General Structure Information
| PDB ID | 3t3s |
| HGNC Gene Label(s) | CYP2A13 |
| Structure Name | human cytochrome p450 2a13 in complex with pilocarpine |
| Resolution | 3.0Å |
| Reference | AUTH N.M.DEVORE,K.M.MENEELY,A.G.BART,E.S.STEPHENS,K.P.BATTAILE,AUTH 2 E.E.SCOTTTITL STRUCTURAL COMPARISON OF CYTOCHROMES P450 2A6, 2A13, AND 2E1TITL 2 WITH PILOCARPINE.REF FEBS J. V. 279 1621 2012REFN ISSN 1742-464XPMID 22051186DOI 10.1111/J.1742-4658.2011.08412.X |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 464 |
| Number Of SNVs | 158 |
| Number Of Permutations | 56796 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.017 |
| p-value | 0.632 |
COSMIC
| Number Of Residues | 464 |
| Number Of SNVs | 18 |
| Number Of Permutations | 15328 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.046 |
| p-value | 0.443 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 158 |
| Number Of COSMIC SNVs | 15 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.035 |
| p-value | 0.692 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:41594471 | K>R | E:32 | (6.48, -29.40, -39.40) | |
| 19:41594479 | P>S | E:35 | (7.36, -20.73, -36.68) | |
| 19:41594486 | COSM474772 | P>R | E:37 | (4.83, -16.90, -30.81) |
| 19:41594498 | P>L | E:41 | (-5.08, -20.55, -23.59) | |
| 19:41594522 | rs551458619 | L>P | E:49 | (0.07, -8.64, -29.88) |
| 19:41594537 | COSM4078407 | M>K | E:54 | (-1.61, -5.25, -34.65) |
| 19:41594543 | N>S | E:56 | (4.59, -1.80, -34.84) | |
| 19:41594546 | COSM260351 | S>F | E:57 | (3.54, -5.93, -32.98) |
| 19:41594834 | I>F | E:61 | (6.98, -11.11, -33.77) | |
| 19:41594844 | rs539865927 | R>H | E:64 | (12.14, -14.01, -31.74) |
| 19:41594847 | rs376227981 | Y>C | E:65 | (9.75, -16.42, -34.56) |
| 19:41594853 | P>R | E:67 | (9.88, -13.57, -43.06) | |
| 19:41594862 | T>I | E:70 | (2.33, -18.57, -36.71) | |
| 19:41594876 | COSM70372 | P>T | E:75 | (-9.12, -18.29, -31.28) |
| 19:41594882 | rs149916708 | R>W | E:77 | (-4.00, -21.83, -36.61) |
| 19:41594889 | V>A | E:79 | (0.04, -17.26, -41.83) | |
| 19:41594891 | rs202058359 COSM3534284 |
V>M | E:80 | (2.20, -13.48, -40.94) |
| 19:41594892 | rs144948114 | V>A | E:80 | (2.20, -13.48, -40.94) |
| 19:41594894 | rs201261248 | L>M | E:81 | (3.13, -13.07, -45.33) |
| 19:41594900 | G>R | E:83 | (7.75, -8.99, -47.37) | |
| 19:41594907 | D>V | E:85 | (10.19, -11.85, -51.34) | |
| 19:41594909 | A>T | E:86 | (6.62, -13.59, -48.99) | |
| 19:41594910 | A>V | E:86 | (6.62, -13.59, -48.99) | |
| 19:41594912 | V>I | E:87 | (3.63, -11.37, -50.28) | |
| 19:41594916 | rs138627841 | K>R | E:88 | (5.57, -11.96, -55.42) |
| 19:41594922 | A>V | E:90 | (1.96, -16.38, -52.08) | |
| 19:41594930 | rs141468200 | D>H | E:93 | (4.51, -17.58, -57.94) |
| 19:41594981 | L>V | E:110 | (-23.36, -7.04, -42.41) | |
