General Structure Information
| PDB ID | 3lc4 |
| HGNC Gene Label(s) | CYP2E1 |
| Structure Name | human cytochrome p450 2e1 in complex with omega-imidazolyl-dodecanoic acid |
| Resolution | 3.1Å |
| Reference | AUTH P.R.PORUBSKY,K.P.BATTAILE,E.E.SCOTTTITL HUMAN CYTOCHROME P450 2E1 STRUCTURES WITH FATTY ACID ANALOGSTITL 2 REVEAL A PREVIOUSLY UNOBSERVED BINDING MODE.REF J.BIOL.CHEM. V. 285 22282 2010REFN ISSN 0021-9258PMID 20463018DOI 10.1074/JBC.M110.109017 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 459 |
| Number Of SNVs | 130 |
| Number Of Permutations | 24586 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.046 |
| p-value | 0.111 |
COSMIC
| Number Of Residues | 459 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1525 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.2 |
| p-value | 0.803 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 130 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | -0.261 |
| p-value | 0.551 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:135341005 | P>A | A:36 | (27.75, 12.32, 9.01) | |
| 10:135341008 | F>L | A:37 | (33.61, 12.13, 10.88) | |
| 10:135341012 | rs76271067 | P>R | A:38 | (31.96, 8.96, 11.89) |
| 10:135341026 | G>R | A:43 | (29.19, 7.38, 15.70) | |
| 10:135341031 | rs527949682 | N>K | A:44 | (26.81, 9.12, 13.13) |
| 10:135341054 | rs143746211 | N>S | A:52 | (12.04, 11.13, 16.16) |
| 10:135341060 | P>L | A:54 | (12.13, 9.63, 11.68) | |
| 10:135341068 | F>L | A:57 | (16.49, 9.43, 9.14) | |
| 10:135341071 | T>S | A:58 | (14.07, 14.66, 7.73) | |
| 10:135341075 | R>Q | A:59 | (19.01, 16.74, 10.66) | |
| 10:135341991 | Q>E | A:62 | (17.22, 18.95, 5.04) | |
| 10:135341992 | Q>R | A:62 | (17.22, 18.95, 5.04) | |
| 10:135341994 | rs374426412 | R>G | A:63 | (23.64, 18.05, 6.99) |
| 10:135342028 | S>L | A:74 | (29.33, -0.83, 13.47) | |
| 10:135342034 | rs72559710 | R>H | A:76 | (27.83, 0.29, 6.46) |
| 10:135342039 | V>M | A:78 | (21.93, 3.71, 3.14) | |
| 10:135342051 | COSM388425 | G>S | A:82 | (12.02, 10.34, -0.95) |
| 10:135342058 | K>R | A:84 | (13.47, 10.36, -7.44) | |
| 10:135342073 | A>V | A:89 | (15.41, 1.50, -3.99) | |
| 10:135342095 | E>D | A:96 | (20.13, -5.21, -5.97) | |
| 10:135342100 | S>L | A:98 | (16.69, -8.22, -1.18) | |
| 10:135342117 | P>S | A:104 | (18.18, -7.31, 17.69) | |
| 10:135342118 | rs543855005 | P>L | A:104 | (18.18, -7.31, 17.69) |
| 10:135342130 | A>E | A:108 | (13.79, -15.32, 17.76) | |
| 10:135345098 | F>C | A:116 | (12.16, -10.46, 11.24) | |
| 10:135345109 | P>S | A:120 | (18.33, -18.87, 2.00) | |
| 10:135345113 | T>I | A:121 | (14.77, -19.49, 3.69) | |
