General Structure Information
| PDB ID | 1og2 |
| HGNC Gene Label(s) | CYP2C9 |
| Structure Name | structure of human cytochrome p450 cyp2c9 |
| Resolution | 2.6Å |
| Reference | AUTH P.A.WILLIAMS,J.COSME,A.WARD,H.C.ANGOVE,AUTH 2 D.MATAK VINKOVIC,H.JHOTITITL CRYSTAL STRUCTURE OF HUMAN CYTOCHROME P450 2C9TITL 2 WITH BOUND WARFARINREF NATURE V. 424 464 2003REFN ISSN 0028-0836PMID 12861225DOI 10.1038/NATURE01862 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 461 |
| Number Of SNVs | 161 |
| Number Of Permutations | 57026 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.086 |
| p-value | 0.198 |
COSMIC
| Number Of Residues | 461 |
| Number Of SNVs | 18 |
| Number Of Permutations | 6481 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.124 |
| p-value | 0.09 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 161 |
| Number Of COSMIC SNVs | 14 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | -0.023 |
| p-value | 0.426 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:96698528 | rs142240658 | P>L | A:30 | (7.14, 62.13, 48.24) |
| 10:96698533 | G>R | A:32 | (9.62, 68.54, 50.64) | |
| 10:96698539 | T>S | A:34 | (6.36, 72.74, 53.73) | |
| 10:96698543 | P>L | A:35 | (3.58, 74.18, 51.21) | |
| 10:96698546 | L>R | A:36 | (2.87, 78.79, 52.36) | |
| 10:96698548 | COSM1284394 | P>S | A:37 | (-1.21, 78.61, 52.27) |
| 10:96698554 | I>F | A:39 | (2.20, 81.22, 47.97) | |
| 10:96698558 | G>V | A:40 | (3.27, 77.60, 47.61) | |
| 10:96698561 | N>I | A:41 | (6.93, 75.95, 47.30) | |
| 10:96698563 | rs111639787 | I>V | A:42 | (6.94, 81.20, 45.05) |
| 10:96698574 | I>M | A:45 | (11.27, 78.44, 43.58) | |
| 10:96698576 | G>D | A:46 | (10.86, 81.58, 42.39) | |
| 10:96698585 | rs564813580 | D>G | A:49 | (17.52, 80.41, 37.78) |
| 10:96698587 | I>V | A:50 | (13.69, 77.67, 38.49) | |
| 10:96698597 | S>F | A:53 | (16.39, 76.73, 43.07) | |
| 10:96698603 | T>I | A:55 | (20.34, 72.33, 42.46) | |
| 10:96698606 | N>S | A:56 | (20.06, 74.74, 45.99) | |
| 10:96701636 | V>M | A:64 | (13.20, 62.47, 44.48) | |
| 10:96701646 | L>P | A:67 | (7.92, 71.54, 44.19) | |
| 10:96701654 | rs371055887 | G>R | A:70 | (0.84, 76.28, 44.31) |
| 10:96701655 | G>D | A:70 | (0.84, 76.28, 44.31) | |
| 10:96701658 | rs538852786 | L>R | A:71 | (-2.60, 74.21, 44.83) |
| 10:96701664 | P>L | A:73 | (1.52, 68.35, 42.59) | |
| 10:96701666 | rs111808915 | I>V | A:74 | (5.68, 69.11, 40.77) |
| 10:96701667 | I>T | A:74 | (5.68, 69.11, 40.77) | |
| 10:96701693 | V>M | A:83 | (17.07, 61.17, 34.88) | |
| 10:96701703 | A>D | A:86 | (12.99, 57.36, 34.63) | |
| 10:96701709 | rs139656048 | I>T | A:88 | (16.04, 55.16, 30.10) |
