General Structure Information
| PDB ID | 2ckj |
| HGNC Gene Label(s) | XDH |
| Structure Name | human milk xanthine oxidoreductase |
| Resolution | 3.59Å |
| Reference | AUTH A.R.PEARSON,B.L.J.GODBER,R.EISENTHAL,G.L.TAYLOR,AUTH 2 R.HARRISONTITL HUMAN MILK XANTHINE DEHYDROGENASE IS INCOMPLETELYTITL 2 CONVERTED TO THE OXIDASE FORM IN THE ABSENCE OFTITL 3 PROTEOLYSIS. A STRUCTURAL EXPLANATION.REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 1264 |
| Number Of SNVs | 398 |
| Number Of Permutations | 94182 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.006 |
| p-value | 0.743 |
COSMIC

Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 398 |
| Number Of COSMIC SNVs | 27 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.009 |
| p-value | 0.278 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:31637526 | rs144150776 | A>T | A:3 | (90.49, 131.86, 133.46) |
| 2:31637513 | V>G | A:7 | (84.54, 124.46, 127.31) | |
| 2:31637500 | rs201779309 | N>K | A:11 | (77.82, 112.82, 122.97) |
| 2:31628817 | N>S | A:19 | (82.57, 127.00, 139.05) | |
| 2:31628791 | A>T | A:28 | (81.14, 111.74, 137.47) | |
| 2:31628787 | Y>C | A:29 | (80.35, 116.51, 134.66) | |
| 2:31628788 | Y>H | A:29 | (80.35, 116.51, 134.66) | |
| 2:31628778 | R>I | A:32 | (77.67, 111.50, 140.00) | |
| 2:31626004 | L>Q | A:36 | (75.15, 110.01, 130.57) | |
| 2:31626000 | S>R | A:37 | (74.48, 105.61, 132.42) | |
| 2:31625984 | C>S | A:43 | (88.61, 99.77, 139.56) | |
| 2:31625977 | E>G | A:45 | (93.12, 100.43, 140.26) | |
| 2:31625966 | G>R | A:49 | (87.83, 99.26, 131.37) | |
| 2:31625932 | R>H | A:60 | (96.72, 124.26, 117.45) | |
| 2:31625929 | L>P | A:61 | (102.11, 120.76, 115.73) | |
| 2:31625923 | rs530688886 | N>S | A:63 | (96.60, 120.89, 110.79) |
| 2:31625919 | rs182317768 | K>N | A:64 | (94.87, 115.50, 111.91) |
| 2:31625914 | V>A | A:66 | (93.46, 113.22, 116.91) | |
| 2:31625915 | V>I | A:66 | (93.46, 113.22, 116.91) | |
| 2:31624192 | H>P | A:67 | (90.13, 110.24, 116.86) | |
| 2:31624189 | F>S | A:68 | (92.65, 109.68, 122.30) | |
| 2:31624180 | N>S | A:71 | (90.71, 105.47, 131.46) | |
| 2:31624168 | A>V | A:75 | (90.31, 111.93, 133.96) | |
| 2:31624169 | A>P | A:75 | (90.31, 111.93, 133.96) | |
| 2:31624166 | P>S | A:76 | (91.11, 115.16, 135.11) | |
| 2:31624159 | C>F | A:78 | (90.68, 120.53, 134.30) | |
| 2:31624125 | E>D | A:89 | (75.29, 106.73, 125.56) | |
| 2:31624112 | T>P | A:94 | (67.55, 100.34, 120.95) | |
| 2:31624105 | rs374226297 | T>M | A:96 | (67.64, 104.49, 116.56) |
| 2:31624101 | R>S | A:97 | (69.51, 102.31, 112.49) | |
