General Structure Information
| PDB ID | 3gid |
| HGNC Gene Label(s) | ACACB |
| Structure Name | the biotin carboxylase (bc) domain of human acetyl-coa carboxylase 2 (acc2) in complex with soraphen a |
| Resolution | 2.3Å |
| Reference | AUTH B.RAYMER,M.KAVANA,A.PRICE,B.WANG,L.CORCORAN,R.KULATHILA,AUTH 2 J.GROARKE,T.MANNTITL SYNTHESIS AND CHARACTERIZATION OF A BODIPY-LABELEDTITL 2 DERIVATIVE OF SORAPHEN A THAT BINDS TO ACETYL-COATITL 3 CARBOXYLASE.REF BIOORG.MED.CHEM.LETT. V. 19 2804 2009REFN ISSN 0960-894XPMID 19359168DOI 10.1016/J.BMCL.2009.03.107 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 460 |
| Number Of SNVs | 124 |
| Number Of Permutations | 54910 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.02 |
| p-value | 0.635 |
COSMIC
| Number Of Residues | 460 |
| Number Of SNVs | 12 |
| Number Of Permutations | 4085 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.03 |
| p-value | 0.827 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 124 |
| Number Of COSMIC SNVs | 12 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | -0.052 |
| p-value | 0.744 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:109604742 | COSM1181495 | V>M | A:244 | (-5.31, -18.82, 30.90) |
| 12:109604758 | rs138883898 | E>G | A:249 | (-3.26, -15.98, 27.02) |
| 12:109604761 | F>C | A:250 | (-9.84, -15.82, 26.70) | |
| 12:109604767 | T>I | A:252 | (-5.22, -14.94, 21.58) | |
| 12:109604769 | rs149394526 | R>C | A:253 | (-4.72, -19.73, 24.01) |
| 12:109604770 | rs146370716 | R>H | A:253 | (-4.72, -19.73, 24.01) |
| 12:109604773 | F>S | A:254 | (-10.63, -19.21, 23.77) | |
| 12:109604779 | G>E | A:256 | (-10.47, -13.03, 19.63) | |
| 12:109604784 | COSM3455745 | R>W | A:258 | (-12.44, -5.66, 21.99) |
| 12:109604785 | rs144515904 | R>Q | A:258 | (-12.44, -5.66, 21.99) |
| 12:109604793 | rs146179662 | E>K | A:261 | (-8.62, -6.07, 31.81) |
| 12:109605701 | COSM3687937 | V>L | A:263 | (-16.42, -3.60, 33.34) |
| 12:109605702 | V>G | A:263 | (-16.42, -3.60, 33.34) | |
| 12:109605719 | rs533919628 | G>R | A:269 | (-27.98, -4.02, 42.96) |
| 12:109605726 | A>G | A:271 | (-27.69, -6.27, 38.81) | |
| 12:109605728 | A>T | A:272 | (-24.54, -5.40, 40.16) | |
| 12:109605731 | V>M | A:273 | (-24.42, -8.27, 42.78) | |
| 12:109605738 | C>Y | A:275 | (-22.46, -9.04, 36.95) | |
| 12:109605741 | rs368005004 | M>T | A:276 | (-19.86, -8.26, 40.13) |
| 12:109605743 | rs370590640 COSM1946160 |
R>C | A:277 | (-21.94, -12.81, 43.27) |
| 12:109605744 | COSM278567 | R>H | A:277 | (-21.94, -12.81, 43.27) |
| 12:109605777 | R>H | A:288 | (-7.90, -20.72, 38.91) | |
| 12:109605782 | COSM223588 | E>K | A:290 | (-12.05, -13.45, 42.15) |
| 12:109605786 | R>Q | A:291 | (-11.23, -9.51, 42.07) | |