| 10:96701715 | rs72558187 | L>P | A:90 | (10.71, 53.26, 34.35) |
| 10:96701717 | rs377542177 | G>R | A:91 | (9.89, 54.98, 30.03) |
| 10:96701722 | E>D | A:92 | (6.01, 53.68, 28.50) | |
| 10:96701748 | P>L | A:101 | (-1.45, 76.26, 33.61) | |
| 10:96701758 | rs367848139 | E>D | A:104 | (-4.10, 73.66, 29.83) |
| 10:96701762 | A>T | A:106 | (-2.49, 78.38, 24.62) | |
| 10:96701763 | COSM1135073 | A>D | A:106 | (-2.49, 78.38, 24.62) |
| 10:96701768 | R>G | A:108 | (-7.69, 76.38, 21.32) | |
| 10:96701771 | COSM3441990 | G>R | A:109 | (-4.75, 71.38, 20.01) |
| 10:96701960 | S>R | A:115 | (0.14, 64.66, 22.70) | |
| 10:96701973 | K>T | A:119 | (-3.03, 61.97, 19.16) | |
| 10:96701987 | R>W | A:124 | (7.55, 60.62, 18.42) | |
| 10:96701990 | rs375805362 | R>C | A:125 | (6.20, 54.81, 14.59) |
| 10:96701997 | rs530507053 | S>F | A:127 | (7.21, 62.17, 12.38) |
| 10:96702003 | M>K | A:129 | (9.21, 57.14, 9.50) | |
| 10:96702011 | rs199523631 | R>W | A:132 | (13.59, 58.21, 7.72) |
| 10:96702012 | rs200183364 COSM1718561 CM087577 |
R>Q | A:132 | (13.59, 58.21, 7.72) |
| 10:96702019 | F>L | A:134 | (17.43, 59.44, 1.93) | |
| 10:96702023 | rs377477630 | M>L | A:136 | (10.31, 62.81, 2.61) |
| 10:96702047 | rs1799853 | R>C | A:144 | (15.50, 69.73, 2.25) |
| 10:96702048 | rs141489852 | R>H | A:144 | (15.50, 69.73, 2.25) |
| 10:96702062 | A>T | A:149 | (23.99, 76.96, 4.29) | |
| 10:96702065 | rs17847037 | R>C | A:150 | (24.08, 77.09, -0.78) |
| 10:96702069 | rs369217316 | C>Y | A:151 | (21.62, 80.81, 1.69) |
| 10:96702072 | L>P | A:152 | (23.27, 81.44, 6.24) | |
| 10:96702077 | E>K | A:154 | (25.04, 85.16, -0.09) | |
| 10:96707539 | rs72558190 CM057839 |
S>L | A:162 | (29.01, 95.39, 9.06) |
| 10:96707548 | D>G | A:165 | (21.78, 91.31, 15.61) | |
| 10:96707551 | COSM3441997 | P>L | A:166 | (22.92, 87.77, 14.54) |
| 10:96707565 | G>C | A:171 | (16.34, 82.38, 12.47) | |
| 10:96707569 | rs147617899 | C>S | A:172 | (15.59, 82.54, 9.08) |
| 10:96707571 | rs373758696 | A>T | A:173 | (17.57, 79.06, 8.70) |
| 10:96707574 | rs199539783 | P>A | A:174 | (16.16, 77.33, 11.22) |
| 10:96707578 | C>F | A:175 | (12.22, 78.31, 9.73) | |
| 10:96707587 | rs142123260 | I>S | A:178 | (10.98, 73.40, 9.11) |
| 10:96707592 | rs367922573 | S>P | A:180 | (11.69, 72.55, 2.98) |
| 10:96707593 | rs200149294 | S>F | A:180 | (11.69, 72.55, 2.98) |
| 10:96707595 | I>V | A:181 | (10.78, 69.51, 5.87) | |
| 10:96707610 | rs150435881 | R>C | A:186 | (14.39, 78.31, 0.48) |
| 10:96707622 | rs200629270 | K>E | A:190 | (13.19, 89.10, 0.50) |
| 10:96707648 | COSM3442000 | M>I | A:198 | (9.80, 84.32, 11.34) |
| 10:96707650 | E>V | A:199 | (5.88, 88.67, 12.54) | |
