General Structure Information
| PDB ID | 1m9i |
| HGNC Gene Label(s) | ANXA6 |
| Structure Name | crystal structure of phosphorylation-mimicking mutant t356d of annexin vi |
| Resolution | 2.65Å |
| Reference | AUTH C.FREYE-MINKS,R.H.KRETSINGER,C.E.CREUTZTITL STRUCTURAL AND DYNAMIC CHANGES IN HUMAN ANNEXIN VITITL 2 INDUCED BY A PHOSPHORYLATION-MIMICKING MUTATION,TITL 3 T356DREF BIOCHEMISTRY V. 42 620 2003REFN ISSN 0006-2960PMID 12534274DOI 10.1021/BI026742H |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 664 |
| Number Of SNVs | 192 |
| Number Of Permutations | 82911 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.006 |
| p-value | 0.765 |
COSMIC
| Number Of Residues | 664 |
| Number Of SNVs | 5 |
| Number Of Permutations | 2086 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.1 |
| p-value | 0.121 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 192 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.064 |
| p-value | 0.898 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:150519794 | rs540355415 | Y>S | A:10 | (-54.72, -6.34, -135.98) |
| 5:150519791 | rs200516508 COSM482360 COSM482359 |
R>Q | A:11 | (-50.19, -9.26, -137.42) |
| 5:150519792 | COSM399160 COSM399159 |
R>W | A:11 | (-50.19, -9.26, -137.42) |
| 5:150519774 | rs572970397 | F>L | A:17 | (-63.67, -4.06, -135.80) |
| 5:150519771 | P>A | A:18 | (-66.96, -5.03, -140.30) | |
| 5:150519761 | rs374142278 | D>V | A:21 | (-75.92, -3.11, -136.24) |
| 5:150519754 | N>K | A:23 | (-79.56, -4.91, -133.92) | |
| 5:150519744 | E>K | A:27 | (-82.94, -9.70, -136.88) | |
| 5:150519726 | M>V | A:33 | (-81.66, -20.38, -134.38) | |
| 5:150519716 | F>S | A:36 | (-85.71, -29.17, -137.52) | |
| 5:150518994 | rs371136248 | A>T | A:42 | (-74.78, -18.51, -141.04) |
| 5:150518990 | rs377666144 | I>T | A:43 | (-74.36, -18.94, -137.10) |
| 5:150518969 | R>Q | A:50 | (-69.16, -10.00, -137.30) | |
| 5:150518970 | R>W | A:50 | (-69.16, -10.00, -137.30) | |
| 5:150518958 | Q>E | A:54 | (-68.46, -6.54, -133.14) | |
| 5:150518918 | G>D | A:67 | (-85.34, -12.21, -124.15) | |
| 5:150518346 | I>V | A:71 | (-74.77, -18.36, -125.50) | |
| 5:150518339 | D>V | A:73 | (-80.59, -20.13, -128.10) | |
| 5:150518330 | Y>C | A:76 | (-81.71, -26.13, -128.83) | |
| 5:150518321 | rs201366459 | T>M | A:79 | (-73.45, -30.38, -131.01) |
| 5:150518311 | F>L | A:82 | (-69.95, -25.71, -134.68) | |
| 5:150518306 | R>Q | A:84 | (-65.89, -26.26, -126.48) | |
| 5:150518298 | V>M | A:87 | (-69.72, -20.78, -127.15) | |
| 5:150518287 | rs200324031 | M>I | A:90 | (-69.94, -15.51, -128.25) |
| 5:150518277 | A>T | A:94 | (-61.15, -13.44, -119.74) | |
| 5:150518264 | rs192345606 | A>D | A:98 | (-61.40, -18.87, -116.96) |
