General Structure Information
| PDB ID | 1pq2 |
| HGNC Gene Label(s) | CYP2C8 |
| Structure Name | crystal structure of human drug metabolizing cytochrome p450 2c8 |
| Resolution | 2.7Å |
| Reference | AUTH G.A.SCHOCH,J.K.YANO,M.R.WESTER,K.J.GRIFFIN,AUTH 2 C.D.STOUT,E.F.JOHNSONTITL STRUCTURE OF HUMAN MICROSOMAL CYTOCHROME P450 2C8.TITL 2 EVIDENCE FOR A PERIPHERAL FATTY ACID BINDING SITEREF J.BIOL.CHEM. V. 279 9497 2004REFN ISSN 0021-9258PMID 14676196DOI 10.1074/JBC.M312516200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 463 |
| Number Of SNVs | 136 |
| Number Of Permutations | 21152 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.019 |
| p-value | 0.608 |
COSMIC
| Number Of Residues | 463 |
| Number Of SNVs | 17 |
| Number Of Permutations | 4477 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.074 |
| p-value | 0.883 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 136 |
| Number Of COSMIC SNVs | 16 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | -0.089 |
| p-value | 0.376 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:96829072 | COSM1686136 | P>T | A:30 | (-13.51, -19.56, 8.08) |
| 10:96829063 | P>S | A:33 | (-5.43, -14.63, 5.03) | |
| 10:96829056 | P>L | A:35 | (-6.28, -9.00, 7.23) | |
| 10:96829028 | Q>H | A:44 | (-2.53, -10.58, -0.01) | |
| 10:96829029 | Q>P | A:44 | (-2.53, -10.58, -0.01) | |
| 10:96829030 | Q>K | A:44 | (-2.53, -10.58, -0.01) | |
| 10:96829027 | I>V | A:45 | (-5.57, -10.68, -4.18) | |
| 10:96829015 | D>N | A:49 | (-5.73, -14.83, -12.26) | |
| 10:96829005 | K>R | A:52 | (-3.33, -18.50, -9.55) | |
| 10:96829002 | S>Y | A:53 | (-4.92, -16.30, -5.56) | |
| 10:96828993 | rs113939225 | N>S | A:56 | (-2.34, -20.38, -4.16) |
| 10:96827446 | F>L | A:57 | (-5.00, -18.27, -0.35) | |
| 10:96827435 | Y>C | A:61 | (-5.21, -20.78, 4.67) | |
| 10:96827430 | P>A | A:63 | (-11.21, -26.55, 1.71) | |
| 10:96827426 | V>G | A:64 | (-13.27, -23.56, 3.55) | |
| 10:96827418 | rs376132046 | V>M | A:67 | (-10.91, -13.43, 1.90) |
| 10:96827414 | Y>C | A:68 | (-11.47, -10.12, 5.35) | |
| 10:96827384 | H>R | A:78 | (-11.01, -25.13, -3.68) | |
| 10:96827373 | rs17851796 | A>T | A:82 | (-17.29, -27.84, -0.75) |
| 10:96827363 | E>G | A:85 | (-21.12, -29.37, 1.90) | |
| 10:96827349 | rs372299895 | N>D | A:90 | (-26.16, -26.64, 3.18) |
| 10:96827324 | rs578254206 | G>V | A:98 | (-24.98, -10.90, -4.53) |
| 10:96827313 | I>V | A:102 | (-22.58, -1.14, -8.24) | |
| 10:96827303 | COSM921757 COSM137991 |
R>I | A:105 | (-26.44, 2.47, -7.10) |
| 10:96827105 | S>F | A:114 | (-30.73, -9.00, -8.03) | |
| 10:96827102 | S>I | A:115 | (-33.57, -10.66, -6.34) | |
| 10:96827099 | N>I | A:116 | (-33.11, -11.77, -2.46) | |
| 10:96827075 | rs369591911 | R>Q | A:124 | (-35.82, -18.98, -10.51) |
| 10:96827076 | rs377386087 COSM3868131 COSM3868132 COSM3868133 |
R>W | A:124 | (-35.82, -18.98, -10.51) |
| 10:96827072 | R>H | A:125 | (-42.53, -21.36, -9.41) | |
| 10:96827057 | rs139650638 | T>I | A:130 | (-42.38, -18.97, -19.16) |
| 10:96827051 | COSM1970947 COSM1970948 COSM3397322 |
R>Q | A:132 | (-40.12, -25.67, -19.60) |