| 10:96707654 | K>N | A:200 | (3.26, 85.44, 13.88) | |
| 10:96707667 | I>F | A:205 | (9.81, 83.39, 21.38) | |
| 10:96707669 | I>M | A:205 | (9.81, 83.39, 21.38) | |
| 10:96707672 | rs374225039 | K>N | A:206 | (8.78, 88.64, 22.89) |
| 10:96707673 | I>F | A:207 | (4.70, 86.33, 24.74) | |
| 10:96707678 | rs368462490 | L>F | A:208 | (6.61, 82.23, 25.95) |
| 10:96707683 | S>N | A:210 | (7.83, 87.02, 30.37) | |
| 10:96707686 | P>L | A:211 | (9.34, 87.03, 33.59) | |
| 10:96707691 | rs372756508 | I>L | A:213 | (4.90, 83.00, 32.07) |
| 10:96707692 | rs376006545 | I>T | A:213 | (4.90, 83.00, 32.07) |
| 10:96707694 | Q>K | A:214 | (6.40, 80.46, 35.87) | |
| 10:96708875 | N>I | A:218 | (2.43, 79.54, 40.79) | |
| 10:96708895 | Y>H | A:225 | (-8.61, 88.17, 37.22) | |
| 10:96708907 | T>P | A:229 | (-0.84, 86.12, 27.85) | |
| 10:96708910 | H>D | A:230 | (-4.35, 83.19, 26.75) | |
| 10:96708912 | H>Q | A:230 | (-4.35, 83.19, 26.75) | |
| 10:96708926 | K>R | A:235 | (-4.61, 85.85, 17.63) | |
| 10:96708929 | rs549167718 | N>T | A:236 | (-0.13, 84.08, 16.74) |
| 10:96708931 | V>I | A:237 | (-1.39, 79.30, 16.61) | |
| 10:96708932 | V>A | A:237 | (-1.39, 79.30, 16.61) | |
| 10:96708935 | A>V | A:238 | (-4.46, 80.43, 14.15) | |
| 10:96708941 | rs369745682 | M>T | A:240 | (0.73, 79.58, 12.23) |
| 10:96708953 | I>T | A:244 | (-0.41, 75.36, 7.42) | |
| 10:96708974 | rs2256871 | H>R | A:251 | (0.44, 70.15, -1.12) |
| 10:96708986 | M>R | A:255 | (-1.11, 64.80, -4.02) | |
| 10:96708995 | N>S | A:258 | (2.92, 56.56, -5.74) | |
| 10:96708998 | N>S | A:259 | (5.77, 60.26, -6.14) | |
| 10:96709004 | Q>P | A:261 | (8.22, 65.42, -3.03) | |
| 10:96709009 | F>L | A:263 | (5.14, 66.20, 7.19) | |
| 10:96709028 | M>R | A:269 | (-0.08, 59.31, 1.46) | |
| 10:96709034 | M>T | A:271 | (-5.19, 60.80, 5.65) | |
| 10:96731861 | rs370407644 COSM3442006 |
E>K | A:274 | (-5.77, 55.13, 8.51) |
| 10:96731871 | rs374108919 | N>S | A:277 | (-9.27, 52.05, 9.89) |
| 10:96731876 | rs182132442 | P>T | A:279 | (-11.24, 55.81, 14.14) |
| 10:96731904 | E>G | A:288 | (-3.42, 72.36, 10.96) | |
| 10:96731926 | F>L | A:295 | (7.24, 75.65, 11.73) | |
| 10:96731936 | rs72558192 | T>A | A:299 | (12.87, 77.74, 15.21) |
| 10:96731943 | T>M | A:301 | (16.30, 75.82, 20.33) | |
| 10:96731949 | S>I | A:303 | (18.33, 80.14, 16.74) | |
| 10:96731954 | T>S | A:305 | (22.24, 77.09, 19.77) | |
| 10:96731967 | A>V | A:309 | (27.91, 79.80, 19.18) | |
| 10:96740946 | V>A | A:323 | (37.37, 74.98, 13.97) | |
| 10:96740949 | Q>R | A:324 | (38.97, 78.18, 10.92) | |
| 10:96740951 | E>K | A:325 | (43.29, 74.44, 12.10) | |