| 2:31624103 | R>W | A:97 | (69.51, 102.31, 112.49) | |
| 2:31624091 | V>L | A:101 | (80.47, 97.39, 117.27) | |
| 2:31624088 | Q>K | A:102 | (76.35, 98.34, 119.50) | |
| 2:31621553 | rs558892168 | K>E | A:107 | (73.19, 89.12, 116.79) |
| 2:31621544 | rs147286954 | G>S | A:110 | (79.22, 88.51, 124.44) |
| 2:31621540 | COSM3581139 | S>Y | A:111 | (76.80, 89.71, 126.57) |
| 2:31621532 | COSM1494918 | G>R | A:114 | (76.95, 93.22, 130.80) |
| 2:31621523 | rs556797607 | T>S | A:117 | (79.81, 95.39, 127.22) |
| 2:31621517 | G>S | A:119 | (84.06, 99.05, 127.07) | |
| 2:31621511 | V>I | A:121 | (81.98, 98.61, 122.52) | |
| 2:31621508 | M>L | A:122 | (84.08, 102.44, 123.07) | |
| 2:31621501 | rs547147775 | M>K | A:124 | (86.41, 97.71, 118.37) |
| 2:31621498 | Y>C | A:125 | (83.71, 103.52, 117.69) | |
| 2:31621486 | R>Q | A:129 | (86.59, 106.89, 113.90) | |
| 2:31621487 | rs145064943 | R>W | A:129 | (86.59, 106.89, 113.90) |
| 2:31621478 | P>S | A:132 | (89.48, 101.17, 108.63) | |
| 2:31621475 | rs45447191 | E>K | A:133 | (90.18, 96.94, 106.58) |
| 2:31621471 | rs377748577 | P>L | A:134 | (91.63, 95.63, 111.00) |
| 2:31621460 | COSM3581138 | E>Q | A:138 | (95.80, 95.44, 114.70) |
| 2:31621455 | I>M | A:139 | (91.30, 93.12, 116.98) | |
| 2:31621456 | I>T | A:139 | (91.30, 93.12, 116.98) | |
| 2:31621443 | F>L | A:143 | (90.22, 94.06, 123.56) | |
| 2:31621441 | Q>P | A:144 | (96.32, 94.53, 126.71) | |
| 2:31620583 | rs148108999 | R>H | A:149 | (85.44, 86.58, 136.33) |
| 2:31620584 | rs72549369 | R>C | A:149 | (85.44, 86.58, 136.33) |
| 2:31620574 | G>V | A:152 | (85.93, 83.67, 128.01) | |
| 2:31620560 | L>F | A:157 | (87.80, 87.58, 119.68) | |
| 2:31620547 | rs200810102 | R>Q | A:161 | (87.37, 86.39, 113.10) |
| 2:31620548 | rs548839485 | R>W | A:161 | (87.37, 86.39, 113.10) |
| 2:31620544 | T>N | A:162 | (83.75, 89.90, 111.26) | |
| 2:31610711 | rs201332711 | P>L | A:206 | (82.42, 104.60, 107.54) |
| 2:31610708 | T>I | A:207 | (80.20, 107.86, 105.93) | |
| 2:31609411 | D>G | A:221 | (92.18, 130.26, 114.84) | |
| 2:31609403 | rs147533056 | R>W | A:224 | (96.42, 127.60, 123.44) |
| 2:31609395 | Q>H | A:226 | (97.51, 131.01, 131.99) | |
| 2:31609390 | COSM3426390 | R>Q | A:228 | (93.43, 130.45, 138.58) |
| 2:31609376 | rs149487595 | R>C | A:233 | (90.67, 119.86, 149.05) |
| 2:31609369 | rs45469499 | T>M | A:235 | (94.47, 125.44, 142.66) |
| 2:31609366 | W>S | A:236 | (94.53, 122.14, 136.94) | |
| 2:31609362 | rs202199893 | I>M | A:237 | (97.58, 126.55, 136.87) |
| 2:31609358 | A>S | A:239 | (100.20, 126.19, 131.02) | |
| 2:31609348 | L>R | A:242 | (108.43, 126.94, 128.56) | |
