General Structure Information
| PDB ID | 3qfc |
| HGNC Gene Label(s) | POR |
| Structure Name | crystal structure of human nadph-cytochrome p450 (v492e mutant) |
| Resolution | 1.8Å |
| Reference | AUTH C.XIA,S.P.PANDA,C.C.MAROHNIC,P.MARTASEK,B.S.MASTERS,J.J.KIMTITL STRUCTURAL BASIS FOR HUMAN NADPH-CYTOCHROME P450TITL 2 OXIDOREDUCTASE DEFICIENCY.REF PROC.NATL.ACAD.SCI.USA V. 108 13486 2011REFN ISSN 0027-8424PMID 21808038DOI 10.1073/PNAS.1106632108 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 607 |
| Number Of SNVs | 189 |
| Number Of Permutations | 64999 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.006 |
| p-value | 0.511 |
ClinVar
| Number Of Residues | 607 |
| Number Of SNVs | 8 |
| Number Of Permutations | 4102 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.714 |
| p-value | 0.004 |
COSMIC
| Number Of Residues | 607 |
| Number Of SNVs | 3 |
| Number Of Permutations | 16 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.333 |
| p-value | 0.346 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 189 |
| Number Of ClinVar SNVs | 8 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.456 |
| p-value | 0.005 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 189 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.274 |
| p-value | 0.211 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:75601751 | S>N | A:70 | (-35.15, -27.99, -2.04) | |
| 7:75601756 | F>L | A:72 | (-31.70, -25.60, -8.49) | |
| 7:75601768 | M>V | A:76 | (-36.21, -23.65, -12.61) | |
| 7:75601778 | T>M | A:79 | (-41.36, -20.66, -11.82) | |
| 7:75608778 | I>V | A:83 | (-31.84, -19.13, -17.20) | |
| 7:75608781 | I>V | A:84 | (-30.25, -20.49, -12.50) | |
| 7:75608782 | I>T | A:84 | (-30.25, -20.49, -12.50) | |
| 7:75608793 | G>S | A:88 | (-21.12, -14.70, -5.12) | |
| 7:75608800 | Q>P | A:90 | (-19.01, -10.16, 1.18) | |
| 7:75608803 | T>M | A:91 | (-20.46, -6.29, -1.02) | |
| 7:75608809 | rs72552770 | T>I | A:93 | (-21.51, -6.54, -6.90) |
| 7:75608815 | E>G | A:95 | (-27.17, -10.04, -5.66) | |
| 7:75608819 | COSM3882428 | E>D | A:96 | (-26.22, -5.68, -9.46) |
| 7:75608835 | S>P | A:102 | (-32.24, -12.79, -14.84) | |
| 7:75608844 | A>T | A:105 | (-33.93, -13.54, -20.52) | |
| 7:75608845 | A>V | A:105 | (-33.93, -13.54, -20.52) | |
| 7:75608848 | H>R | A:106 | (-38.38, -11.21, -21.75) | |
| 7:75608850 | R>C | A:107 | (-33.33, -9.09, -24.04) | |
| 7:75608851 | R>H | A:107 | (-33.33, -9.09, -24.04) | |
