 | (15.60, 25.29, 16.42) |
| 3:165547330 | rs115017300 | R>W | A:470 | (15.60, 25.29, 16.42) |
| 3:165547323 | A>V | A:472 | (14.58, 24.61, 24.29) | |
| 3:165547321 | N>H | A:473 | (11.58, 23.99, 21.79) | |
| 3:165547318 | F>L | A:474 | (15.12, 18.40, 21.94) | |
| 3:165504092 | N>D | A:481 | (11.16, 23.01, 15.40) | |
| 3:165504085 | rs200768861 COSM3945100 |
T>S | A:483 | (7.32, 28.02, 15.79) |
| 3:165504073 | rs371869257 | S>T | A:487 | (11.61, 29.00, 10.32) |
| 3:165504067 | rs367912630 | S>N | A:489 | (11.16, 22.79, 9.35) |
| 3:165504062 | P>A | A:491 | (13.89, 17.41, 9.32) | |
| 3:165504043 | rs121918556 | E>V | A:497 | (15.74, 10.10, 3.19) |
| 3:165504028 | rs371901966 | T>N | A:502 | (22.19, 23.85, 7.65) |
| 3:165504022 | N>S | A:504 | (23.73, 29.40, 8.37) | |
| 3:165504004 | rs77586249 | I>T | A:510 | (16.55, 20.76, 4.31) |
| 3:165503989 | rs374499560 | R>H | A:515 | (30.95, 14.70, 4.91) |
| 3:165503990 | rs199660374 CM990287 |
R>C | A:515 | (30.95, 14.70, 4.91) |
| 3:165503987 | A>P | A:516 | (28.48, 9.83, 1.95) | |
| 3:165503978 | C>R | A:519 | (31.45, 7.93, 5.83) | |
| 3:165503974 | R>L | A:520 | (30.20, 5.35, 1.28) | |
| 3:165503965 | rs545173403 | T>I | A:523 | (31.87, 3.21, 8.38) |
| 3:165503962 | rs116333990 | S>L | A:524 | (32.37, 0.25, 5.63) |
| 3:165503959 | F>Y | A:525 | (37.99, -0.08, 4.34) | |
| 3:165503960 | F>L | A:525 | (37.99, -0.08, 4.34) | |
| 3:165503949 | K>N | A:528 | (37.77, -3.87, 7.43) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:165548529 | rs1799807 | D>G | A:70 | (46.95, 23.82, 26.31) |
| 3:165548355 | rs121918558 | Y>F | A:128 | (31.03, 25.53, 29.17) |
| 3:165548010 | rs28933389 | T>M | A:243 | (47.19, 0.96, 34.82) |
| 3:165547818 | rs104893684 | L>P | A:307 | (24.08, 1.06, 18.99) |
| 3:165547750 | rs121918557 | L>I | A:330 | (46.06, 19.90, 12.14) |
| 3:165547569 | rs28933390 | G>V | A:390 | (41.13, 17.90, 8.20) |
| 3:165504043 | rs121918556 | E>V | A:497 | (15.74, 10.10, 3.19) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:165548715 | COSM3408398 | T>K | A:8 | (18.81, 20.79, 49.92) |
| 3:165548691 | COSM3414408 | M>K | A:16 | (24.54, 34.69, 43.12) |
| 3:165548524 | COSM4115011 | S>R | A:72 | (50.85, 25.03, 23.13) |
| 3:165548199 | COSM1184559 | K>T | A:180 | (17.36, 13.16, 45.11) |
| 3:165548197 | COSM84834 | N>Y | A:181 | (17.56, 18.21, 45.03) |
| 3:165548127 | COSM207719 | V>G | A:204 | (25.30, 12.07, 26.62) |
| 3:165548090 | COSM218756 | L>F | A:216 | (18.65, 9.85, 36.05) |
| 3:165547858 | COSM207717 | V>M | A:294 | (33.73, -2.37, 29.40) |
| 3:165547692 | COSM1168986 | E>V | A:349 | (54.16, 18.15, 4.74) |
| 3:165547581 | COSM582360 | R>P | A:386 | (45.12, 23.68, 4.05) |
| 3:165547467 | COSM1040846 | R>Q | A:424 | (35.14, 31.63, 11.40) |
| 3:165547427 | COSM1420400 | M>I | A:437 | (37.13, 25.44, 14.88) |
| 3:165547429 | COSM1420402 | M>V | A:437 | (37.13, 25.44, 14.88) |
| 3:165547419 | COSM1617165 | Y>C | A:440 | (35.08, 27.65, 18.74) |
| 3:165547390 | COSM1536788 | L>M | A:450 | (22.07, 36.94, 22.92) |
| 3:165503998 | COSM1753002 | T>M | A:512 | (20.68, 14.81, 1.97) |
| 3:165503999 | COSM2156775 | T>A | A:512 | (20.68, 14.81, 1.97) |