| 12:109605788 | rs140786675 | A>S | A:292 | (-9.17, -10.56, 36.25) |
| 12:109605794 | rs144382279 | R>W | A:294 | (-10.28, -5.64, 38.68) |
| 12:109605795 | R>Q | A:294 | (-10.28, -5.64, 38.68) | |
| 12:109605818 | E>K | A:302 | (-29.75, 7.89, 46.98) | |
| 12:109605822 | D>V | A:303 | (-27.18, 3.59, 46.63) | |
| 12:109605829 | K>N | A:305 | (-27.84, 7.14, 53.04) | |
| 12:109605834 | N>S | A:307 | (-23.62, 0.73, 52.67) | |
| 12:109605836 | rs78715638 | A>T | A:308 | (-24.89, -0.67, 48.93) |
| 12:109605837 | A>V | A:308 | (-24.89, -0.67, 48.93) | |
| 12:109609627 | rs545842213 | D>Y | A:315 | (-12.77, -3.45, 42.19) |
| 12:109609636 | rs372405230 | V>I | A:318 | (-18.16, 6.50, 40.40) |
| 12:109609642 | rs189283811 | V>I | A:320 | (-23.43, 9.53, 40.37) |
| 12:109609658 | N>S | A:325 | (-32.89, 7.10, 35.91) | |
| 12:109609676 | N>S | A:331 | (-27.07, 9.85, 31.69) | |
| 12:109609678 | V>M | A:332 | (-25.97, 7.85, 27.77) | |
| 12:109609681 | E>K | A:333 | (-24.69, 11.46, 27.69) | |
| 12:109609691 | V>E | A:336 | (-19.68, 7.57, 27.80) | |
| 12:109609714 | rs138145479 | V>M | A:344 | (-13.57, 1.09, 30.89) |
| 12:109609719 | Q>H | A:345 | (-11.95, -2.12, 28.39) | |
| 12:109610083 | V>L | A:347 | (-20.54, -1.01, 29.50) | |
| 12:109610090 | A>V | A:349 | (-26.61, -2.44, 31.75) | |
| 12:109610126 | rs199655635 COSM1358577 |
P>L | A:361 | (-24.46, 1.32, 22.21) |
| 12:109610135 | L>P | A:364 | (-19.98, 3.31, 24.21) | |
| 12:109610137 | C>G | A:365 | (-18.40, 2.48, 19.55) | |
| 12:109610138 | C>F | A:365 | (-18.40, 2.48, 19.55) | |
| 12:109611939 | P>T | A:374 | (-27.05, -5.10, 21.72) | |
| 12:109611945 | S>R | A:376 | (-27.10, 0.49, 17.58) | |
| 12:109611978 | rs561181524 | A>T | A:387 | (-40.41, -2.66, 11.94) |
| 12:109611987 | rs550167301 | V>I | A:390 | (-42.55, -5.93, 8.92) |
| 12:109611993 | rs377615413 COSM3739412 |
A>T | A:392 | (-41.27, -10.99, 11.30) |
| 12:109612000 | rs376114199 | T>M | A:394 | (-40.65, -11.03, 6.18) |
| 12:109612006 | rs201859471 | Q>R | A:396 | (-42.52, -16.65, 7.45) |
| 12:109612027 | S>N | A:403 | (-52.89, -2.75, 9.84) | |
| 12:109612035 | G>S | A:406 | (-48.51, -8.80, 4.66) | |
| 12:109613745 | V>A | A:409 | (-39.28, -6.41, 3.10) | |
| 12:109613823 | K>R | A:435 | (-55.25, 7.78, 6.07) | |
| 12:109613826 | rs184816447 | D>G | A:436 | (-59.71, 7.96, 7.63) |
| 12:109613828 | rs201786970 | V>I | A:437 | (-62.58, 7.08, 11.51) |
| 12:109613837 | G>S | A:440 | (-60.35, 1.94, 10.54) | |
| 12:109613986 | M>T | A:452 | (-54.07, -1.20, 20.33) | |
| 12:109613989 | I>T | A:453 | (-55.44, 2.85, 18.21) | |
| 12:109613995 | A>V | A:455 | (-49.21, 6.45, 16.55) | |
| 12:109614016 | K>T | A:462 | (-48.17, 6.84, 24.75) | |
| 12:109614023 | I>M | A:464 | (-51.82, 4.48, 22.99) | |