| 10:96740958 | rs57505750 | I>T | A:327 | (37.31, 73.68, 8.02) |
| 10:96740964 | R>H | A:329 | (42.63, 68.80, 8.07) | |
| 10:96740967 | V>A | A:330 | (38.66, 67.95, 6.18) | |
| 10:96740981 | rs28371685 | R>W | A:335 | (34.01, 70.40, -0.19) |
| 10:96740982 | rs367826293 COSM921746 |
R>Q | A:335 | (34.01, 70.40, -0.19) |
| 10:96740988 | rs58368927 | P>L | A:337 | (30.13, 71.47, 4.20) |
| 10:96741000 | D>G | A:341 | (33.11, 66.01, 6.64) | |
| 10:96741002 | R>G | A:342 | (30.04, 64.97, 12.40) | |
| 10:96741007 | S>R | A:343 | (34.20, 61.71, 11.40) | |
| 10:96741009 | H>L | A:344 | (36.98, 62.50, 9.21) | |
| 10:96741012 | rs201055266 | M>T | A:345 | (35.83, 67.66, 11.82) |
| 10:96741013 | M>I | A:345 | (35.83, 67.66, 11.82) | |
| 10:96741014 | rs376725916 | P>S | A:346 | (37.18, 65.86, 16.15) |
| 10:96741020 | T>A | A:348 | (34.17, 70.88, 15.22) | |
| 10:96741023 | D>N | A:349 | (31.76, 67.08, 17.18) | |
| 10:96741038 | COSM3935237 CM074766 |
E>K | A:354 | (30.84, 72.42, 25.47) |
| 10:96741053 | rs1057910 | I>L | A:359 | (23.79, 76.87, 26.52) |
| 10:96741054 | rs56165452 | I>T | A:359 | (23.79, 76.87, 26.52) |
| 10:96741056 | D>N | A:360 | (21.04, 74.43, 30.05) | |
| 10:96741062 | rs578144976 | L>V | A:362 | (15.64, 73.33, 27.58) |
| 10:96741069 | T>I | A:364 | (13.27, 71.75, 32.98) | |
| 10:96741077 | P>S | A:367 | (6.86, 69.22, 31.09) | |
| 10:96741078 | P>H | A:367 | (6.86, 69.22, 31.09) | |
| 10:96741080 | H>Y | A:368 | (8.05, 64.49, 31.21) | |
| 10:96741087 | V>A | A:370 | (3.24, 59.60, 35.32) | |
| 10:96741094 | C>W | A:372 | (0.79, 54.93, 36.07) | |
| 10:96741113 | Y>H | A:379 | (9.75, 58.27, 47.60) | |
| 10:96741114 | Y>C | A:379 | (9.75, 58.27, 47.60) | |
| 10:96741116 | rs376551924 | L>F | A:380 | (3.54, 56.40, 45.59) |
| 10:96741123 | P>L | A:382 | (0.51, 59.61, 41.49) | |
| 10:96741125 | COSM3442016 | K>E | A:383 | (-2.34, 58.20, 36.37) |
| 10:96745793 | T>S | A:385 | (2.14, 63.35, 38.68) | |
| 10:96745799 | I>V | A:387 | (7.62, 64.75, 36.24) | |
| 10:96745806 | COSM686008 | I>T | A:389 | (13.45, 66.11, 33.96) |
| 10:96745809 | COSM3868123 | S>F | A:390 | (17.20, 68.44, 35.74) |
| 10:96745827 | rs187793133 | H>R | A:396 | (26.17, 71.96, 33.98) |
| 10:96745854 | E>V | A:405 | (29.07, 77.18, 35.45) | |
| 10:96745862 | D>N | A:408 | (36.45, 73.31, 27.68) | |
| 10:96745864 | D>E | A:408 | (36.45, 73.31, 27.68) | |
| 10:96745866 | P>H | A:409 | (36.07, 72.17, 24.15) | |
| 10:96745883 | E>K | A:415 | (44.67, 62.18, 25.25) | |
| 10:96745895 | rs571415247 | F>I | A:419 | (34.02, 62.96, 20.25) |
| 10:96745904 | rs145299907 | S>G | A:422 | (28.74, 61.71, 27.39) |
| 10:96745910 | rs147634562 | Y>H | A:424 | (26.60, 62.46, 32.46) |
