General Structure Information
| PDB ID | 3o8y |
| HGNC Gene Label(s) | ALOX5 |
| Structure Name | stable-5-lipoxygenase |
| Resolution | 2.39Å |
| Reference | AUTH N.C.GILBERT,S.G.BARTLETT,M.T.WAIGHT,D.B.NEAU,W.E.BOEGLIN,AUTH 2 A.R.BRASH,M.E.NEWCOMERTITL THE STRUCTURE OF HUMAN 5-LIPOXYGENASE.REF SCIENCE V. 331 217 2011REFN ISSN 0036-8075PMID 21233389DOI 10.1126/SCIENCE.1197203 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 670 |
| Number Of SNVs | 178 |
| Number Of Permutations | 78465 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.169 |
| p-value | 0.01 |
COSMIC
| Number Of Residues | 670 |
| Number Of SNVs | 18 |
| Number Of Permutations | 11164 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.033 |
| p-value | 0.767 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 178 |
| Number Of COSMIC SNVs | 17 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | -0.014 |
| p-value | 0.625 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:45869731 | P>S | B:4 | (-14.02, 93.08, 51.19) | |
| 10:45869753 | A>V | B:11 | (-12.63, 86.88, 28.03) | |
| 10:45869791 | I>V | B:24 | (-21.92, 81.87, 33.43) | |
| 10:45869803 | L>F | B:28 | (-12.94, 82.04, 43.52) | |
| 10:45869807 | V>E | B:29 | (-10.94, 76.36, 44.61) | |
| 10:45869813 | S>L | B:31 | (-5.32, 77.21, 50.06) | |
| 10:45869821 | C>R | B:34 | (-14.09, 77.01, 48.24) | |
| 10:45869822 | C>Y | B:34 | (-14.09, 77.01, 48.24) | |
| 10:45869825 | rs532658793 | S>T | B:35 | (-16.05, 80.48, 47.16) |
| 10:45869876 | A>V | B:49 | (-17.25, 90.41, 25.15) | |
| 10:45877936 | D>E | B:51 | (-17.63, 90.81, 31.03) | |
| 10:45877943 | D>N | B:54 | (-17.10, 93.65, 41.80) | |
| 10:45877946 | rs139425864 | V>M | B:55 | (-16.87, 88.53, 43.22) |
| 10:45877956 | D>G | B:58 | (-18.27, 84.51, 52.77) | |
| 10:45877958 | E>K | B:59 | (-14.74, 82.67, 53.74) | |
| 10:45877967 | G>C | B:62 | (-6.33, 82.50, 50.48) | |
| 10:45877970 | rs143978950 | E>K | B:63 | (-2.80, 81.17, 47.00) |
| 10:45877998 | R>H | B:72 | (-26.80, 76.23, 36.72) | |
| 10:45878013 | N>S | B:77 | (-27.97, 74.70, 24.98) | |
| 10:45878014 | N>K | B:77 | (-27.97, 74.70, 24.98) | |
| 10:45878016 | D>A | B:78 | (-26.12, 79.13, 23.89) | |
| 10:45878019 | D>G | B:79 | (-22.36, 76.54, 22.97) | |
| 10:45878036 | I>V | B:85 | (-11.50, 83.59, 34.11) | |
| 10:45878040 | T>M | B:86 | (-8.17, 87.61, 34.76) | |
| 10:45878049 | rs551364951 COSM1505458 |
T>M | B:89 | (-6.64, 88.75, 44.57) |
| 10:45878051 | P>T | B:90 | (-8.61, 90.47, 48.09) | |
| 10:45878067 | I>N | B:95 | (-4.16, 85.10, 39.75) | |
| 10:45878069 | E>K | B:96 | (-4.09, 84.99, 33.50) | |
| 10:45878082 | Y>C | B:100 | (-7.89, 80.15, 25.36) | |
| 10:45878096 | COSM3978521 | G>S | B:105 | (-23.62, 72.71, 30.04) |
| 10:45878100 | rs373380498 | D>A | B:106 | (-22.51, 68.91, 29.31) |
| 10:45878105 | COSM342079 | E>K | B:108 | (-17.82, 72.13, 36.68) |