| 5:150518254 | rs371316153 | I>M | A:101 | (-57.75, -22.25, -115.98) |
| 5:150518244 | I>V | A:105 | (-58.21, -27.35, -112.17) | |
| 5:150518240 | rs188111044 | S>L | A:106 | (-61.83, -29.49, -113.23) |
| 5:150516875 | G>D | A:109 | (-57.26, -34.48, -113.55) | |
| 5:150516868 | D>E | A:111 | (-54.55, -29.97, -118.65) | |
| 5:150516860 | C>Y | A:114 | (-53.69, -25.66, -120.33) | |
| 5:150516854 | I>T | A:116 | (-47.96, -24.60, -119.13) | |
| 5:150516855 | I>V | A:116 | (-47.96, -24.60, -119.13) | |
| 5:150516842 | A>V | A:120 | (-46.59, -18.62, -120.20) | |
| 5:150516843 | A>T | A:120 | (-46.59, -18.62, -120.20) | |
| 5:150516836 | R>Q | A:122 | (-51.98, -15.54, -121.43) | |
| 5:150516837 | COSM3715147 COSM3715146 |
R>W | A:122 | (-51.98, -15.54, -121.43) |
| 5:150516829 | rs372418711 | N>K | A:124 | (-48.67, -8.43, -116.48) |
| 5:150516817 | rs369946660 | H>Q | A:128 | (-54.01, -8.56, -113.68) |
| 5:150516803 | A>V | A:133 | (-63.08, -13.47, -114.38) | |
| 5:150516804 | A>T | A:133 | (-63.08, -13.47, -114.38) | |
| 5:150516795 | D>N | A:136 | (-67.61, -12.76, -111.61) | |
| 5:150515891 | rs576940712 | E>K | A:139 | (-68.29, -17.44, -106.62) |
| 5:150515887 | R>Q | A:140 | (-63.43, -20.10, -106.58) | |
| 5:150515876 | A>T | A:144 | (-55.97, -21.25, -104.47) | |
| 5:150515873 | D>H | A:145 | (-58.06, -22.98, -107.19) | |
| 5:150515866 | I>T | A:147 | (-51.91, -23.67, -104.70) | |
| 5:150515864 | G>S | A:148 | (-54.59, -27.26, -105.14) | |
| 5:150515860 | rs374202467 | D>V | A:149 | (-54.69, -28.92, -108.55) |
| 5:150515861 | D>N | A:149 | (-54.69, -28.92, -108.55) | |
| 5:150515851 | G>D | A:152 | (-43.76, -27.23, -106.49) | |
| 5:150515846 | F>V | A:154 | (-45.66, -26.43, -112.08) | |
| 5:150515834 | L>I | A:158 | (-47.77, -21.38, -111.99) | |
| 5:150514005 | V>I | A:177 | (-28.10, -8.14, -119.28) | |
| 5:150513994 | D>E | A:180 | (-29.28, -11.78, -115.30) | |
| 5:150513996 | D>N | A:180 | (-29.28, -11.78, -115.30) | |
| 5:150512739 | rs371950946 | E>K | A:186 | (-23.16, -19.08, -111.82) |
| 5:150512721 | W>R | A:192 | (-25.10, -33.40, -110.44) | |
| 5:150512714 | rs559953264 | T>R | A:194 | (-31.03, -26.25, -111.64) |
| 5:150512702 | Q>R | A:198 | (-31.95, -17.38, -109.71) | |
| 5:150512678 | R>H | A:206 | (-35.76, -9.46, -114.46) | |
| 5:150512672 | K>R | A:208 | (-40.79, -10.13, -123.35) | |
| 5:150512655 | V>L | A:214 | (-30.27, -12.21, -121.44) | |
| 5:150512100 | rs555143194 | P>S | A:225 | (-28.89, -22.30, -126.04) |
| 5:150512087 | S>N | A:229 | (-28.80, -25.32, -119.82) | |
| 5:150512055 | K>E | A:240 | (-42.08, -29.55, -120.00) | |
| 5:150512040 | rs199837151 | V>I | A:245 | (-41.34, -19.16, -120.17) |
| 5:150510838 | rs185485420 | R>Q | A:250 | (-36.95, -16.91, -127.71) |