| 7:75608856 | G>R | A:109 | (-37.72, -16.00, -24.41) | |
| 7:75608869 | M>T | A:113 | (-33.97, -17.65, -11.18) | |
| 7:75608875 | COSM1623099 CM051195 |
A>V | A:115 | (-29.72, -17.51, -6.74) |
| 7:75608894 | D>E | A:121 | (-27.83, -28.93, -3.18) | |
| 7:75608895 | L>V | A:122 | (-25.28, -26.80, -6.36) | |
| 7:75609670 | S>N | A:127 | (-31.32, -32.41, -12.66) | |
| 7:75609690 | A>T | A:134 | (-30.94, -25.38, -19.57) | |
| 7:75609703 | F>C | A:138 | (-22.22, -20.11, -11.80) | |
| 7:75609720 | G>S | A:144 | (-9.55, -14.36, 0.78) | |
| 7:75609740 | D>E | A:150 | (-19.23, -16.70, 3.44) | |
| 7:75609753 | F>L | A:155 | (-20.60, -24.46, -5.27) | |
| 7:75609757 | Y>C | A:156 | (-14.54, -24.30, -2.78) | |
| 7:75609759 | D>N | A:157 | (-16.80, -27.33, 0.17) | |
| 7:75609780 | V>M | A:164 | (-20.98, -35.68, -10.55) | |
| 7:75609784 | D>A | A:165 | (-21.63, -36.94, -15.08) | |
| 7:75609804 | rs150949148 | A>T | A:172 | (-21.39, -19.64, -17.54) |
| 7:75609805 | A>V | A:172 | (-21.39, -19.64, -17.54) | |
| 7:75610372 | G>S | A:175 | (-15.85, -12.92, -12.45) | |
| 7:75610378 | G>R | A:177 | (-12.20, -9.01, -9.05) | |
| 7:75610403 | N>S | A:185 | (-11.02, -13.93, -10.54) | |
| 7:75610406 | A>D | A:186 | (-9.93, -17.78, -7.96) | |
| 7:75610418 | Y>C | A:190 | (-12.44, -24.51, -8.48) | |
| 7:75610425 | D>E | A:192 | (-14.73, -22.54, -15.55) | |
| 7:75610426 | K>E | A:193 | (-11.13, -25.95, -13.49) | |
| 7:75610430 | COSM1452087 COSM1452088 |
R>Q | A:194 | (-14.29, -29.32, -10.81) |
| 7:75610456 | I>V | A:203 | (-22.16, -21.79, -23.53) | |
| 7:75610480 | rs72557914 | D>N | A:211 | (-12.72, -3.38, -9.00) |
| 7:75610483 | D>N | A:212 | (-7.81, -2.03, -10.43) | |
| 7:75610845 | D>N | A:218 | (-15.10, -5.94, -17.50) | |
| 7:75610859 | W>C | A:222 | (-19.64, -12.27, -19.83) | |
| 7:75610876 | rs17853284 | P>L | A:228 | (-24.23, -13.04, -29.03) |
| 7:75610888 | E>G | A:232 | (-25.25, -19.40, -32.39) | |
| 7:75610899 | V>L | A:236 | (-32.48, -17.81, -29.46) | |
| 7:75610912 | G>D | A:240 | (-36.14, -5.22, -28.66) | |
| 7:75610914 | E>K | A:241 | (-38.03, -4.59, -25.89) | |
| 7:75610923 | S>C | A:244 | (-38.09, -1.59, -19.04) | |
| 7:75611547 | R>H | A:246 | (-40.69, -0.78, -11.66) | |
| 7:75611555 | E>Q | A:249 | (-45.83, -2.87, -6.63) | |
| 7:75611561 | V>M | A:251 | (-47.46, 0.56, -1.32) | |
| 7:75611573 | rs41299514 | D>N | A:255 | (-52.86, 4.71, 8.64) |
| 7:75611583 | A>V | A:258 | (-44.54, 4.14, 14.02) | |
| 7:75611597 | M>V | A:263 | (-36.18, 4.00, 11.47) | |