| 10:45878121 | COSM1627503 | D>A | B:113 | (-2.80, 79.63, 37.37) |
| 10:45878126 | COSM918268 | R>C | B:115 | (2.15, 79.85, 37.91) |
| 10:45878127 | R>H | B:115 | (2.15, 79.85, 37.91) | |
| 10:45891307 | K>N | B:117 | (3.26, 74.49, 37.72) | |
| 10:45891332 | I>V | B:126 | (-6.59, 71.79, 46.34) | |
| 10:45891344 | H>Y | B:130 | (-7.64, 69.90, 38.54) | |
| 10:45891346 | rs372437573 | H>Q | B:130 | (-7.64, 69.90, 38.54) |
| 10:45891348 | COSM918269 | R>Q | B:131 | (-1.67, 67.74, 36.86) |
| 10:45891350 | rs187523060 | R>C | B:132 | (-6.25, 61.02, 40.02) |
| 10:45891351 | rs148401371 | R>H | B:132 | (-6.25, 61.02, 40.02) |
| 10:45891359 | COSM918270 | L>M | B:135 | (-4.80, 63.42, 32.83) |
| 10:45891368 | rs199726828 | R>W | B:138 | (-7.78, 65.91, 28.60) |
| 10:45891375 | K>R | B:140 | (-14.30, 58.96, 30.52) | |
| 10:45891384 | R>Q | B:143 | (-11.69, 56.23, 24.63) | |
| 10:45907676 | rs560031203 COSM278791 |
D>H | B:156 | (-13.37, 57.21, 18.98) |
| 10:45907690 | H>Q | B:160 | (-17.29, 67.50, 12.83) | |
| 10:45907694 | D>Y | B:162 | (-19.64, 62.63, 17.07) | |
| 10:45907704 | R>H | B:165 | (-17.91, 72.59, 20.17) | |
| 10:45907719 | D>V | B:170 | (-15.18, 77.59, 15.04) | |
| 10:45907752 | Y>S | B:181 | (-14.11, 69.81, -2.82) | |
| 10:45907761 | A>V | B:184 | (-14.74, 75.61, -5.57) | |
| 10:45919512 | R>H | B:192 | (-20.27, 74.54, -17.72) | |
| 10:45919517 | M>V | B:194 | (-20.87, 69.19, -11.33) | |
| 10:45919524 | M>R | B:196 | (-20.48, 66.55, -18.23) | |
| 10:45919535 | S>T | B:200 | (-13.58, 63.52, -23.69) | |
| 10:45919536 | S>C | B:200 | (-13.58, 63.52, -23.69) | |
| 10:45919550 | A>T | B:205 | (-7.58, 74.01, -27.43) | |
| 10:45919553 | COSM388924 | D>N | B:206 | (-11.36, 72.40, -25.41) |
| 10:45919558 | F>L | B:207 | (-8.47, 72.06, -19.96) | |
| 10:45919571 | V>I | B:212 | (-7.26, 80.76, -20.21) | |
| 10:45919574 | K>E | B:213 | (-12.51, 81.35, -18.38) | |
| 10:45919576 | K>N | B:213 | (-12.51, 81.35, -18.38) | |
| 10:45919584 | N>S | B:216 | (-2.58, 80.87, -10.55) | |
| 10:45919586 | T>A | B:217 | (1.62, 83.34, -11.42) | |
| 10:45920411 | R>Q | B:221 | (5.71, 80.26, -15.74) | |
| 10:45920416 | M>V | B:223 | (-0.74, 77.01, -19.92) | |
| 10:45920418 | M>I | B:223 | (-0.74, 77.01, -19.92) | |
| 10:45920420 | N>S | B:224 | (2.88, 78.46, -21.19) | |
| 10:45920440 | M>V | B:231 | (8.61, 72.86, -15.91) | |
| 10:45920441 | M>R | B:231 | (8.61, 72.86, -15.91) | |
| 10:45920444 | F>C | B:232 | (9.06, 65.86, -15.85) | |
| 10:45920447 | G>V | B:233 | (12.31, 67.84, -13.53) | |
| 10:45920450 | Y>C | B:234 | (11.61, 73.29, -11.12) | |
| 10:45920458 | L>V | B:237 | (14.33, 69.43, -7.01) | |
| 10:45920474 | P>L | B:242 | (9.07, 68.39, -3.13) | |
| 10:45920483 | I>N | B:245 | (14.39, 63.22, -6.49) | |
| 10:45920485 | rs146711717 | R>W | B:246 | (16.05, 58.18, -3.21) |
| 10:45920489 | COSM216253 | R>H | B:247 | (23.02, 60.74, -4.48) |