| 10:96827030 | rs11572080 | R>K | A:139 | (-42.48, -19.50, -32.12) |
| 10:96827025 | I>V | A:141 | (-38.05, -21.48, -27.15) | |
| 10:96827022 | E>K | A:142 | (-36.52, -25.77, -30.74) | |
| 10:96827015 | R>H | A:144 | (-38.89, -18.33, -30.87) | |
| 10:96827005 | E>D | A:147 | (-35.71, -18.02, -37.20) | |
| 10:96826985 | E>A | A:154 | (-28.08, -15.28, -43.66) | |
| 10:96826974 | rs201561213 | K>E | A:158 | (-23.69, -12.14, -46.37) |
| 10:96824715 | S>A | A:162 | (-13.22, -13.73, -45.71) | |
| 10:96824711 | P>L | A:163 | (-10.96, -13.09, -43.51) | |
| 10:96824708 | C>Y | A:164 | (-13.59, -12.78, -39.76) | |
| 10:96824702 | rs576554998 | P>L | A:166 | (-16.44, -13.88, -35.03) |
| 10:96824699 | T>I | A:167 | (-17.30, -10.97, -31.89) | |
| 10:96824693 | I>T | A:169 | (-22.12, -12.38, -36.26) | |
| 10:96824694 | I>V | A:169 | (-22.12, -12.38, -36.26) | |
| 10:96824690 | L>P | A:170 | (-21.35, -15.24, -32.95) | |
| 10:96824688 | rs142886225 | G>S | A:171 | (-23.75, -11.99, -30.81) |
| 10:96824682 | A>T | A:173 | (-27.76, -14.52, -32.05) | |
| 10:96824679 | P>S | A:174 | (-27.52, -14.78, -28.78) | |
| 10:96824672 | N>T | A:176 | (-32.25, -11.79, -31.73) | |
| 10:96824669 | V>G | A:177 | (-32.74, -15.53, -28.75) | |
| 10:96824667 | I>F | A:178 | (-33.33, -13.03, -25.47) | |
| 10:96824657 | V>A | A:181 | (-38.07, -14.96, -25.87) | |
| 10:96824658 | rs41286886 | V>I | A:181 | (-38.07, -14.96, -25.87) |
| 10:96824642 | rs543793530 COSM921755 COSM171322 |
R>Q | A:186 | (-35.52, -11.87, -35.93) |
| 10:96824636 | D>G | A:188 | (-33.13, -7.22, -39.32) | |
| 10:96824622 | N>H | A:193 | (-34.15, -0.14, -32.57) | |
| 10:96824618 | rs201899315 | F>Y | A:194 | (-30.55, -5.69, -32.84) |
| 10:96824597 | rs201045618 | F>Y | A:201 | (-27.58, -4.89, -22.93) |
| 10:96824594 | N>S | A:202 | (-21.35, -5.09, -25.27) | |
| 10:96824590 | E>D | A:203 | (-21.23, -0.19, -23.45) | |
| 10:96818260 | N>K | A:217 | (-18.29, -2.86, -5.01) | |
| 10:96818237 | C>F | A:225 | (-12.51, 8.42, -9.88) | |
| 10:96818231 | P>L | A:227 | (-17.13, 10.29, -13.67) | |
| 10:96818221 | H>Q | A:230 | (-21.41, 6.59, -12.68) | |
| 10:96818222 | H>P | A:230 | (-21.41, 6.59, -12.68) | |
| 10:96818208 | rs569886323 | K>E | A:235 | (-26.42, 7.73, -19.45) |
| 10:96818199 | rs188934928 | A>P | A:238 | (-32.18, 4.37, -18.61) |
| 10:96818195 | rs200358471 | L>P | A:239 | (-32.09, 4.67, -22.65) |
| 10:96818196 | L>F | A:239 | (-32.09, 4.67, -22.65) | |
| 10:96818192 | T>I | A:240 | (-32.64, -0.26, -21.54) | |
| 10:96818189 | COSM1702822 COSM3808069 COSM3808070 |
R>Q | A:241 | (-35.45, 0.22, -16.62) |
| 10:96818186 | S>N | A:242 | (-37.31, 3.57, -21.09) | |
| 10:96818181 | rs11572102 | I>V | A:244 | (-38.22, -2.47, -21.71) |
| 10:96818171 | K>R | A:247 | (-41.63, -2.75, -26.67) | |
| 10:96818158 | H>Q | A:251 | (-46.64, -6.24, -25.95) | |
| 10:96818159 | rs150260880 | H>P | A:251 | (-46.64, -6.24, -25.95) |
| 10:96818130 | rs527793637 | R>W | A:261 | (-47.98, -12.12, -28.19) |
| 10:96818126 | D>G | A:262 | (-44.29, -12.96, -25.43) | |
| 10:96818118 | rs551515028 COSM167789 COSM3442057 COSM3442058 |