| 5:150510839 | R>W | A:250 | (-36.95, -16.91, -127.71) | |
| 5:150510835 | S>N | A:251 | (-41.87, -16.11, -129.62) | |
| 5:150510832 | rs369107731 | T>I | A:252 | (-45.58, -15.99, -127.95) |
| 5:150510829 | rs375897526 | P>L | A:253 | (-45.97, -16.27, -131.64) |
| 5:150510819 | F>L | A:256 | (-49.50, -20.19, -129.07) | |
| 5:150510812 | rs368910003 | R>G | A:259 | (-48.34, -26.64, -128.25) |
| 5:150510809 | COSM272089 | L>F | A:260 | (-51.36, -25.13, -133.37) |
| 5:150510797 | M>V | A:264 | (-52.85, -31.08, -135.74) | |
| 5:150510794 | K>E | A:265 | (-48.80, -35.34, -133.67) | |
| 5:150509087 | L>V | A:267 | (-53.49, -40.76, -135.82) | |
| 5:150509077 | rs374143469 COSM3852859 COSM3852858 |
R>Q | A:270 | (-54.50, -33.55, -130.31) |
| 5:150509073 | rs557062451 | D>E | A:271 | (-59.95, -30.89, -130.90) |
| 5:150509074 | D>G | A:271 | (-59.95, -30.89, -130.90) | |
| 5:150509069 | T>A | A:273 | (-55.74, -27.25, -127.73) | |
| 5:150509059 | rs370507444 | R>H | A:276 | (-56.94, -23.57, -125.68) |
| 5:150509060 | R>C | A:276 | (-56.94, -23.57, -125.68) | |
| 5:150509052 | rs200380149 COSM1194414 COSM1194413 |
M>I | A:278 | (-57.32, -20.69, -133.54) |
| 5:150509053 | M>T | A:278 | (-57.32, -20.69, -133.54) | |
| 5:150509054 | M>V | A:278 | (-57.32, -20.69, -133.54) | |
| 5:150509044 | COSM1486499 COSM1486498 |
R>H | A:281 | (-53.42, -15.60, -129.39) |
| 5:150509042 | S>G | A:282 | (-58.00, -14.29, -133.02) | |
| 5:150509028 | M>I | A:286 | (-53.25, -16.10, -135.87) | |
| 5:150509029 | M>T | A:286 | (-53.25, -16.10, -135.87) | |
| 5:150509017 | R>L | A:290 | (-51.03, -17.47, -141.36) | |
| 5:150509005 | R>Q | A:294 | (-44.97, -19.61, -143.76) | |
| 5:150509006 | rs374445008 | R>W | A:294 | (-44.97, -19.61, -143.76) |
| 5:150507785 | E>K | A:312 | (-70.03, -27.07, -139.95) | |
| 5:150507755 | G>R | A:322 | (-56.12, -18.03, -142.87) | |
| 5:150507751 | G>A | A:323 | (-54.98, -19.16, -146.41) | |
| 5:150507748 | D>G | A:324 | (-55.76, -17.14, -149.11) | |
| 5:150507742 | D>V | A:326 | (-52.45, -11.52, -150.72) | |
| 5:150506025 | F>I | A:332 | (-45.02, -8.72, -140.95) | |
| 5:150506021 | P>L | A:333 | (-41.49, -8.29, -137.85) | |
| 5:150506016 | rs200844635 | A>T | A:335 | (-41.02, -14.15, -138.46) |
| 5:150506012 | rs565185923 | A>V | A:336 | (-38.03, -12.54, -139.37) |
| 5:150506013 | A>T | A:336 | (-38.03, -12.54, -139.37) | |
| 5:150506008 | Q>H | A:337 | (-35.94, -12.44, -135.31) | |
| 5:150505996 | rs202059733 | Q>H | A:341 | (-32.23, -16.06, -134.47) |
| 5:150505993 | M>I | A:342 | (-33.90, -20.92, -136.96) | |
| 5:150505973 | A>D | A:349 | (-24.05, -23.54, -131.85) | |
| 5:150503922 | G>R | A:355 | (-24.66, -41.67, -130.72) | |