| 19:41594994 | Y>C | E:114 | (-24.02, -14.19, -48.13) | |
| 19:41595958 | rs75703079 | A>V | E:117 | (-15.26, -9.46, -50.69) |
| 19:41595986 | rs150550130 | Q>H | E:126 | (-19.61, -16.68, -60.41) |
| 19:41595996 | rs376978363 | F>I | E:130 | (-21.62, -9.64, -63.08) |
| 19:41596002 | I>V | E:132 | (-14.98, -7.01, -63.49) | |
| 19:41596003 | I>T | E:132 | (-14.98, -7.01, -63.49) | |
| 19:41596006 | A>V | E:133 | (-18.07, -6.95, -66.69) | |
| 19:41596012 | L>Q | E:135 | (-17.63, -1.91, -63.43) | |
| 19:41596015 | rs199521387 | R>K | E:136 | (-14.66, -3.91, -68.19) |
| 19:41596029 | G>S | E:141 | (-11.36, 2.61, -68.51) | |
| 19:41596030 | G>D | E:141 | (-11.36, 2.61, -68.51) | |
| 19:41596036 | COSM1129834 | R>P | E:143 | (-13.93, 9.81, -72.73) |
| 19:41596039 | G>V | E:144 | (-16.95, 7.70, -69.89) | |
| 19:41596047 | E>K | E:147 | (-16.98, 12.38, -69.79) | |
| 19:41596050 | rs146067729 | R>S | E:148 | (-19.81, 11.63, -64.18) |
| 19:41596053 | I>F | E:149 | (-14.23, 12.11, -62.99) | |
| 19:41596059 | E>Q | E:151 | (-19.13, 16.45, -64.74) | |
| 19:41596066 | rs140014285 | A>E | E:153 | (-14.31, 18.25, -60.59) |
| 19:41596080 | rs200738334 | D>H | E:158 | (-17.49, 25.48, -58.56) |
| 19:41596082 | rs112337232 | D>E | E:158 | (-17.49, 25.48, -58.56) |
| 19:41596089 | rs536561804 | R>W | E:161 | (-14.32, 28.96, -56.62) |
| 19:41596090 | rs201711732 | R>Q | E:161 | (-14.32, 28.96, -56.62) |
| 19:41596099 | H>R | E:164 | (-15.90, 32.88, -50.57) | |
| 19:41596314 | rs531621850 | N>H | E:167 | (-10.21, 27.49, -42.32) |
| 19:41596320 | rs146392271 | D>H | E:169 | (-13.41, 19.60, -42.24) |
| 19:41596327 | T>S | E:171 | (-13.78, 14.94, -44.48) | |
| 19:41596332 | rs201180190 | F>L | E:173 | (-16.83, 19.87, -48.90) |
| 19:41596342 | R>H | E:176 | (-20.00, 15.56, -50.19) | |
| 19:41596348 | V>A | E:178 | (-15.37, 10.51, -54.53) | |
| 19:41596351 | S>F | E:179 | (-19.50, 8.82, -54.07) | |
| 19:41596356 | rs142926983 | V>I | E:181 | (-17.79, 8.49, -59.40) |
| 19:41596359 | I>F | E:182 | (-19.43, 4.59, -57.47) | |
| 19:41596371 | V>F | E:186 | (-24.42, 1.65, -58.13) | |
| 19:41596374 | F>L | E:187 | (-27.11, 4.25, -56.33) | |
| 19:41596395 | rs151080412 | E>K | E:194 | (-28.77, 19.28, -49.61) |
| 19:41596396 | rs144338039 | E>V | E:194 | (-28.77, 19.28, -49.61) |
| 19:41596399 | D>G | E:195 | (-29.65, 14.96, -49.54) | |
| 19:41596401 | K>E | E:196 | (-29.59, 15.23, -45.28) | |
| 19:41596411 | rs369105775 | L>Q | E:199 | (-23.89, 13.76, -44.44) |
| 19:41596414 | rs377610120 | S>L | E:200 | (-26.18, 9.97, -42.64) |
| 19:41596429 | M>T | E:205 | (-19.11, 4.89, -44.60) | |
| 19:41596452 | A>S | E:213 | (-8.46, 1.23, -36.53) | |
| 19:41596455 | rs113145635 | T>P | E:214 | (-9.66, 1.43, -33.05) |
| 19:41596462 | rs534420677 | T>M | E:216 | (-12.07, -1.77, -29.48) |