| 12:109614035 | E>D | A:468 | (-62.83, -3.12, 24.97) | |
| 12:109614036 | S>C | A:469 | (-65.50, -1.81, 20.75) | |
| 12:109614039 | A>T | A:470 | (-66.56, -0.42, 17.46) | |
| 12:109614040 | rs202035669 | A>V | A:470 | (-66.56, -0.42, 17.46) |
| 12:109614044 | E>D | A:471 | (-69.69, 1.30, 20.13) | |
| 12:109614052 | P>L | A:474 | (-64.57, 6.43, 16.95) | |
| 12:109614062 | COSM1746723 | F>L | A:477 | (-58.65, 7.19, 14.98) |
| 12:109614065 | R>S | A:478 | (-62.38, 10.92, 16.48) | |
| 12:109614066 | Q>E | A:479 | (-58.60, 10.39, 21.62) | |
| 12:109616906 | I>T | A:484 | (-49.43, 12.44, 17.40) | |
| 12:109616915 | S>L | A:487 | (-49.01, 10.27, 12.69) | |
| 12:109616917 | P>S | A:488 | (-48.71, 7.54, 10.82) | |
| 12:109616920 | I>V | A:489 | (-52.75, 5.63, 12.80) | |
| 12:109616929 | M>V | A:492 | (-51.85, -4.44, 16.87) | |
| 12:109616930 | rs139024189 | M>T | A:492 | (-51.85, -4.44, 16.87) |
| 12:109616947 | rs143885746 | A>T | A:498 | (-52.33, -15.11, 26.35) |
| 12:109616951 | rs201408408 | R>H | A:499 | (-49.36, -18.74, 28.95) |
| 12:109616974 | rs574173923 | A>T | A:507 | (-25.34, -13.65, 19.92) |
| 12:109616981 | Q>R | A:509 | (-19.25, -10.04, 17.15) | |
| 12:109616982 | Q>H | A:509 | (-19.25, -10.04, 17.15) | |
| 12:109617013 | D>N | A:520 | (-44.02, -19.60, 31.00) | |
| 12:109617020 | S>C | A:522 | (-47.47, -19.12, 34.68) | |
| 12:109617023 | I>T | A:523 | (-48.71, -16.37, 37.33) | |
| 12:109617046 | V>I | A:531 | (-44.83, -17.18, 38.36) | |
| 12:109617059 | COSM1639026 | P>L | A:535 | (-38.64, -25.30, 30.81) |
| 12:109617074 | P>L | A:540 | (-45.99, -28.30, 21.95) | |
| 12:109617079 | A>S | A:542 | (-42.26, -28.90, 17.99) | |
| 12:109617082 | I>V | A:543 | (-44.45, -25.12, 18.26) | |
| 12:109617094 | M>V | A:547 | (-41.30, -20.58, 18.94) | |
| 12:109617728 | rs16940029 | I>V | A:552 | (-32.14, -17.97, 15.76) |
| 12:109617731 | rs374758183 | R>C | A:553 | (-34.89, -17.00, 10.62) |
| 12:109617732 | rs376035720 | R>H | A:553 | (-34.89, -17.00, 10.62) |
| 12:109617746 | rs556775153 | V>M | A:558 | (-31.31, -7.56, 13.32) |
| 12:109617756 | rs370344183 | V>G | A:561 | (-24.85, -9.03, 19.61) |
| 12:109617761 | A>T | A:563 | (-28.38, -11.31, 25.20) | |
| 12:109617771 | V>A | A:566 | (-37.97, -13.57, 21.39) | |
| 12:109617783 | rs145285048 | Y>C | A:570 | (-49.12, -20.69, 23.27) |
| 12:109617788 | rs188194445 | Q>E | A:572 | (-56.35, -21.14, 24.84) |
| 12:109617789 | Q>R | A:572 | (-56.35, -21.14, 24.84) | |
| 12:109617824 | rs140894897 | R>C | A:584 | (-33.36, -6.50, 28.61) |
| 12:109617849 | T>I | A:592 | (-32.19, -19.97, 31.50) | |
| 12:109617856 | M>I | A:594 | (-29.97, -23.83, 36.67) | |
| 12:109617861 | A>G | A:596 | (-28.48, -24.59, 30.54) | |
| 12:109617866 | rs200954726 COSM934714 |