| 2:31609349 | L>F | A:242 | (108.43, 126.94, 128.56) | |
| 2:31609326 | K>N | A:249 | (108.07, 125.36, 139.58) | |
| 2:31609303 | L>R | A:257 | (104.10, 118.89, 137.33) | |
| 2:31609304 | L>V | A:257 | (104.10, 118.89, 137.33) | |
| 2:31609288 | T>M | A:262 | (98.52, 107.66, 135.65) | |
| 2:31609280 | rs369387791 | G>C | A:265 | (95.48, 109.53, 141.11) |
| 2:31606710 | I>S | A:266 | (96.54, 106.12, 142.28) | |
| 2:31606704 | M>K | A:268 | (94.87, 112.24, 145.12) | |
| 2:31606697 | F>L | A:270 | (93.67, 104.33, 146.43) | |
| 2:31606680 | P>L | A:276 | (97.59, 122.11, 147.18) | |
| 2:31606663 | A>P | A:282 | (100.80, 119.79, 128.18) | |
| 2:31606655 | I>M | A:284 | (104.12, 123.32, 126.49) | |
| 2:31606651 | rs375277410 | E>Q | A:286 | (108.82, 123.65, 123.68) |
| 2:31606648 | rs138674014 | L>V | A:287 | (107.16, 119.50, 126.75) |
| 2:31606633 | H>N | A:292 | (114.56, 112.47, 113.82) | |
| 2:31606624 | rs142335345 | D>N | A:295 | (123.46, 110.73, 117.91) |
| 2:31606621 | G>S | A:296 | (119.22, 110.09, 118.19) | |
| 2:31606000 | A>D | A:302 | (104.66, 115.01, 127.36) | |
| 2:31605988 | S>T | A:306 | (101.33, 106.00, 122.39) | |
| 2:31605982 | V>G | A:308 | (107.35, 106.55, 121.96) | |
| 2:31605979 | E>G | A:309 | (104.97, 102.06, 120.65) | |
| 2:31605971 | COSM574937 | L>V | A:312 | (110.52, 103.63, 117.99) |
| 2:31605958 | V>A | A:316 | (112.80, 99.56, 113.37) | |
| 2:31605946 | rs200384255 | P>R | A:320 | (119.96, 100.17, 109.36) |
| 2:31605928 | V>G | A:326 | (118.24, 100.50, 122.10) | |
| 2:31605920 | G>R | A:329 | (113.73, 97.30, 123.87) | |
| 2:31605901 | rs201810251 | R>H | A:335 | (104.78, 93.27, 123.36) |
| 2:31605902 | R>C | A:335 | (104.78, 93.27, 123.36) | |
| 2:31605893 | A>P | A:338 | (99.37, 98.07, 130.10) | |
| 2:31605868 | rs142388231 | A>V | A:346 | (101.21, 108.30, 129.75) |
| 2:31604591 | S>F | A:347 | (104.28, 110.44, 130.19) | |
| 2:31604589 | rs192453952 | V>I | A:348 | (108.04, 109.36, 129.08) |
| 2:31604585 | COSM1690407 | G>A | A:349 | (108.18, 111.61, 131.98) |
| 2:31604579 | N>T | A:351 | (107.79, 106.28, 134.09) | |
| 2:31604576 | I>S | A:352 | (111.44, 108.94, 133.97) | |
| 2:31604553 | D>N | A:360 | (109.39, 98.27, 133.26) | |
| 2:31604541 | V>M | A:364 | (116.33, 100.33, 129.57) | |
| 2:31604534 | M>T | A:366 | (120.32, 103.08, 133.97) | |
| 2:31604535 | M>V | A:366 | (120.32, 103.08, 133.97) | |
| 2:31604527 | S>R | A:368 | (121.14, 102.97, 127.41) | |
| 2:31604528 | S>I | A:368 | (121.14, 102.97, 127.41) | |
| 2:31604525 | G>E | A:369 | (122.55, 105.65, 128.56) | |