| 10:96745923 | F>S | A:428 | (18.63, 67.01, 22.01) | |
| 10:96748609 | COSM175467 | R>W | A:433 | (7.85, 62.60, 24.89) |
| 10:96748625 | E>G | A:438 | (18.78, 64.17, 18.16) | |
| 10:96748634 | rs565889722 | A>V | A:441 | (19.99, 69.71, 14.84) |
| 10:96748636 | rs368545396 COSM122462 |
G>S | A:442 | (23.00, 68.49, 13.97) |
| 10:96748641 | M>I | A:443 | (22.20, 67.80, 10.07) | |
| 10:96748648 | rs371491081 | F>L | A:446 | (28.73, 70.04, 11.26) |
| 10:96748653 | rs59485260 | L>F | A:447 | (26.22, 71.77, 8.02) |
| 10:96748673 | Q>R | A:454 | (34.27, 77.60, 4.78) | |
| 10:96748674 | COSM176457 | Q>H | A:454 | (34.27, 77.60, 4.78) |
| 10:96748682 | rs202201137 | N>S | A:457 | (36.96, 85.41, 9.96) |
| 10:96748684 | COSM428181 COSM540044 |
L>V | A:458 | (33.74, 85.79, 13.65) |
| 10:96748711 | COSM921748 | L>F | A:467 | (32.33, 89.73, 25.95) |
| 10:96748712 | L>P | A:467 | (32.33, 89.73, 25.95) | |
| 10:96748721 | T>I | A:470 | (26.40, 84.67, 31.54) | |
| 10:96748727 | rs376962288 | V>A | A:472 | (19.60, 85.70, 30.30) |
| 10:96748730 | V>A | A:473 | (17.69, 82.69, 33.12) | |
| 10:96748733 | rs141011391 | N>S | A:474 | (13.78, 84.32, 32.70) |
| 10:96748741 | A>T | A:477 | (14.54, 80.12, 29.56) | |
| 10:96748751 | rs530950257 | P>L | A:480 | (21.85, 84.75, 24.64) |
| 10:96748777 | rs9332239 | P>S | A:489 | (35.33, 87.89, 4.22) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:96698548 | COSM1284394 | P>S | A:37 | (-1.21, 78.61, 52.27) |
| 10:96701682 | COSM1702806 | G>E | A:79 | (20.24, 63.45, 38.65) |
| 10:96701699 | COSM3441988 | E>K | A:85 | (15.92, 54.89, 37.57) |
| 10:96701771 | COSM3441990 | G>R | A:109 | (-4.75, 71.38, 20.01) |
| 10:96702012 | COSM1718561 | R>Q | A:132 | (13.59, 58.21, 7.72) |
| 10:96707649 | COSM3442001 | E>K | A:199 | (5.88, 88.67, 12.54) |
| 10:96708881 | COSM1702808 | S>F | A:220 | (-3.91, 79.79, 37.71) |
| 10:96708896 | COSM1970852 | Y>C | A:225 | (-8.61, 88.17, 37.22) |
| 10:96708970 | COSM1970858 | E>K | A:250 | (-1.35, 74.66, -2.62) |
| 10:96708988 | COSM1702809 | D>N | A:256 | (1.97, 62.06, -7.05) |
| 10:96709003 | COSM1745982 | Q>E | A:261 | (8.22, 65.42, -3.03) |
| 10:96731877 | COSM1702811 | P>L | A:279 | (-11.24, 55.81, 14.14) |
| 10:96731940 | COSM1675454 | E>A | A:300 | (13.89, 79.60, 19.82) |
| 10:96740982 | COSM921746 | R>Q | A:335 | (34.01, 70.40, -0.19) |
| 10:96741065 | COSM3442014 | P>S | A:363 | (16.75, 73.83, 32.11) |
| 10:96745844 | COSM540045 | P>S | A:402 | (35.29, 69.18, 35.62) |
| 10:96748624 | COSM141303 | E>K | A:438 | (18.78, 64.17, 18.16) |
| 10:96748643 | COSM1350008 | E>G | A:444 | (20.48, 72.71, 11.40) |