| 5:150503912 | rs545945295 COSM1064511 COSM1064510 |
R>H | A:358 | (-21.06, -45.41, -128.80) |
| 5:150503913 | rs564132684 | R>C | A:358 | (-21.06, -45.41, -128.80) |
| 5:150503909 | P>L | A:359 | (-17.90, -49.16, -128.39) | |
| 5:150503906 | A>D | A:360 | (-18.18, -52.87, -126.42) | |
| 5:150503907 | A>T | A:360 | (-18.18, -52.87, -126.42) | |
| 5:150503903 | N>S | A:361 | (-17.06, -52.57, -122.76) | |
| 5:150503904 | N>D | A:361 | (-17.06, -52.57, -122.76) | |
| 5:150503896 | F>L | A:363 | (-14.66, -56.84, -128.59) | |
| 5:150503888 | D>A | A:366 | (-13.66, -65.88, -129.82) | |
| 5:150503883 | D>Y | A:368 | (-19.17, -62.33, -130.25) | |
| 5:150503867 | rs199942887 | R>Q | A:373 | (-21.48, -71.33, -136.32) |
| 5:150503859 | M>V | A:376 | (-26.50, -69.45, -137.26) | |
| 5:150503847 | rs368961879 | G>R | A:380 | (-32.51, -73.18, -136.52) |
| 5:150502564 | COSM3827444 COSM272231 |
E>K | A:383 | (-33.52, -64.55, -134.20) |
| 5:150502560 | D>G | A:384 | (-32.75, -62.83, -129.54) | |
| 5:150502552 | I>L | A:387 | (-30.72, -58.82, -132.55) | |
| 5:150502548 | D>V | A:388 | (-28.97, -58.78, -128.45) | |
| 5:150502549 | rs201960506 | D>N | A:388 | (-28.97, -58.78, -128.45) |
| 5:150502546 | I>V | A:389 | (-24.31, -59.42, -130.35) | |
| 5:150502539 | T>M | A:391 | (-27.29, -54.01, -132.04) | |
| 5:150502533 | R>H | A:393 | (-21.20, -55.49, -130.11) | |
| 5:150502534 | COSM1064509 COSM1064508 |
R>S | A:393 | (-21.20, -55.49, -130.11) |
| 5:150502530 | S>N | A:394 | (-19.20, -51.16, -133.20) | |
| 5:150502518 | R>Q | A:398 | (-20.62, -54.32, -136.42) | |
| 5:150502506 | R>Q | A:402 | (-17.31, -59.42, -141.43) | |
| 5:150502507 | R>W | A:402 | (-17.31, -59.42, -141.43) | |
| 5:150502500 | COSM3612639 COSM3612638 |
T>N | A:404 | (-12.91, -63.90, -136.05) |
| 5:150502493 | rs374219814 | K>N | A:406 | (-14.06, -66.08, -143.07) |
| 5:150502492 | rs201350840 | S>A | A:407 | (-10.78, -67.70, -138.92) |
| 5:150502479 | rs536422676 | R>Q | A:411 | (-19.13, -70.54, -142.44) |
| 5:150501809 | D>N | A:416 | (-24.02, -67.71, -142.84) | |
| 5:150501793 | I>T | A:421 | (-31.85, -63.57, -140.97) | |
| 5:150501794 | I>L | A:421 | (-31.85, -63.57, -140.97) | |
| 5:150501779 | A>T | A:426 | (-31.99, -58.78, -142.80) | |
| 5:150501752 | P>S | A:435 | (-18.75, -51.21, -144.27) | |
| 5:150501748 | rs34326317 | P>L | A:436 | (-19.84, -47.27, -143.39) |
| 5:150501746 | A>S | A:437 | (-18.86, -46.52, -147.42) | |
| 5:150501737 | rs540689618 | D>N | A:440 | (-24.09, -45.15, -148.18) |
| 5:150501733 | A>V | A:441 | (-23.02, -47.63, -151.99) | |
| 5:150501728 | rs545229099 | Q>E | A:443 | (-28.55, -48.08, -150.05) |
| 5:150501721 | K>R | A:445 | (-26.78, -50.01, -156.95) | |