| 2:31604514 | T>A | A:373 | (117.21, 118.01, 128.88) | |
| 2:31604502 | R>G | A:377 | (113.83, 131.94, 136.35) | |
| 2:31602827 | V>A | A:383 | (122.36, 114.10, 132.77) | |
| 2:31602805 | rs146169510 | F>L | A:390 | (117.28, 106.85, 140.28) |
| 2:31602791 | rs34929837 | K>M | A:395 | (114.39, 111.00, 146.36) |
| 2:31602776 | rs140879910 | P>L | A:400 | (112.88, 121.84, 143.65) |
| 2:31602769 | E>D | A:402 | (115.45, 121.49, 138.01) | |
| 2:31602767 | COSM270561 | I>T | A:403 | (111.37, 120.98, 134.40) |
| 2:31602765 | rs372033714 | L>M | A:404 | (112.19, 116.64, 132.35) |
| 2:31602750 | I>F | A:409 | (116.43, 106.88, 122.89) | |
| 2:31602743 | Y>C | A:411 | (120.76, 106.23, 116.49) | |
| 2:31600090 | S>L | A:419 | (118.36, 92.77, 125.81) | |
| 2:31600091 | S>P | A:419 | (118.36, 92.77, 125.81) | |
| 2:31600076 | A>P | A:424 | (105.08, 88.57, 135.98) | |
| 2:31600072 | rs138649664 | S>C | A:425 | (101.67, 87.19, 136.89) |
| 2:31600056 | rs566687319 | D>E | A:430 | (105.86, 99.18, 144.88) |
| 2:31600047 | rs370440638 | K>N | A:433 | (108.23, 92.29, 139.21) |
| 2:31600043 | T>A | A:435 | (112.74, 94.67, 135.40) | |
| 2:31600032 | M>I | A:438 | (120.92, 93.42, 129.94) | |
| 2:31600027 | V>D | A:440 | (127.63, 94.46, 125.55) | |
| 2:31600023 | L>F | A:441 | (130.89, 97.36, 123.58) | |
| 2:31600010 | T>A | A:446 | (137.02, 91.28, 118.37) | |
| 2:31599998 | Q>E | A:450 | (135.41, 98.62, 125.84) | |
| 2:31599994 | E>G | A:451 | (131.31, 99.62, 127.39) | |
| 2:31599989 | rs185036611 | A>T | A:453 | (125.68, 97.03, 131.94) |
| 2:31599973 | G>A | A:458 | (113.07, 94.90, 142.14) | |
| 2:31599971 | M>V | A:459 | (115.96, 93.20, 143.47) | |
| 2:31599960 | R>S | A:462 | (117.73, 102.11, 144.63) | |
| 2:31599944 | K>E | A:468 | (131.22, 95.02, 142.84) | |
| 2:31599928 | Q>R | A:473 | (133.68, 90.35, 134.01) | |
| 2:31598392 | COSM721248 COSM304765 |
V>M | A:486 | (128.47, 86.84, 136.05) |
| 2:31598388 | C>Y | A:487 | (126.28, 84.01, 138.00) | |
| 2:31598371 | E>K | A:493 | (126.41, 92.75, 144.40) | |
| 2:31598355 | P>L | A:498 | (114.98, 86.42, 154.81) | |
| 2:31598347 | P>S | A:501 | (110.42, 93.64, 151.34) | |
| 2:31598337 | rs372497202 | M>T | A:504 | (108.49, 85.63, 146.28) |
| 2:31598331 | D>G | A:506 | (114.50, 81.86, 146.39) | |
| 2:31598325 | rs148603901 | R>Q | A:508 | (112.84, 88.95, 144.74) |
| 2:31598326 | R>W | A:508 | (112.84, 88.95, 144.74) | |
| 2:31598313 | rs74874345 | T>I | A:512 | (118.88, 87.64, 138.58) |
| 2:31598284 | T>A | A:522 | (120.91, 85.97, 122.77) | |
| 2:31598269 | L>M | A:527 | (128.46, 86.28, 116.91) | |