| 7:75611612 | R>W | A:268 | (-35.38, -9.18, 13.51) | |
| 7:75611613 | R>Q | A:268 | (-35.38, -9.18, 13.51) | |
| 7:75611615 | L>V | A:269 | (-38.56, -4.36, 13.20) | |
| 7:75611619 | K>R | A:270 | (-37.55, -2.33, 16.53) | |
| 7:75611622 | S>N | A:271 | (-32.59, -4.86, 15.83) | |
| 7:75611627 | E>K | A:273 | (-34.80, -0.31, 19.40) | |
| 7:75611634 | Q>R | A:275 | (-29.05, -4.95, 20.42) | |
| 7:75611640 | P>L | A:277 | (-27.08, -11.90, 21.07) | |
| 7:75612842 | F>V | A:279 | (-24.55, -9.03, 17.92) | |
| 7:75612847 | D>E | A:280 | (-24.24, -10.79, 12.42) | |
| 7:75612856 | N>K | A:283 | (-27.70, -8.46, 14.30) | |
| 7:75612857 | rs72557937 | P>T | A:284 | (-25.66, -5.15, 13.52) |
| 7:75612858 | rs72557938 | P>L | A:284 | (-25.66, -5.15, 13.52) |
| 7:75612866 | rs121912974 | A>P | A:287 | (-20.87, 0.53, 19.24) |
| 7:75612884 | R>W | A:293 | (-6.90, 9.91, 18.99) | |
| 7:75612885 | R>Q | A:293 | (-6.90, 9.91, 18.99) | |
| 7:75612905 | rs11540674 | E>K | A:300 | (-3.38, 18.08, 6.16) |
| 7:75612908 | R>C | A:301 | (-4.12, 13.88, 5.22) | |
| 7:75612909 | R>H | A:301 | (-4.12, 13.88, 5.22) | |
| 7:75612913 | H>Q | A:302 | (-8.91, 13.71, 9.96) | |
| 7:75612914 | L>F | A:303 | (-5.41, 10.77, 9.94) | |
| 7:75612921 | H>R | A:305 | (-7.70, 5.91, 17.49) | |
| 7:75612954 | R>T | A:316 | (-15.44, -12.91, 21.39) | |
| 7:75613060 | E>Q | A:318 | (-7.80, -12.25, 17.74) | |
| 7:75613075 | V>M | A:323 | (-14.24, -3.79, 11.82) | |
| 7:75613081 | V>L | A:325 | (-18.84, -0.14, 9.61) | |
| 7:75613084 | Y>H | A:326 | (-23.62, -1.73, 8.39) | |
| 7:75613087 | P>T | A:327 | (-22.66, 3.67, 7.09) | |
| 7:75613096 | D>N | A:330 | (-24.58, 13.66, 4.33) | |
| 7:75613108 | V>I | A:334 | (-30.70, 13.08, 1.80) | |
| 7:75613128 | I>M | A:340 | (-33.70, 17.73, -7.23) | |
| 7:75613138 | D>N | A:344 | (-42.35, 14.02, 1.48) | |
| 7:75613140 | D>E | A:344 | (-42.35, 14.02, 1.48) | |
| 7:75613144 | D>N | A:346 | (-40.87, 12.12, 5.89) | |
| 7:75613147 | COSM747093 COSM747094 |
V>I | A:347 | (-43.43, 9.25, 2.59) |
| 7:75614122 | P>L | A:365 | (-35.70, -2.78, 4.91) | |
| 7:75614131 | T>M | A:368 | (-39.26, 2.79, 5.00) | |
| 7:75614136 | Y>H | A:370 | (-39.24, 7.60, -0.06) | |
| 7:75614139 | COSM3367028 COSM3367029 |
R>C | A:371 | (-35.53, 11.44, 5.23) |
| 7:75614140 | R>H | A:371 | (-35.53, 11.44, 5.23) | |
| 7:75614151 | rs190570042 | T>A | A:375 | (-29.85, 7.54, 5.15) |
| 7:75614152 | T>I | A:375 | (-29.85, 7.54, 5.15) | |
| 7:75614157 | Y>H | A:377 | (-31.87, 0.76, 4.38) | |