| 10:45920518 | COSM918274 | V>L | B:257 | (19.01, 52.13, -18.68) |
| 10:45920525 | COSM230659 | T>M | B:259 | (25.75, 54.38, -22.16) |
| 10:45920530 | M>L | B:261 | (18.83, 53.25, -24.11) | |
| 10:45920536 | E>K | B:263 | (24.29, 58.24, -26.22) | |
| 10:45920538 | E>D | B:263 | (24.29, 58.24, -26.22) | |
| 10:45920539 | C>R | B:264 | (21.62, 61.92, -26.73) | |
| 10:45920552 | R>Q | B:268 | (28.92, 65.63, -17.30) | |
| 10:45920561 | S>I | B:271 | (29.54, 55.98, -19.21) | |
| 10:45920566 | E>K | B:273 | (27.50, 52.79, -15.94) | |
| 10:45924073 | N>T | B:280 | (25.94, 63.29, -12.16) | |
| 10:45924084 | COSM1347871 | V>M | B:284 | (11.45, 59.38, -8.93) |
| 10:45924108 | rs150216824 | I>V | B:292 | (-2.29, 50.14, -5.42) |
| 10:45924111 | COSM918275 | D>N | B:293 | (-6.67, 48.07, -6.56) |
| 10:45924128 | D>E | B:298 | (-17.29, 54.36, -13.08) | |
| 10:45924136 | rs201471525 | T>I | B:301 | (-14.65, 55.22, -16.82) |
| 10:45924150 | A>T | B:306 | (1.37, 53.25, -13.54) | |
| 10:45924177 | N>H | B:315 | (22.13, 69.16, -17.14) | |
| 10:45924196 | V>D | B:321 | (16.92, 66.81, -17.08) | |
| 10:45924201 | I>V | B:323 | (18.04, 60.49, -18.74) | |
| 10:45924202 | I>T | B:323 | (18.04, 60.49, -18.74) | |
| 10:45935882 | rs138855994 | N>S | B:328 | (5.14, 49.13, -15.52) |
| 10:45935897 | D>G | B:333 | (9.12, 42.95, -24.68) | |
| 10:45935899 | E>K | B:334 | (5.02, 43.99, -23.14) | |
| 10:45935905 | rs28395860 | P>S | B:336 | (8.24, 50.01, -23.41) |
| 10:45935918 | P>L | B:340 | (14.52, 61.84, -24.28) | |
| 10:45935945 | L>S | B:349 | (1.64, 59.09, -22.95) | |
| 10:45935951 | K>T | B:351 | (7.52, 63.66, -19.99) | |
| 10:45935959 | V>M | B:354 | (6.15, 59.81, -14.28) | |
| 10:45935962 | R>C | B:355 | (3.86, 64.91, -12.99) | |
| 10:45935963 | R>H | B:355 | (3.86, 64.91, -12.99) | |
| 10:45935977 | H>D | B:360 | (-1.93, 58.91, -7.88) | |
| 10:45935980 | V>I | B:361 | (2.73, 58.90, -4.18) | |
| 10:45935989 | T>A | B:364 | (-2.62, 58.80, -0.30) | |
| 10:45936011 | T>I | B:371 | (1.37, 65.68, 6.80) | |
| 10:45936014 | H>L | B:372 | (-3.60, 65.57, 7.23) | |
| 10:45936022 | S>T | B:375 | (-0.46, 65.70, 12.68) | |
| 10:45936035 | G>A | B:379 | (-2.80, 65.41, 18.89) | |
| 10:45936041 | rs143675525 | A>V | B:381 | (-1.36, 61.68, 22.25) |
| 10:45936046 | Y>H | B:383 | (-6.22, 67.14, 23.27) | |
| 10:45936052 | Q>K | B:385 | (-1.65, 61.02, 27.95) | |
| 10:45936805 | H>R | B:399 | (1.52, 74.01, 16.50) | |
| 10:45936840 | R>C | B:411 | (-11.31, 60.14, 9.15) | |
| 10:45936841 | R>P | B:411 | (-11.31, 60.14, 9.15) | |
| 10:45936858 | E>K | B:417 | (-16.66, 53.20, 1.34) | |
| 10:45936864 | G>S | B:419 | (-16.50, 59.52, -1.21) | |
| 10:45938489 | N>D | B:425 | (-9.04, 60.41, -7.48) | |
| 10:45938491 | rs537072496 | N>K | B:425 | (-9.04, 60.41, -7.48) |
| 10:45938493 | A>D | B:426 | (-7.13, 56.47, -10.31) | |