| 10:135345118 | rs377658981 | K>E | A:123 | (12.40, -16.33, -3.00) |
| 10:135345127 | rs60719153 | R>W | A:126 | (7.10, -13.52, 0.32) |
| 10:135345128 | rs56864127 | R>Q | A:126 | (7.10, -13.52, 0.32) |
| 10:135345130 | R>W | A:127 | (7.22, -17.50, -4.06) | |
| 10:135345131 | R>Q | A:127 | (7.22, -17.50, -4.06) | |
| 10:135345148 | rs148644999 | L>F | A:133 | (-2.73, -15.38, 2.28) |
| 10:135345152 | R>Q | A:134 | (-4.46, -15.09, -3.96) | |
| 10:135345158 | Y>C | A:136 | (-7.19, -19.73, 2.88) | |
| 10:135345183 | E>D | A:144 | (-15.94, -10.11, 1.54) | |
| 10:135345187 | rs370419762 COSM3436050 |
R>W | A:146 | (-12.51, -14.71, 6.83) |
| 10:135345188 | R>Q | A:146 | (-12.51, -14.71, 6.83) | |
| 10:135345200 | rs200955165 | E>A | A:150 | (-15.28, -10.98, 13.20) |
| 10:135345207 | H>Q | A:152 | (-21.82, -10.31, 14.56) | |
| 10:135345212 | rs373427672 | L>R | A:154 | (-16.72, -5.18, 16.56) |
| 10:135345218 | rs142907528 | E>V | A:156 | (-22.07, -8.47, 20.17) |
| 10:135345223 | L>I | A:158 | (-19.04, -1.67, 20.21) | |
| 10:135345236 | Q>R | A:162 | (-24.76, 0.06, 26.88) | |
| 10:135345633 | rs201167793 | P>A | A:165 | (-16.70, 5.23, 29.00) |
| 10:135345645 | T>S | A:169 | (-6.85, -1.12, 22.44) | |
| 10:135345651 | L>F | A:171 | (-13.12, -3.93, 21.73) | |
| 10:135345654 | rs566294180 | I>V | A:172 | (-10.78, -2.40, 17.76) |
| 10:135345663 | rs56040284 | A>T | A:175 | (-11.02, -8.22, 14.59) |
| 10:135345664 | rs548262477 | A>V | A:175 | (-11.02, -8.22, 14.59) |
| 10:135345675 | rs6413419 | V>I | A:179 | (-9.40, -12.38, 10.46) |
| 10:135345680 | rs201427783 | I>M | A:180 | (-5.16, -13.78, 11.18) |
| 10:135345684 | rs76138620 | D>N | A:182 | (-10.02, -18.38, 10.49) |
| 10:135345696 | rs140500826 | R>C | A:186 | (-10.35, -23.96, 10.99) |
| 10:135345697 | rs200871390 COSM538282 |
R>H | A:186 | (-10.35, -23.96, 10.99) |
| 10:135345715 | N>S | A:192 | (-13.61, -12.08, 27.17) | |
| 10:135345722 | E>D | A:194 | (-7.47, -14.76, 30.51) | |
| 10:135345738 | M>L | A:200 | (-4.24, -8.46, 22.08) | |
| 10:135345762 | H>Y | A:208 | (5.03, 1.01, 23.86) | |
| 10:135345777 | rs577159401 | P>S | A:213 | (14.11, 5.34, 23.00) |
| 10:135346202 | rs41299426 | N>D | A:219 | (18.35, -2.05, 17.17) |
| 10:135346206 | N>T | A:220 | (21.87, -0.31, 16.57) | |
| 10:135346218 | F>S | A:224 | (28.03, -2.89, 23.87) | |
| 10:135346223 | H>Y | A:226 | (21.03, -8.81, 25.66) | |
| 10:135346230 | L>W | A:228 | (22.70, -4.31, 30.65) | |
| 10:135346235 | G>R | A:230 | (15.79, -3.51, 30.56) | |
| 10:135346250 | V>I | A:235 | (10.66, -7.25, 24.02) | |
| 10:135346253 | rs375484572 | I>L | A:236 | (13.34, -10.70, 24.44) |