| 7:75614170 | T>I | A:381 | (-21.89, 8.14, -2.73) | |
| 7:75614172 | N>D | A:382 | (-20.76, 4.93, -6.15) | |
| 7:75614176 | COSM3882432 COSM3882433 |
P>L | A:383 | (-20.09, 6.29, -9.09) |
| 7:75614182 | R>H | A:385 | (-23.10, 0.09, -11.19) | |
| 7:75614190 | V>M | A:388 | (-28.84, 3.44, -13.13) | |
| 7:75614191 | V>A | A:388 | (-28.84, 3.44, -13.13) | |
| 7:75614193 | L>V | A:389 | (-27.21, 5.95, -16.23) | |
| 7:75614205 | A>S | A:393 | (-33.23, 8.40, -19.49) | |
| 7:75614209 | Q>R | A:394 | (-37.41, 6.77, -18.82) | |
| 7:75614218 | S>L | A:397 | (-37.07, 16.32, -20.90) | |
| 7:75614227 | S>L | A:400 | (-29.41, 16.43, -24.78) | |
| 7:75614229 | E>K | A:401 | (-30.10, 16.05, -20.58) | |
| 7:75614244 | R>C | A:406 | (-30.92, 5.35, -23.52) | |
| 7:75614245 | rs72557929 | R>H | A:406 | (-30.92, 5.35, -23.52) |
| 7:75614251 | M>T | A:408 | (-23.60, 6.45, -20.47) | |
| 7:75614259 | S>A | A:411 | (-19.48, -1.56, -24.87) | |
| 7:75614265 | COSM381075 COSM381076 CM057353 |
G>S | A:413 | (-17.27, 4.27, -27.69) |
| 7:75614268 | E>K | A:414 | (-19.55, 8.74, -27.98) | |
| 7:75614391 | W>G | A:422 | (-21.16, 13.15, -16.88) | |
| 7:75614406 | R>W | A:427 | (-14.95, 9.89, -9.21) | |
| 7:75614407 | R>Q | A:427 | (-14.95, 9.89, -9.21) | |
| 7:75614448 | R>W | A:441 | (-35.95, 15.99, -12.44) | |
| 7:75614449 | R>Q | A:441 | (-35.95, 15.99, -12.44) | |
| 7:75614482 | rs72557935 | P>L | A:452 | (-27.25, 0.41, -5.17) |
| 7:75614484 | R>C | A:453 | (-28.73, -2.26, 0.09) | |
| 7:75614485 | R>H | A:453 | (-28.73, -2.26, 0.09) | |
| 7:75614492 | Q>H | A:455 | (-22.69, -2.30, 1.25) | |
| 7:75614497 | rs28931608 | R>H | A:457 | (-17.77, 0.92, 3.81) |
| 7:75614511 | rs72557936 | A>T | A:462 | (-5.88, -1.55, 16.03) |
| 7:75614512 | A>G | A:462 | (-5.88, -1.55, 16.03) | |
| 7:75614518 | S>F | A:464 | (-5.16, -6.78, 21.24) | |
| 7:75614903 | P>A | A:469 | (-11.14, -7.39, 25.56) | |
| 7:75614925 | A>V | A:476 | (-8.59, 6.16, 9.61) | |
| 7:75614928 | V>G | A:477 | (-7.91, 8.16, 6.06) | |
| 7:75614936 | E>K | A:480 | (-12.42, 15.57, 1.90) | |
| 7:75614951 | rs72557947 | A>T | A:485 | (-17.05, 18.72, -11.15) |
| 7:75614957 | R>C | A:487 | (-19.68, 18.64, -7.50) | |
| 7:75614958 | R>H | A:487 | (-19.68, 18.64, -7.50) | |
| 7:75614972 | V>M | A:492 | (-20.46, 7.08, 3.29) | |
| 7:75614986 | W>C | A:496 | (-20.83, 7.30, 10.24) | |
| 7:75614990 | COSM3698664 COSM3698665 |
R>W | A:498 | (-14.11, 13.87, 10.81) |
| 7:75614999 | E>K | A:501 | (-18.69, 13.52, 18.90) | |