| 10:45938508 | G>E | B:431 | (-6.52, 51.93, -3.59) | |
| 10:45938510 | H>N | B:432 | (-7.53, 55.47, -1.10) | |
| 10:45938513 | COSM1244862 | V>M | B:433 | (-7.34, 52.18, 2.02) |
| 10:45938516 | Q>K | B:434 | (-4.39, 48.82, -1.18) | |
| 10:45938517 | Q>R | B:434 | (-4.39, 48.82, -1.18) | |
| 10:45938531 | A>T | B:439 | (3.18, 53.60, 3.20) | |
| 10:45938532 | A>V | B:439 | (3.18, 53.60, 3.20) | |
| 10:45938535 | M>R | B:440 | (1.85, 52.63, 8.60) | |
| 10:45938552 | rs28395869 | A>S | B:446 | (14.08, 58.90, 10.90) |
| 10:45938555 | rs375848132 | S>P | B:447 | (11.24, 59.72, 7.86) |
| 10:45938567 | P>S | B:451 | (17.58, 67.48, 8.98) | |
| 10:45938578 | rs201465951 | I>M | B:454 | (16.94, 66.16, 2.73) |
| 10:45938579 | K>E | B:455 | (22.61, 63.63, 5.40) | |
| 10:45938582 | A>T | B:456 | (18.38, 59.52, 3.68) | |
| 10:45938618 | Y>H | B:468 | (15.98, 70.24, -3.21) | |
| 10:45938633 | COSM3437922 | D>N | B:473 | (13.55, 76.89, 2.44) |
| 10:45938636 | G>R | B:474 | (13.17, 73.54, 5.00) | |
| 10:45938639 | L>F | B:475 | (17.61, 72.34, 6.11) | |
| 10:45938640 | L>H | B:475 | (17.61, 72.34, 6.11) | |
| 10:45938651 | E>K | B:479 | (17.49, 74.99, 12.74) | |
| 10:45938661 | R>K | B:482 | (16.18, 71.10, 17.37) | |
| 10:45938867 | F>L | B:484 | (10.29, 77.99, 20.04) | |
| 10:45938874 | E>K | B:487 | (14.47, 78.49, 24.27) | |
| 10:45938875 | E>V | B:487 | (14.47, 78.49, 24.27) | |
| 10:45938886 | I>V | B:491 | (12.08, 77.99, 30.05) | |
| 10:45938898 | G>S | B:495 | (17.39, 68.41, 33.24) | |
| 10:45938899 | G>D | B:495 | (17.39, 68.41, 33.24) | |
| 10:45938905 | Q>R | B:497 | (16.78, 63.14, 36.49) | |
| 10:45938907 | V>M | B:498 | (13.38, 66.89, 35.23) | |
| 10:45938910 | V>M | B:499 | (13.05, 65.12, 30.32) | |
| 10:45938917 | rs373344486 | E>A | B:501 | (11.80, 61.57, 36.42) |
| 10:45938926 | E>G | B:504 | (2.11, 63.49, 32.44) | |
| 10:45938929 | L>P | B:505 | (7.01, 63.77, 28.34) | |
| 10:45938944 | N>S | B:510 | (4.17, 55.08, 25.40) | |
| 10:45938946 | COSM3437923 | D>N | B:511 | (-0.08, 57.06, 23.68) |
| 10:45938953 | Y>S | B:513 | (5.98, 52.97, 20.10) | |
| 10:45938964 | M>L | B:517 | (2.71, 55.04, 15.01) | |
| 10:45938965 | M>R | B:517 | (2.71, 55.04, 15.01) | |
| 10:45938970 | G>C | B:519 | (3.63, 49.58, 18.21) | |
| 10:45938971 | G>D | B:519 | (3.63, 49.58, 18.21) | |
| 10:45938973 | COSM4014266 | R>C | B:520 | (5.34, 49.73, 12.93) |
| 10:45938976 | K>E | B:521 | (11.27, 46.58, 16.81) | |
| 10:45938977 | K>M | B:521 | (11.27, 46.58, 16.81) | |
| 10:45939247 | COSM252338 | A>S | B:548 | (6.55, 73.48, 7.67) |
| 10:45939619 | rs143439556 | P>L | B:576 | (2.12, 53.36, -23.38) |
| 10:45939631 | G>D | B:580 | (5.19, 54.50, -32.25) | |
| 10:45939633 | V>M | B:581 | (1.22, 53.11, -31.47) | |
| 10:45939661 | rs146768497 | T>M | B:590 | (-5.56, 58.76, -21.80) |
| 10:45939675 | G>S | B:595 | (-16.15, 65.61, -15.07) | |