| 19:41596464 | G>R | E:217 | (-11.33, -3.45, -33.00) | |
| 19:41596465 | G>V | E:217 | (-11.33, -3.45, -33.00) | |
| 19:41597667 | H>Y | E:229 | (-23.08, -11.17, -27.52) | |
| 19:41597682 | Q>E | E:234 | (-18.69, -3.17, -30.19) | |
| 19:41597701 | E>A | E:240 | (-22.38, 2.64, -38.33) | |
| 19:41597715 | E>K | E:245 | (-28.37, -3.71, -45.31) | |
| 19:41597724 | I>V | E:248 | (-28.25, -0.65, -50.51) | |
| 19:41597725 | I>T | E:248 | (-28.25, -0.65, -50.51) | |
| 19:41597727 | A>T | E:249 | (-32.29, -2.41, -49.76) | |
| 19:41597746 | N>S | E:255 | (-34.40, -0.60, -59.07) | |
| 19:41597748 | Q>E | E:256 | (-37.35, -4.83, -57.43) | |
| 19:41597751 | rs8192789 | R>C | E:257 | (-41.12, -1.01, -57.27) |
| 19:41597752 | R>H | E:257 | (-41.12, -1.01, -57.27) | |
| 19:41597763 | rs149101733 | P>A | E:261 | (-34.94, -5.68, -69.09) |
| 19:41597768 | N>K | E:262 | (-34.01, -3.98, -73.50) | |
| 19:41597775 | rs143140637 | R>W | E:265 | (-31.72, 2.25, -64.46) |
| 19:41597776 | rs148239931 | R>Q | E:265 | (-31.72, 2.25, -64.46) |
| 19:41597787 | D>N | E:269 | (-30.70, -2.97, -63.53) | |
| 19:41597788 | D>G | E:269 | (-30.70, -2.97, -63.53) | |
| 19:41597791 | S>Y | E:270 | (-27.24, -5.78, -64.70) | |
| 19:41597802 | rs145048388 | R>C | E:274 | (-26.74, -13.08, -64.72) |
| 19:41597803 | R>H | E:274 | (-26.74, -13.08, -64.72) | |
| 19:41597805 | M>V | E:275 | (-31.35, -12.38, -60.24) | |
| 19:41597808 | Q>K | E:276 | (-34.46, -12.44, -63.96) | |
| 19:41599538 | rs545108109 | E>K | E:279 | (-34.94, -18.14, -61.67) |
| 19:41599542 | K>R | E:280 | (-33.47, -22.56, -65.70) | |
| 19:41599556 | rs560316919 | E>Q | E:285 | (-23.89, -17.64, -56.04) |
| 19:41599577 | rs200112291 | V>M | E:292 | (-27.52, -6.09, -51.11) |
| 19:41599578 | V>A | E:292 | (-27.52, -6.09, -51.11) | |
| 19:41599594 | rs143728697 | N>K | E:297 | (-18.81, -4.49, -51.11) |
| 19:41599602 | F>S | E:300 | (-17.79, 1.30, -47.71) | |
| 19:41599608 | rs201712585 COSM376699 |
G>D | E:302 | (-15.37, 3.96, -53.47) |
| 19:41599617 | rs544596685 COSM1712326 |
T>I | E:305 | (-10.37, 4.47, -50.08) |
| 19:41599619 | rs368110735 | V>M | E:306 | (-10.24, 7.73, -52.92) |
| 19:41599622 | S>C | E:307 | (-11.81, 9.98, -49.31) | |
| 19:41599624 | rs562887133 | S>R | E:307 | (-11.81, 9.98, -49.31) |
| 19:41599632 | L>P | E:310 | (-7.25, 12.87, -51.32) | |
| 19:41599635 | COSM996918 | R>H | E:311 | (-8.48, 12.77, -44.81) |
| 19:41599640 | rs566665410 COSM189512 |
G>S | E:313 | (-1.96, 14.27, -48.72) |
| 19:41599641 | G>A | E:313 | (-1.96, 14.27, -48.72) | |
| 19:41599649 | rs527791340 | L>M | E:316 | (2.00, 14.90, -46.26) |
| 19:41599655 | M>V | E:318 | (0.06, 21.32, -45.78) | |
| 19:41599659 | rs368556056 | K>R | E:319 | (4.91, 18.65, -42.92) |
| 19:41599665 | rs3885816 | P>L | E:321 | (5.88, 23.14, -48.89) |