| 7:75615001 | E>D | A:501 | (-18.69, 13.52, 18.90) | |
| 7:75615002 | P>S | A:502 | (-16.69, 11.15, 21.94) | |
| 7:75615005 | A>P | A:503 | (-19.04, 10.35, 25.58) | |
| 7:75615006 | rs1057868 | A>V | A:503 | (-19.04, 10.35, 25.58) |
| 7:75615023 | R>C | A:509 | (-24.17, 8.52, 22.43) | |
| 7:75615024 | R>H | A:509 | (-24.17, 8.52, 22.43) | |
| 7:75615027 | A>V | A:510 | (-22.24, 7.54, 19.71) | |
| 7:75615047 | rs145028213 | R>C | A:517 | (-15.57, -11.23, 8.07) |
| 7:75615048 | R>P | A:517 | (-15.57, -11.23, 8.07) | |
| 7:75615054 | S>F | A:519 | (-8.71, -13.05, 9.33) | |
| 7:75615058 | Q>H | A:520 | (-6.57, -16.51, 8.11) | |
| 7:75615061 | F>L | A:521 | (-3.07, -10.66, 8.97) | |
| 7:75615068 | P>S | A:524 | (3.08, -16.00, 15.21) | |
| 7:75615077 | A>S | A:527 | (6.33, -16.26, 20.48) | |
| 7:75615078 | A>V | A:527 | (6.33, -16.26, 20.48) | |
| 7:75615084 | T>M | A:529 | (8.32, -16.60, 15.66) | |
| 7:75615095 | M>V | A:533 | (5.58, -5.61, 11.09) | |
| 7:75615101 | G>S | A:535 | (3.00, -0.34, 7.20) | |
| 7:75615102 | G>D | A:535 | (3.00, -0.34, 7.20) | |
| 7:75615108 | G>V | A:537 | (0.22, 4.32, 7.04) | |
| 7:75615110 | T>P | A:538 | (-3.53, 3.38, 7.24) | |
| 7:75615119 | A>T | A:541 | (-3.31, -0.81, 11.98) | |
| 7:75615146 | R>W | A:550 | (5.00, -10.11, 20.00) | |
| 7:75615162 | Q>L | A:555 | (3.82, -7.71, 29.96) | |
| 7:75615246 | E>K | A:559 | (11.14, -16.60, 24.56) | |
| 7:75615247 | E>V | A:559 | (11.14, -16.60, 24.56) | |
| 7:75615252 | G>R | A:561 | (10.72, -12.34, 19.38) | |
| 7:75615259 | T>M | A:563 | (9.02, -7.24, 16.94) | |
| 7:75615273 | G>S | A:568 | (5.23, 5.35, 6.82) | |
| 7:75615279 | R>C | A:570 | (2.53, 12.10, 2.99) | |
| 7:75615280 | R>H | A:570 | (2.53, 12.10, 2.99) | |
| 7:75615282 | R>C | A:571 | (7.06, 15.97, 6.01) | |
| 7:75615283 | R>H | A:571 | (7.06, 15.97, 6.01) | |
| 7:75615286 | S>L | A:572 | (7.89, 13.87, 10.75) | |
| 7:75615288 | D>H | A:573 | (6.00, 17.54, 10.66) | |
| 7:75615301 | rs56256515 | L>P | A:577 | (0.24, 7.54, 12.44) |
| 7:75615309 | E>Q | A:580 | (4.15, 9.49, 20.88) | |
| 7:75615330 | R>G | A:587 | (10.91, 4.22, 25.14) | |
| 7:75615336 | G>S | A:589 | (11.15, -3.70, 24.00) | |
| 7:75615340 | A>V | A:590 | (8.40, -4.53, 22.38) | |
| 7:75615351 | L>V | A:594 | (10.72, 2.08, 14.76) | |
| 7:75615481 | rs72557954 | Y>C | A:607 | (8.69, 5.04, -0.62) |
| 7:75615483 | V>I | A:608 | (9.16, 0.78, 3.42) | |
| 7:75615499 | K>T | A:613 | (17.43, -3.65, -0.30) | |