| 2:31598265 | G>D | A:528 | (129.63, 83.00, 116.41) | |
| 2:31598263 | COSM4093820 | Q>K | A:529 | (126.47, 80.19, 115.85) |
| 2:31598259 | E>G | A:530 | (128.10, 77.80, 119.36) | |
| 2:31598251 | rs147476468 | E>K | A:533 | (122.75, 70.80, 111.59) |
| 2:31596748 | rs183162063 | Q>H | A:559 | (82.00, 75.92, 118.90) |
| 2:31596746 | L>H | A:560 | (79.87, 70.74, 118.44) | |
| 2:31596747 | L>V | A:560 | (79.87, 70.74, 118.44) | |
| 2:31596740 | Q>P | A:562 | (71.65, 67.68, 119.19) | |
| 2:31595241 | E>V | A:570 | (60.11, 77.74, 113.06) | |
| 2:31595236 | D>H | A:572 | (59.15, 75.54, 119.90) | |
| 2:31595231 | M>I | A:573 | (62.28, 78.88, 120.48) | |
| 2:31595233 | M>V | A:573 | (62.28, 78.88, 120.48) | |
| 2:31595223 | R>Q | A:576 | (65.31, 76.44, 118.10) | |
| 2:31595224 | rs139772558 | R>W | A:576 | (65.31, 76.44, 118.10) |
| 2:31595208 | L>P | A:581 | (65.78, 88.38, 126.38) | |
| 2:31595205 | rs536702980 | A>V | A:582 | (69.15, 91.93, 126.93) |
| 2:31595199 | rs45491693 | D>A | A:584 | (70.70, 94.44, 122.05) |
| 2:31595200 | D>N | A:584 | (70.70, 94.44, 122.05) | |
| 2:31595184 | G>V | A:589 | (73.56, 101.16, 127.66) | |
| 2:31595179 | A>T | A:591 | (70.75, 98.63, 130.70) | |
| 2:31595176 | rs141314828 | V>M | A:592 | (69.27, 99.77, 134.31) |
| 2:31595157 | P>L | A:598 | (67.89, 107.65, 139.31) | |
| 2:31595154 | rs200795066 COSM721249 COSM1641902 |
R>H | A:599 | (70.88, 110.19, 143.38) |
| 2:31595155 | rs558003041 COSM3581118 |
R>C | A:599 | (70.88, 110.19, 143.38) |
| 2:31595152 | Y>N | A:600 | (64.51, 110.16, 144.83) | |
| 2:31595144 | N>K | A:602 | (66.08, 113.82, 149.16) | |
| 2:31595143 | COSM3581117 | E>K | A:603 | (69.31, 110.10, 147.39) |
| 2:31595133 | L>P | A:606 | (76.71, 105.34, 153.21) | |
| 2:31595131 | rs201464771 | R>W | A:607 | (82.15, 105.82, 152.48) |
| 2:31595127 | L>R | A:608 | (81.25, 101.47, 155.69) | |
| 2:31595113 | rs201668777 | R>W | A:613 | (94.31, 97.20, 165.16) |
| 2:31595099 | rs45442398 | K>N | A:617 | (89.10, 96.11, 174.38) |
| 2:31593342 | rs371877914 | S>C | A:620 | (87.36, 105.50, 172.12) |
| 2:31593340 | I>V | A:621 | (84.80, 106.35, 168.69) | |
| 2:31593333 | rs45448694 | T>I | A:623 | (83.38, 112.42, 165.75) |
| 2:31593331 | S>P | A:624 | (85.97, 115.81, 165.79) | |
| 2:31593305 | rs149593992 | F>L | A:632 | (78.74, 115.15, 158.69) |
| 2:31593288 | A>V | A:638 | (75.63, 100.32, 167.53) | |
| 2:31593289 | rs202112369 COSM4141066 |
A>T | A:638 | (75.63, 100.32, 167.53) |
| 2:31593285 | D>G | A:639 | (74.40, 102.74, 170.50) | |
| 2:31593279 | V>D | A:641 | (69.93, 99.53, 166.39) | |