| 19:41599670 | V>M | E:323 | (6.55, 18.63, -52.62) | |
| 19:41599674 | rs139418060 | E>G | E:324 | (2.37, 22.28, -52.67) |
| 19:41599676 | rs200396346 | A>P | E:325 | (5.56, 23.77, -55.47) |
| 19:41600156 | V>A | E:327 | (3.22, 20.03, -58.11) | |
| 19:41600162 | E>A | E:329 | (6.95, 23.40, -62.63) | |
| 19:41600168 | I>T | E:331 | (-0.23, 21.88, -63.24) | |
| 19:41600181 | rs367546841 | I>M | E:335 | (-2.63, 21.20, -68.11) |
| 19:41600182 | rs200636194 | G>S | E:336 | (-2.57, 24.97, -67.31) |
| 19:41600189 | N>I | E:338 | (-7.17, 28.04, -69.60) | |
| 19:41600191 | rs138941528 | R>W | E:339 | (-7.10, 22.11, -70.43) |
| 19:41600192 | rs377347872 | R>Q | E:339 | (-7.10, 22.11, -70.43) |
| 19:41600212 | rs149632806 | R>W | E:346 | (-0.59, 9.39, -66.98) |
| 19:41600213 | R>Q | E:346 | (-0.59, 9.39, -66.98) | |
| 19:41600227 | Y>H | E:351 | (7.08, 15.61, -59.12) | |
| 19:41600231 | T>I | E:352 | (2.62, 14.77, -60.05) | |
| 19:41600248 | E>K | E:358 | (5.28, 8.62, -51.59) | |
| 19:41600251 | I>V | E:359 | (0.35, 10.20, -50.93) | |
| 19:41600254 | rs116368403 | Q>K | E:360 | (-0.97, 5.51, -52.54) |
| 19:41600269 | M>V | E:365 | (-5.27, 2.49, -46.92) | |
| 19:41600270 | M>T | E:365 | (-5.27, 2.49, -46.92) | |
| 19:41600271 | M>I | E:365 | (-5.27, 2.49, -46.92) | |
| 19:41600272 | L>I | E:366 | (-5.47, -1.53, -46.28) | |
| 19:41600291 | H>P | E:372 | (-6.01, -13.65, -48.60) | |
| 19:41600296 | rs373911271 | V>F | E:374 | (-5.92, -21.77, -47.71) |
| 19:41600299 | rs201493974 | N>D | E:375 | (-8.61, -22.92, -51.16) |
| 19:41600305 | D>N | E:377 | (-3.99, -29.03, -48.07) | |
| 19:41600311 | rs115698903 | K>Q | E:379 | (4.29, -27.75, -49.72) |
| 19:41600314 | F>I | E:380 | (4.98, -21.13, -48.44) | |
| 19:41600317 | rs147797134 | R>W | E:381 | (9.29, -19.95, -47.97) |
| 19:41600318 | R>Q | E:381 | (9.29, -19.95, -47.97) | |
| 19:41600865 | G>D | E:388 | (-8.38, -22.72, -43.46) | |
| 19:41600867 | rs377513807 | T>A | E:389 | (-5.06, -21.53, -42.72) |
| 19:41600868 | T>I | E:389 | (-5.06, -21.53, -42.72) | |
| 19:41600877 | rs9916987 | F>Y | E:392 | (-2.90, -11.52, -41.86) |
| 19:41600894 | rs150922932 | V>M | E:398 | (5.84, -4.56, -49.09) |
| 19:41600903 | COSM1712327 | D>H | E:401 | (11.13, -3.61, -48.32) |
| 19:41600924 | P>S | E:408 | (11.43, 3.89, -45.74) | |
| 19:41600925 | rs202218822 | P>L | E:408 | (11.43, 3.89, -45.74) |
| 19:41600928 | rs577832324 | R>Q | E:409 | (10.87, 5.32, -41.10) |
| 19:41600930 | D>Y | E:410 | (10.87, 9.52, -44.74) | |
| 19:41600931 | rs199846503 | D>A | E:410 | (10.87, 9.52, -44.74) |
| 19:41600935 | F>L | E:411 | (6.28, 12.52, -48.27) | |
| 19:41600936 | N>H | E:412 | (11.11, 11.24, -50.61) | |
| 19:41600954 | D>N | E:418 | (14.96, 7.95, -62.56) | |
| 19:41600958 | rs538929383 | K>T | E:419 | (19.69, 9.53, -60.66) |