| 5:150498948 | A>T | A:451 | (-37.26, -49.55, -162.41) | |
| 5:150498939 | rs200384516 | D>N | A:454 | (-35.37, -44.03, -154.62) |
| 5:150498936 | E>K | A:455 | (-36.09, -40.08, -156.69) | |
| 5:150498932 | K>T | A:456 | (-36.74, -39.78, -150.54) | |
| 5:150498929 | rs201681691 | A>V | A:457 | (-32.52, -41.90, -151.50) |
| 5:150498905 | R>Q | A:465 | (-24.05, -38.57, -146.27) | |
| 5:150498891 | I>F | A:470 | (-18.67, -38.19, -150.80) | |
| 5:150498887 | R>Q | A:471 | (-13.35, -37.53, -150.67) | |
| 5:150498888 | rs200856940 | R>W | A:471 | (-13.35, -37.53, -150.67) |
| 5:150498885 | A>S | A:472 | (-15.55, -43.13, -149.70) | |
| 5:150498878 | N>S | A:474 | (-16.90, -42.36, -154.79) | |
| 5:150498867 | K>E | A:478 | (-14.42, -49.06, -157.58) | |
| 5:150497395 | rs150654386 | Y>C | A:481 | (-21.43, -52.09, -157.01) |
| 5:150497390 | K>Q | A:483 | (-19.44, -47.83, -162.68) | |
| 5:150497384 | L>M | A:485 | (-21.31, -42.39, -158.16) | |
| 5:150497374 | rs376748472 | A>G | A:488 | (-24.27, -44.37, -162.25) |
| 5:150497372 | L>M | A:489 | (-25.67, -40.85, -161.02) | |
| 5:150497327 | L>V | A:504 | (-23.56, -32.98, -154.20) | |
| 5:150497320 | rs112329421 | T>M | A:506 | (-17.72, -34.23, -156.36) |
| 5:150496738 | rs112943838 | H>N | A:508 | (-14.25, -29.86, -154.49) |
| 5:150496734 | rs372396908 | R>H | A:509 | (-19.71, -28.53, -150.41) |
| 5:150496735 | rs200918889 | R>C | A:509 | (-19.71, -28.53, -150.41) |
| 5:150496726 | rs369377233 | G>R | A:512 | (-14.59, -22.77, -145.75) |
| 5:150496701 | rs200015828 | R>Q | A:520 | (-23.28, -8.86, -149.19) |
| 5:150496693 | rs201672157 | A>T | A:523 | (-28.19, -13.81, -151.99) |
| 5:150496689 | rs367708325 | Q>R | A:524 | (-28.81, -10.67, -155.36) |
| 5:150490201 | A>V | A:526 | (-31.44, -15.69, -154.79) | |
| 5:150489405 | E>D | A:531 | (-37.79, -12.51, -155.69) | |
| 5:150489402 | I>M | A:532 | (-39.59, -12.57, -161.23) | |
| 5:150489400 | A>E | A:533 | (-41.60, -9.13, -160.90) | |
| 5:150489401 | A>T | A:533 | (-41.60, -9.13, -160.90) | |
| 5:150489392 | P>T | A:536 | (-40.41, -10.18, -165.40) | |
| 5:150489373 | rs547736664 | S>C | A:542 | (-33.91, -19.93, -162.53) |
| 5:150489367 | E>G | A:544 | (-28.26, -19.15, -164.93) | |
| 5:150489361 | rs182063506 | R>H | A:546 | (-24.14, -17.83, -160.46) |
| 5:150489352 | rs540546583 | T>M | A:549 | (-22.54, -23.60, -157.73) |
| 5:150489341 | rs150607991 | T>A | A:553 | (-20.02, -25.58, -154.09) |
| 5:150489337 | rs201769474 | R>Q | A:554 | (-20.24, -21.42, -151.90) |
| 5:150489338 | rs376978616 | R>W | A:554 | (-20.24, -21.42, -151.90) |
| 5:150489328 | rs199644640 | P>L | A:557 | (-20.40, -22.16, -142.69) |
| 5:150489326 | H>Y | A:558 | (-20.88, -18.75, -147.13) | |