D>N | A:265 | (-48.03, -11.45, -23.19) |
| 10:96818114 | rs377675927 | C>F | A:266 | (-46.94, -14.43, -19.75) |
| 10:96818106 | rs11572103 | I>F | A:269 | (-51.63, -12.88, -18.04) |
| 10:96818095 | rs373613215 | E>D | A:272 | (-55.09, -9.11, -14.55) |
| 10:96805707 | rs140599093 | E>G | A:274 | (-52.01, -10.50, -8.71) |
| 10:96805669 | L>V | A:287 | (-41.88, -6.92, -16.45) | |
| 10:96805666 | V>F | A:288 | (-38.67, -4.04, -16.94) | |
| 10:96805660 | T>A | A:290 | (-37.24, -9.81, -15.43) | |
| 10:96805632 | T>K | A:299 | (-26.47, -12.16, -24.36) | |
| 10:96805611 | L>R | A:306 | (-20.88, -19.56, -29.47) | |
| 10:96805609 | R>G | A:307 | (-16.17, -15.64, -28.85) | |
| 10:96805597 | L>V | A:311 | (-11.06, -20.90, -30.97) | |
| 10:96805594 | L>I | A:312 | (-11.70, -24.87, -29.23) | |
| 10:96805581 | H>R | A:316 | (-8.93, -28.89, -31.71) | |
| 10:96805579 | P>S | A:317 | (-9.40, -30.13, -36.87) | |
| 10:96805573 | rs537326361 | V>L | A:319 | (-12.98, -32.54, -33.06) |
| 10:96802816 | I>T | A:327 | (-24.14, -33.38, -38.34) | |
| 10:96802807 | V>A | A:330 | (-28.17, -38.02, -37.21) | |
| 10:96802802 | G>C | A:332 | (-27.83, -34.21, -42.71) | |
| 10:96802793 | rs142361756 | R>G | A:335 | (-32.99, -32.34, -40.32) |
| 10:96802790 | S>C | A:336 | (-32.42, -28.04, -39.42) | |
| 10:96802768 | rs148442781 | S>I | A:343 | (-29.90, -38.29, -28.02) |
| 10:96802765 | H>R | A:344 | (-29.58, -40.19, -31.40) | |
| 10:96802760 | P>S | A:346 | (-22.67, -38.81, -28.50) | |
| 10:96802744 | V>A | A:351 | (-17.75, -30.97, -28.00) | |
| 10:96802736 | rs199691080 | E>K | A:354 | (-14.58, -30.15, -22.92) |
| 10:96802728 | Q>H | A:356 | (-19.71, -25.13, -21.26) | |
| 10:96802715 | rs45438799 | L>F | A:361 | (-17.78, -18.13, -18.68) |
| 10:96802708 | P>H | A:363 | (-14.29, -18.51, -12.93) | |
| 10:96802709 | P>T | A:363 | (-14.29, -18.51, -12.93) | |
| 10:96802703 | rs77147096 | G>S | A:365 | (-18.83, -17.31, -9.91) |
| 10:96802682 | T>A | A:372 | (-29.44, -17.31, 8.15) | |
| 10:96802652 | rs375271607 | P>S | A:382 | (-22.52, -14.47, 9.36) |
| 10:96802648 | K>R | A:383 | (-28.07, -12.86, 7.81) | |
| 10:96798795 | rs143386810 | G>S | A:384 | (-24.73, -11.96, 4.57) |
| 10:96798791 | rs553009747 | T>I | A:385 | (-21.55, -13.53, 4.37) |
| 10:96798779 | A>V | A:389 | (-18.22, -20.75, -5.48) | |
| 10:96798776 | rs72558194 | L>S | A:390 | (-14.34, -21.51, -6.72) |
| 10:96798774 | rs74454169 | L>V | A:391 | (-17.47, -23.00, -10.56) |
| 10:96798767 | rs201421851 | S>C | A:393 | (-12.46, -26.11, -8.63) |
| 10:96798758 | rs201301235 | H>P | A:396 | (-10.28, -27.03, -14.29) |
| 10:96798756 | rs186285658 | D>N | A:397 | (-10.99, -32.28, -10.57) |
| 10:96798749 | rs10509681 | K>R | A:399 | (-8.07, -37.27, -10.34) |
| 10:96798741 | COSM1702818 COSM3442030 |
P>T | A:402 | (-7.80, -36.55, -16.62) |
| 10:96798737 | N>S | A:403 | (-4.78, -34.05, -18.18) | |
| 10:96798704 | D>G | A:414 | (-17.72, -44.28, -22.51) | |
| 10:96798699 | rs374605743 | N>H | A:416 | (-17.93, -47.86, -25.63) |
| 10:96798695 | rs141209951 | G>V | A:417 | (-18.57, -43.37, -26.99) |