| 19:41600993 | rs187762561 | P>S | E:431 | (-1.40, -0.41, -52.64) |
| 19:41601005 | COSM3534296 | G>R | E:435 | (-3.35, -11.69, -57.53) |
| 19:41601670 | rs559504306 COSM1136198 |
R>W | E:437 | (-9.59, -12.33, -54.14) |
| 19:41601677 | C>Y | E:439 | (-8.39, -4.20, -56.55) | |
| 19:41601694 | A>T | E:445 | (-8.49, 4.63, -58.34) | |
| 19:41601706 | L>V | E:449 | (-6.30, 9.59, -56.88) | |
| 19:41601710 | rs201481142 | F>S | E:450 | (-4.17, 12.58, -62.44) |
| 19:41601719 | rs72547590 | F>Y | E:453 | (-4.27, 15.13, -56.06) |
| 19:41601727 | I>V | E:456 | (-7.91, 20.34, -56.33) | |
| 19:41601739 | F>L | E:460 | (-8.15, 26.01, -55.14) | |
| 19:41601740 | F>C | E:460 | (-8.15, 26.01, -55.14) | |
| 19:41601742 | rs563123035 | R>C | E:461 | (-2.59, 28.50, -52.58) |
| 19:41601761 | S>L | E:467 | (3.86, 26.22, -39.50) | |
| 19:41601770 | D>V | E:470 | (3.90, 22.88, -36.02) | |
| 19:41601775 | COSM4078414 | D>N | E:472 | (1.22, 14.99, -36.47) |
| 19:41601778 | V>L | E:473 | (1.83, 13.23, -40.39) | |
| 19:41601784 | rs551851716 | P>A | E:475 | (-1.14, 7.95, -37.79) |
| 19:41601785 | P>L | E:475 | (-1.14, 7.95, -37.79) | |
| 19:41601793 | V>M | E:478 | (-2.91, 1.87, -36.97) | |
| 19:41601794 | V>A | E:478 | (-2.91, 1.87, -36.97) | |
| 19:41601797 | G>D | E:479 | (-5.32, -1.12, -38.27) | |
| 19:41601803 | rs368131195 | A>G | E:481 | (-7.01, 1.22, -41.37) |
| 19:41601811 | P>S | E:484 | (-6.05, 10.46, -41.28) | |
| 19:41601841 | rs138870349 | R>C | E:494 | (-2.21, 28.94, -58.63) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:41594891 | COSM3534284 | V>M | E:80 | (2.20, -13.48, -40.94) |
| 19:41594928 | COSM1750913 | V>E | E:92 | (1.90, -14.30, -57.76) |
| 19:41594955 | COSM1393927 | R>Q | E:101 | (-11.02, -13.02, -48.45) |
| 19:41595958 | COSM3823154 | A>V | E:117 | (-15.26, -9.46, -50.69) |
| 19:41595978 | COSM3712930 | A>S | E:124 | (-16.11, -15.27, -55.45) |
| 19:41595994 | COSM1202845 | R>H | E:129 | (-16.27, -13.78, -64.74) |
| 19:41596018 | COSM3707168 | G>D | E:137 | (-20.11, -1.35, -69.38) |
| 19:41596072 | COSM3707169 | F>Y | E:155 | (-20.49, 20.66, -60.13) |
| 19:41597706 | COSM1612291 | Q>K | E:242 | (-28.15, -2.70, -40.21) |
| 19:41597751 | COSM232121 | R>C | E:257 | (-41.12, -1.01, -57.27) |
| 19:41597755 | COSM1249576 | T>M | E:258 | (-38.77, 0.90, -62.29) |
| 19:41597775 | COSM3404259 | R>W | E:265 | (-31.72, 2.25, -64.46) |
| 19:41599635 | COSM996918 | R>H | E:311 | (-8.48, 12.77, -44.81) |
| 19:41600317 | COSM1721778 | R>W | E:381 | (9.29, -19.95, -47.97) |
| 19:41600320 | COSM1686286 | D>N | E:382 | (10.11, -25.76, -45.90) |
| 19:41600879 | COSM3226599 | P>S | E:393 | (-0.80, -10.22, -46.53) |
| 19:41600885 | COSM439573 | L>M | E:395 | (0.45, -4.94, -48.07) |
| 19:41601815 | COSM36742 | R>Q | E:485 | (-3.81, 13.08, -36.56) |