V>I | A:598 | (-25.26, -20.90, 30.64) |
| 12:109617886 | Q>H | A:604 | (-22.96, -10.87, 28.09) | |
| 12:109623387 | A>T | A:608 | (-17.49, -8.61, 23.73) | |
| 12:109623394 | rs540118947 | G>D | A:610 | (-14.96, -12.12, 20.17) |
| 12:109623396 | V>M | A:611 | (-15.59, -15.21, 21.70) | |
| 12:109623397 | rs567060031 | V>A | A:611 | (-15.59, -15.21, 21.70) |
| 12:109623408 | rs145713657 | R>W | A:615 | (-13.79, -21.40, 20.99) |
| 12:109623423 | R>W | A:620 | (-18.27, -26.92, 22.61) | |
| 12:109623436 | rs140603461 | G>E | A:624 | (-21.94, -32.46, 23.59) |
| 12:109623477 | P>S | A:638 | (-30.47, -28.84, 16.05) | |
| 12:109623484 | N>I | A:640 | (-29.80, -34.66, 18.41) | |
| 12:109623495 | rs111403940 | A>T | A:644 | (-33.45, -29.38, 29.77) |
| 12:109623499 | rs202062595 | R>Q | A:645 | (-29.72, -29.13, 34.47) |
| 12:109623507 | rs376760625 | V>I | A:648 | (-36.92, -23.34, 37.25) |
| 12:109623510 | I>V | A:649 | (-40.33, -22.31, 39.66) | |
| 12:109623516 | rs2300455 | A>T | A:651 | (-41.15, -16.03, 42.54) |
| 12:109625822 | G>R | A:667 | (-29.38, -1.25, 46.17) | |
| 12:109625828 | V>I | A:669 | (-29.09, -6.81, 48.32) | |
| 12:109625846 | rs202216589 | R>W | A:675 | (-32.46, -23.89, 57.73) |
| 12:109625847 | R>Q | A:675 | (-32.46, -23.89, 57.73) | |
| 12:109625853 | rs373217436 | S>N | A:677 | (-34.42, -25.84, 50.30) |
| 12:109625854 | S>R | A:677 | (-34.42, -25.84, 50.30) | |
| 12:109625862 | V>A | A:680 | (-34.34, -22.56, 46.89) | |
| 12:109625924 | G>R | A:701 | (-38.19, -10.01, 44.60) | |
| 12:109625945 | E>Q | A:708 | (-35.93, -34.29, 39.05) | |
| 12:109625951 | rs201035398 | R>W | A:710 | (-44.01, -28.07, 36.84) |
| 12:109625959 | E>D | A:712 | (-38.34, -31.53, 42.64) | |
| 12:109629465 | R>M | A:731 | (-46.34, -13.07, 57.78) | |
| 12:109629466 | R>S | A:731 | (-46.34, -13.07, 57.78) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:109604742 | COSM1181495 | V>M | A:244 | (-5.31, -18.82, 30.90) |
| 12:109604784 | COSM3455745 | R>W | A:258 | (-12.44, -5.66, 21.99) |
| 12:109605782 | COSM223588 | E>K | A:290 | (-12.05, -13.45, 42.15) |
| 12:109610126 | COSM1358577 | P>L | A:361 | (-24.46, 1.32, 22.21) |
| 12:109613968 | COSM934711 | R>I | A:446 | (-60.35, -6.50, 7.29) |
| 12:109614062 | COSM1746723 | F>L | A:477 | (-58.65, 7.19, 14.98) |
| 12:109617873 | COSM1746724 | L>Q | A:600 | (-25.85, -15.60, 30.48) |
| 12:109617881 | COSM1181496 | A>T | A:603 | (-21.20, -14.88, 27.77) |
| 12:109623408 | COSM77199 | R>W | A:615 | (-13.79, -21.40, 20.99) |
| 12:109623477 | COSM4398878 | P>S | A:638 | (-30.47, -28.84, 16.05) |
| 12:109623516 | COSM1358579 | A>T | A:651 | (-41.15, -16.03, 42.54) |
| 12:109625967 | COSM1181494 | S>L | A:715 | (-42.25, -28.74, 46.21) |