| 10:135346259 | N>Y | A:238 | (7.00, -10.52, 25.30) | |
| 10:135346271 | V>I | A:242 | (4.12, -15.27, 20.89) | |
| 10:135346283 | COSM249734 | V>M | A:246 | (2.52, -20.10, 17.72) |
| 10:135346307 | COSM3866893 | H>Y | A:254 | (2.38, -32.50, 12.96) |
| 10:135346317 | L>Q | A:257 | (-1.99, -33.20, 9.50) | |
| 10:135346326 | N>S | A:260 | (-6.26, -34.90, 2.05) | |
| 10:135346332 | rs540609626 | P>L | A:262 | (-5.93, -28.57, 4.33) |
| 10:135346334 | rs372834832 | R>W | A:263 | (-7.13, -28.06, 9.62) |
| 10:135346335 | R>Q | A:263 | (-7.13, -28.06, 9.62) | |
| 10:135346340 | L>F | A:265 | (-1.79, -21.34, 6.71) | |
| 10:135346346 | rs201869253 | D>N | A:267 | (-2.54, -27.46, 7.89) |
| 10:135346364 | M>V | A:273 | (7.51, -30.25, 6.90) | |
| 10:135347273 | A>V | A:280 | (18.57, -33.05, 2.19) | |
| 10:135347278 | rs375149895 COSM204516 |
R>C | A:282 | (14.39, -28.54, 4.05) |
| 10:135347279 | COSM4012940 | R>H | A:282 | (14.39, -28.54, 4.05) |
| 10:135347287 | rs138201091 | T>A | A:285 | (11.89, -26.14, 10.28) |
| 10:135347296 | rs61710826 | G>S | A:288 | (9.87, -21.98, 10.52) |
| 10:135347303 | T>I | A:290 | (6.55, -21.38, 14.38) | |
| 10:135347305 | V>M | A:291 | (8.66, -17.92, 12.74) | |
| 10:135347315 | A>V | A:294 | (4.18, -15.47, 14.12) | |
| 10:135347330 | rs533468318 | A>V | A:299 | (1.15, -8.76, 11.62) |
| 10:135347332 | COSM3436057 | G>R | A:300 | (-2.31, -8.90, 11.35) |
| 10:135347335 | T>S | A:301 | (-3.15, -8.32, 14.92) | |
| 10:135347345 | T>S | A:304 | (-5.03, -3.38, 11.37) | |
| 10:135347348 | S>N | A:305 | (-5.48, -2.43, 15.66) | |
| 10:135347360 | R>I | A:309 | (-5.98, 2.37, 18.18) | |
| 10:135347368 | rs374740281 COSM1703290 |
L>F | A:312 | (-11.66, 5.65, 15.68) |
| 10:135347386 | Y>H | A:318 | (-10.61, 16.54, 12.17) | |
| 10:135347398 | rs138223492 | E>K | A:322 | (-18.22, 11.11, 11.94) |
| 10:135350569 | K>E | A:324 | (-18.97, 14.60, 4.85) | |
| 10:135350572 | L>V | A:325 | (-18.09, 9.08, 6.38) | |
| 10:135350585 | I>T | A:329 | (-22.63, 4.72, 5.25) | |
| 10:135350597 | I>T | A:333 | (-24.58, 0.74, 2.60) | |
| 10:135350598 | I>M | A:333 | (-24.58, 0.74, 2.60) | |
| 10:135350602 | P>A | A:335 | (-29.18, 1.54, 7.90) | |
| 10:135350622 | rs61644766 | I>M | A:341 | (-15.80, -5.22, -1.64) |
| 10:135350623 | K>E | A:342 | (-19.37, -4.43, -4.09) | |
| 10:135350645 | Y>C | A:349 | (-15.17, 11.74, 2.50) | |
| 10:135350659 | V>L | A:354 | (-9.18, 4.56, 4.46) | |
| 10:135350674 | R>W | A:359 | (-0.80, 10.58, 4.50) | |
| 10:135350675 | COSM204517 | R>Q | A:359 | (-0.80, 10.58, 4.50) |
| 10:135350680 | I>F | A:361 | (-0.74, 7.35, 10.77) | |