| 5:150489319 | R>Q | A:560 | (-24.96, -21.84, -141.71) | |
| 5:150488107 | F>L | A:563 | (-29.29, -19.08, -146.56) | |
| 5:150488108 | F>Y | A:563 | (-29.29, -19.08, -146.56) | |
| 5:150488100 | F>I | A:566 | (-32.49, -14.07, -148.96) | |
| 5:150488094 | K>Q | A:568 | (-30.78, -8.39, -143.65) | |
| 5:150488087 | T>I | A:570 | (-35.12, -10.52, -150.11) | |
| 5:150488079 | rs368344684 COSM3612635 COSM3612634 |
D>N | A:573 | (-36.53, -18.35, -145.94) |
| 5:150488076 | rs547473117 | V>M | A:574 | (-34.29, -19.84, -149.05) |
| 5:150488051 | M>T | A:582 | (-37.84, -24.33, -157.28) | |
| 5:150488040 | rs201027048 COSM737200 COSM737199 |
V>I | A:586 | (-35.30, -29.37, -158.18) |
| 5:150488036 | R>T | A:587 | (-39.33, -28.93, -154.50) | |
| 5:150484843 | P>R | A:601 | (-29.99, -33.50, -136.86) | |
| 5:150484844 | P>S | A:601 | (-29.99, -33.50, -136.86) | |
| 5:150484826 | K>Q | A:607 | (-36.68, -38.47, -143.76) | |
| 5:150484817 | K>E | A:610 | (-42.21, -38.83, -144.31) | |
| 5:150484810 | COSM1064497 COSM1064496 |
M>T | A:612 | (-43.30, -44.07, -138.89) |
| 5:150483243 | T>I | A:617 | (-43.97, -48.50, -142.77) | |
| 5:150483240 | D>G | A:618 | (-40.52, -46.28, -145.57) | |
| 5:150483233 | COSM1739168 COSM1739167 |
K>N | A:620 | (-36.26, -48.87, -147.70) |
| 5:150483235 | rs565939880 | K>E | A:620 | (-36.26, -48.87, -147.70) |
| 5:150483217 | M>V | A:626 | (-31.83, -46.20, -137.42) | |
| 5:150483207 | COSM449125 COSM449124 |
R>H | A:629 | (-26.64, -40.69, -139.14) |
| 5:150483208 | R>C | A:629 | (-26.64, -40.69, -139.14) | |
| 5:150483202 | E>K | A:631 | (-21.78, -45.10, -134.92) | |
| 5:150483198 | I>T | A:632 | (-22.90, -39.90, -136.18) | |
| 5:150483187 | N>D | A:636 | (-28.50, -35.30, -131.72) | |
| 5:150483168 | I>T | A:642 | (-39.15, -35.52, -128.48) | |
| 5:150483166 | COSM3776443 COSM3776442 |
E>Q | A:643 | (-38.98, -30.57, -129.18) |
| 5:150481056 | G>R | A:659 | (-40.99, -58.29, -134.05) | |
| 5:150481029 | rs539676124 | L>F | A:668 | (-29.91, -49.65, -132.80) |
| 5:150481022 | rs200735957 | G>D | A:670 | (-31.94, -45.08, -127.76) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:150516837 | COSM3715147 | R>W | A:122 | (-51.98, -15.54, -121.43) |
| 5:150515821 | COSM1619860 | L>R | A:162 | (-50.91, -15.62, -111.24) |
| 5:150512679 | COSM1435271 | R>C | A:206 | (-35.76, -9.46, -114.46) |
| 5:150512099 | COSM1435270 | P>Q | A:225 | (-28.89, -22.30, -126.04) |
| 5:150502566 | COSM3244619 | D>G | A:382 | (-31.02, -67.21, -131.82) |
| 5:150502564 | COSM272231 | E>K | A:383 | (-33.52, -64.55, -134.20) |
| 5:150484851 | COSM3429160 | K>N | A:598 | (-31.29, -24.91, -140.72) |
| 5:150484825 | COSM1435260 | K>T | A:607 | (-36.68, -38.47, -143.76) |