| 10:96798675 | Y>D | A:424 | (-16.93, -33.26, -10.42) | |
| 10:96798672 | rs371330493 | F>L | A:425 | (-21.02, -29.76, -16.39) |
| 10:96798667 | M>I | A:426 | (-20.69, -27.18, -11.62) | |
| 10:96798668 | M>T | A:426 | (-20.69, -27.18, -11.62) | |
| 10:96798669 | rs148348784 | M>V | A:426 | (-20.69, -27.18, -11.62) |
| 10:96798665 | P>H | A:427 | (-20.96, -24.66, -16.03) | |
| 10:96798666 | P>S | A:427 | (-20.96, -24.66, -16.03) | |
| 10:96797060 | COSM198936 COSM3442026 |
R>Q | A:433 | (-29.77, -18.21, -7.02) |
| 10:96797033 | rs138495387 | R>H | A:442 | (-27.57, -27.70, -22.59) |
| 10:96797034 | rs143038562 | R>C | A:442 | (-27.57, -27.70, -22.59) |
| 10:96797029 | M>I | A:443 | (-31.27, -24.87, -27.09) | |
| 10:96797031 | rs369600584 | M>L | A:443 | (-31.27, -24.87, -27.09) |
| 10:96796996 | Q>H | A:454 | (-25.09, -28.54, -41.36) | |
| 10:96796962 | N>Y | A:466 | (0.64, -19.57, -34.76) | |
| 10:96796955 | COSM1350009 | N>S | A:468 | (-2.99, -20.12, -27.79) |
| 10:96796952 | T>N | A:469 | (-6.70, -22.00, -26.71) | |
| 10:96796941 | T>A | A:473 | (-9.16, -14.10, -16.45) | |
| 10:96796928 | V>A | A:477 | (-16.22, -13.13, -17.50) | |
| 10:96796917 | rs376016142 | P>S | A:481 | (-8.47, -15.28, -27.49) |
| 10:96796913 | S>L | A:482 | (-8.59, -12.19, -30.63) | |
| 10:96796911 | Y>D | A:483 | (-11.05, -16.03, -33.13) | |
| 10:96796892 | rs140481138 | P>L | A:489 | (-18.82, -22.85, -47.74) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:96829072 | COSM1686136 | P>S | A:30 | (-13.51, -19.56, 8.08) |
| 10:96827404 | COSM3442098 | M>I | A:71 | (-13.81, -3.61, 5.98) |
| 10:96827345 | COSM3442097 | G>E | A:91 | (-28.77, -24.53, -0.10) |
| 10:96827303 | COSM137991 | R>K | A:105 | (-26.44, 2.47, -7.10) |
| 10:96827096 | COSM3442096 | G>E | A:117 | (-36.63, -14.03, -1.56) |
| 10:96827030 | COSM5019897 | R>K | A:139 | (-42.48, -19.50, -32.12) |
| 10:96826965 | COSM3442085 | A>T | A:161 | (-14.68, -16.94, -47.11) |
| 10:96824703 | COSM3442079 | P>S | A:166 | (-16.44, -13.88, -35.03) |
| 10:96824642 | COSM4948431 | R>Q | A:186 | (-35.52, -11.87, -35.93) |
| 10:96818189 | COSM1702822 | R>Q | A:241 | (-35.45, 0.22, -16.62) |
| 10:96818161 | COSM1702821 | E>D | A:250 | (-46.15, -2.01, -27.95) |
| 10:96818163 | COSM3442063 | E>K | A:250 | (-46.15, -2.01, -27.95) |
| 10:96818119 | COSM4987350 | I>M | A:264 | (-44.02, -9.46, -22.06) |
| 10:96818118 | COSM3442057 | D>N | A:265 | (-48.03, -11.45, -23.19) |
| 10:96805708 | COSM3442056 | E>K | A:274 | (-52.01, -10.50, -8.71) |
| 10:96805650 | COSM3665980 | D>V | A:293 | (-32.15, -9.77, -15.74) |
| 10:96805651 | COSM3442052 | D>N | A:293 | (-32.15, -9.77, -15.74) |
| 10:96798749 | COSM5003865 | K>R | A:399 | (-8.07, -37.27, -10.34) |
| 10:96798740 | COSM3442028 | P>L | A:402 | (-7.80, -36.55, -16.62) |
| 10:96798741 | COSM3442030 | P>S | A:402 | (-7.80, -36.55, -16.62) |
| 10:96798654 | COSM1702817 | G>R | A:431 | (-28.66, -25.62, -6.99) |
| 10:96797060 | COSM198936 | R>Q | A:433 | (-29.77, -18.21, -7.02) |
| 10:96796979 | COSM1202855 | S>F | A:460 | (-6.90, -20.31, -40.23) |