| 10:135350684 | rs372279263 | T>I | A:362 | (3.25, 7.24, 9.38) |
| 10:135350689 | V>M | A:364 | (6.19, 1.76, 9.19) | |
| 10:135350705 | P>L | A:369 | (15.02, -2.98, 7.69) | |
| 10:135350716 | rs59981143 | T>A | A:373 | (22.45, -8.67, -1.43) |
| 10:135350719 | rs370530375 | R>G | A:374 | (25.07, -7.09, -5.90) |
| 10:135350720 | R>Q | A:374 | (25.07, -7.09, -5.90) | |
| 10:135350723 | D>G | A:375 | (29.01, -5.15, -3.80) | |
| 10:135350724 | rs149273469 | D>E | A:375 | (29.01, -5.15, -3.80) |
| 10:135350733 | COSM415093 | F>L | A:378 | (21.64, 4.25, -5.38) |
| 10:135350738 | G>V | A:380 | (27.29, 6.88, -7.59) | |
| 10:135350753 | rs199856651 | K>R | A:385 | (27.28, -7.74, 1.10) |
| 10:135351276 | L>V | A:393 | (7.80, 4.96, 3.98) | |
| 10:135351280 | rs60207639 | D>G | A:394 | (8.12, 9.46, 6.48) |
| 10:135351285 | rs59656378 | V>L | A:396 | (6.94, 9.12, 0.44) |
| 10:135351298 | N>S | A:400 | (5.30, 19.36, 0.04) | |
| 10:135351301 | Q>P | A:401 | (4.60, 19.22, -4.11) | |
| 10:135351314 | D>E | A:405 | (-0.90, 21.17, 4.08) | |
| 10:135351352 | rs57702102 | N>S | A:418 | (-14.67, 15.88, -9.73) |
| 10:135351358 | K>M | A:420 | (-14.10, 10.19, -8.41) | |
| 10:135351369 | rs142767992 | S>G | A:424 | (-1.09, 8.53, -5.00) |
| 10:135351384 | rs151041343 | P>A | A:429 | (1.90, 2.57, 3.49) |
| 10:135352293 | V>A | A:436 | (5.56, -5.69, -0.41) | |
| 10:135352314 | A>D | A:443 | (-5.41, -4.65, 5.22) | |
| 10:135352316 | rs140969399 | R>C | A:444 | (-5.76, -1.77, 1.02) |
| 10:135352321 | rs199855848 | M>I | A:445 | (-10.49, -5.79, 2.67) |
| 10:135352356 | rs28969387 | H>L | A:457 | (-24.24, -0.04, 13.08) |
| 10:135352376 | rs187941410 | V>I | A:464 | (-12.17, 15.55, 25.10) |
| 10:135352380 | D>V | A:465 | (-13.32, 19.65, 22.82) | |
| 10:135352382 | P>S | A:466 | (-12.96, 18.14, 19.40) | |
| 10:135352383 | P>L | A:466 | (-12.96, 18.14, 19.40) | |
| 10:135352397 | L>F | A:471 | (-3.66, 13.45, 16.36) | |
| 10:135352437 | rs55982231 | R>H | A:484 | (-2.67, 4.61, 26.45) |
| 10:135352460 | COSM4012943 | R>C | A:492 | (-26.56, 5.31, 13.56) |
| 10:135352461 | rs147916524 | R>H | A:492 | (-26.56, 5.31, 13.56) |
| 10:135352464 | S>L | A:493 | (-30.15, 0.91, 15.83) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:135346216 | COSM1284398 | S>R | A:223 | (26.56, -6.44, 22.45) |
| 10:135346283 | COSM249734 | V>M | A:246 | (2.52, -20.10, 17.72) |
| 10:135350622 | COSM4175944 | I>M | A:341 | (-15.80, -5.22, -1.64) |
| 10:135350649 | COSM3436060 | M>I | A:350 | (-14.76, 5.75, 3.39) |
| 10:135351261 | COSM2156359 | V>L | A:388 | (21.26, -1.29, 6.54) |
| 10:135352394 | COSM1202861 | D>Y | A:470 | (-2.51, 15.64, 20.23) |