| 10:45939678 | R>G | B:596 | (-13.67, 61.43, -13.77) | |
| 10:45939685 | C>Y | B:598 | (-14.61, 69.72, -12.74) | |
| 10:45939731 | N>K | B:613 | (-8.94, 85.33, 10.32) | |
| 10:45940966 | rs559240229 | G>A | B:618 | (4.30, 81.80, 15.56) |
| 10:45940968 | M>V | B:619 | (0.81, 84.46, 14.04) | |
| 10:45940969 | COSM539001 | M>T | B:619 | (0.81, 84.46, 14.04) |
| 10:45940972 | Y>F | B:620 | (1.84, 81.04, 19.22) | |
| 10:45940988 | F>L | B:625 | (3.09, 79.10, 27.35) | |
| 10:45940992 | E>K | B:627 | (5.23, 82.34, 32.46) | |
| 10:45941005 | K>R | B:631 | (4.91, 86.16, 27.21) | |
| 10:45941007 | E>K | B:632 | (11.18, 86.76, 26.30) | |
| 10:45941020 | R>Q | B:636 | (14.43, 85.07, 21.83) | |
| 10:45941025 | R>C | B:638 | (6.84, 85.77, 17.46) | |
| 10:45941026 | COSM3415053 | R>H | B:638 | (6.84, 85.77, 17.46) |
| 10:45941044 | I>T | B:644 | (13.71, 82.09, 7.80) | |
| 10:45941050 | S>I | B:646 | (13.94, 88.24, 4.45) | |
| 10:45941058 | A>T | B:649 | (12.32, 87.12, -0.26) | |
| 10:45941061 | E>K | B:650 | (17.13, 88.27, -1.26) | |
| 10:45941065 | COSM1182584 | R>H | B:651 | (15.60, 81.91, -2.68) |
| 10:45941076 | rs140481567 | K>Q | B:655 | (14.46, 81.84, -8.25) |
| 10:45941080 | Q>L | B:656 | (13.49, 81.31, -14.14) | |
| 10:45941091 | Y>H | B:660 | (5.68, 81.09, -3.07) | |
| 10:45941109 | R>W | B:666 | (2.59, 82.28, 1.80) | |
| 10:45941110 | COSM4014269 | R>Q | B:666 | (2.59, 82.28, 1.80) |
| 10:45941116 | P>L | B:668 | (-0.26, 77.23, 7.96) | |
| 10:45941130 | I>V | B:673 | (-7.10, 73.05, 4.47) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:45877960 | COSM1957783 | E>D | B:59 | (-14.74, 82.67, 53.74) |
| 10:45877970 | COSM3415050 | E>K | B:63 | (-2.80, 81.17, 47.00) |
| 10:45878049 | COSM1505458 | T>M | B:89 | (-6.64, 88.75, 44.57) |
| 10:45878069 | COSM3726890 | E>K | B:96 | (-4.09, 84.99, 33.50) |
| 10:45878099 | COSM1702290 | D>N | B:106 | (-22.51, 68.91, 29.31) |
| 10:45878105 | COSM342079 | E>K | B:108 | (-17.82, 72.13, 36.68) |
| 10:45891350 | COSM1603461 | R>S | B:132 | (-6.25, 61.02, 40.02) |
| 10:45891369 | COSM1702291 | R>Q | B:138 | (-7.78, 65.91, 28.60) |
| 10:45907676 | COSM278791 | D>N | B:156 | (-13.37, 57.21, 18.98) |
| 10:45907730 | COSM3437915 | G>R | B:174 | (-16.72, 75.76, 8.54) |
| 10:45920488 | COSM84003 | R>C | B:247 | (23.02, 60.74, -4.48) |
| 10:45920489 | COSM216253 | R>H | B:247 | (23.02, 60.74, -4.48) |
| 10:45924111 | COSM918275 | D>N | B:293 | (-6.67, 48.07, -6.56) |
| 10:45935921 | COSM918277 | S>L | B:341 | (15.20, 59.94, -28.30) |
| 10:45936008 | COSM189247 | R>Q | B:370 | (4.99, 60.67, 5.53) |
| 10:45938582 | COSM1957810 | A>T | B:456 | (18.38, 59.52, 3.68) |
| 10:45941026 | COSM3415053 | R>H | B:638 | (6.84, 85.77, 17.46) |
| 10:45941065 | COSM1182584 | R>H | B:651 | (15.60, 81.91, -2.68) |
| 10:45941115 | COSM1347876 | P>S | B:668 | (-0.26, 77.23, 7.96) |