| 7:75615511 | E>A | A:617 | (22.49, -9.27, 5.49) | |
| 7:75615513 | H>Y | A:618 | (18.45, -9.00, 10.62) | |
| 7:75615514 | H>R | A:618 | (18.45, -9.00, 10.62) | |
| 7:75615531 | E>K | A:624 | (17.52, -18.49, 6.87) | |
| 7:75615552 | rs145782750 | V>I | A:631 | (2.15, -6.61, 3.91) |
| 7:75615660 | A>V | A:635 | (-2.43, -2.78, -3.21) | |
| 7:75615663 | R>Q | A:636 | (-3.69, 1.00, -5.86) | |
| 7:75615677 | D>Y | A:641 | (7.04, -2.03, -4.82) | |
| 7:75615684 | Q>P | A:643 | (6.11, -9.13, -3.26) | |
| 7:75615690 | T>N | A:645 | (12.32, -5.86, -2.11) | |
| 7:75615692 | F>I | A:646 | (10.84, -9.17, 0.92) | |
| 7:75615693 | F>S | A:646 | (10.84, -9.17, 0.92) | |
| 7:75615698 | D>N | A:648 | (15.65, -8.58, -4.80) | |
| 7:75615699 | D>V | A:648 | (15.65, -8.58, -4.80) | |
| 7:75615701 | I>V | A:649 | (16.35, -9.78, 0.14) | |
| 7:75615704 | rs148175064 | V>M | A:650 | (15.88, -14.21, -1.36) |
| 7:75615720 | A>V | A:655 | (21.64, -18.83, -3.22) | |
| 7:75615722 | M>V | A:656 | (18.20, -18.24, -4.97) | |
| 7:75615725 | E>Q | A:657 | (18.56, -17.39, -9.95) | |
| 7:75615728 | H>N | A:658 | (14.07, -13.12, -9.43) | |
| 7:75615731 | A>T | A:659 | (12.72, -17.27, -10.04) | |
| 7:75615732 | A>V | A:659 | (12.72, -17.27, -10.04) | |
| 7:75615738 | A>V | A:661 | (12.81, -16.05, -5.17) | |
| 7:75615741 | V>E | A:662 | (9.39, -15.72, -6.92) | |
| 7:75615746 | Y>D | A:664 | (11.84, -18.79, -0.35) | |
| 7:75615749 | I>V | A:665 | (8.27, -15.29, -1.30) | |
| 7:75615756 | K>T | A:667 | (6.85, -22.25, -0.22) | |
| 7:75615761 | M>L | A:669 | (2.41, -16.55, 0.49) | |
| 7:75615773 | R>G | A:673 | (6.93, -17.92, 6.88) | |
| 7:75615788 | V>M | A:678 | (-3.82, -5.27, 0.94) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:75610390 | rs72552771 | Y>D | A:181 | (-6.42, -8.56, -4.02) |
| 7:75612866 | rs121912974 | A>P | A:287 | (-20.87, 0.53, 19.24) |
| 7:75614497 | rs28931608 | R>H | A:457 | (-17.77, 0.92, 3.81) |
| 7:75614973 | rs28931606 | V>E | A:492 | (-20.46, 7.08, 3.29) |
| 7:75615113 | rs121912976 | G>R | A:539 | (-1.16, 0.01, 7.52) |
| 7:75615277 | rs28931607 | C>Y | A:569 | (5.19, 9.06, 6.60) |
| 7:75615304 | rs121912975 | Y>C | A:578 | (-0.73, 5.34, 16.29) |
| 7:75615483 | rs72552772 | V>I | A:608 | (9.16, 0.78, 3.42) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:75608805 | COSM4539884 | G>R | A:92 | (-23.62, -7.15, -3.93) |
| 7:75608875 | COSM1623099 | A>V | A:115 | (-29.72, -17.51, -6.74) |
| 7:75614139 | COSM3367028 | R>C | A:371 | (-35.53, 11.44, 5.23) |