| 2:31593244 | E>K | A:653 | (77.57, 88.49, 162.21) | |
| 2:31593224 | D>E | A:659 | (82.47, 96.20, 173.56) | |
| 2:31591526 | V>I | A:661 | (87.41, 94.16, 166.88) | |
| 2:31591519 | C>Y | A:663 | (88.55, 90.89, 161.87) | |
| 2:31591517 | rs201301387 | V>I | A:664 | (91.09, 93.01, 159.38) |
| 2:31591510 | H>R | A:666 | (83.98, 94.04, 162.23) | |
| 2:31591511 | H>Y | A:666 | (83.98, 94.04, 162.23) | |
| 2:31591507 | I>T | A:667 | (81.25, 96.95, 160.08) | |
| 2:31591499 | A>T | A:670 | (78.78, 104.92, 159.29) | |
| 2:31591495 | V>G | A:671 | (79.76, 108.29, 157.56) | |
| 2:31591489 | A>V | A:673 | (76.71, 112.57, 153.11) | |
| 2:31591483 | T>N | A:675 | (79.04, 113.70, 148.18) | |
| 2:31591480 | COSM3581113 | P>L | A:676 | (80.66, 110.49, 147.26) |
| 2:31591476 | E>D | A:677 | (83.49, 112.94, 146.68) | |
| 2:31591462 | A>D | A:682 | (84.50, 111.65, 156.76) | |
| 2:31591456 | Q>R | A:684 | (89.86, 109.71, 156.77) | |
| 2:31591447 | K>R | A:687 | (91.26, 108.81, 165.37) | |
| 2:31591441 | rs542860902 | T>I | A:689 | (91.45, 104.22, 170.56) |
| 2:31591433 | E>K | A:692 | (96.63, 94.59, 170.56) | |
| 2:31591423 | rs142001530 | A>V | A:695 | (95.73, 86.31, 167.02) |
| 2:31591415 | T>P | A:698 | (97.24, 80.17, 160.62) | |
| 2:31591412 | I>F | A:699 | (94.90, 76.61, 159.14) | |
| 2:31590922 | rs527413763 | D>V | A:701 | (97.57, 78.56, 164.60) |
| 2:31590916 | rs142848703 | I>K | A:703 | (95.15, 72.87, 165.04) |
| 2:31590917 | rs17011368 | I>V | A:703 | (95.15, 72.87, 165.04) |
| 2:31590907 | rs532403349 | N>S | A:706 | (91.30, 73.41, 170.05) |
| 2:31590898 | rs146345594 | Y>C | A:709 | (83.29, 77.75, 164.01) |
| 2:31590878 | rs267599347 COSM3910237 |
E>K | A:716 | (83.61, 55.22, 157.97) |
| 2:31590867 | D>E | A:719 | (87.34, 47.39, 157.09) | |
| 2:31590856 | COSM337798 COSM3910236 |
G>A | A:723 | (93.28, 47.30, 153.89) |
| 2:31590851 | S>A | A:725 | (96.88, 44.53, 155.16) | |
| 2:31589858 | E>K | A:734 | (100.65, 67.68, 153.42) | |
| 2:31589846 | COSM3972223 | G>S | A:738 | (93.91, 78.12, 147.64) |
| 2:31589822 | E>K | A:746 | (77.46, 95.07, 139.98) | |
| 2:31589812 | C>Y | A:749 | (74.56, 97.88, 146.25) | |
| 2:31589810 | T>P | A:750 | (71.73, 99.43, 148.86) | |
| 2:31589806 | I>T | A:751 | (68.99, 102.19, 146.38) | |
| 2:31589789 | rs370126462 | E>K | A:757 | (52.78, 105.44, 155.78) |
| 2:31589786 | A>T | A:758 | (54.10, 101.92, 159.10) | |
| 2:31589777 | M>V | A:761 | (61.79, 100.51, 153.91) | |
| 2:31589765 | V>M | A:765 | (69.42, 95.00, 146.39) | |
| 2:31589761 | S>C | A:766 | (72.92, 93.30, 144.19) | |
| 2:31589759 | rs367726228 | T>A | A:767 | (70.80, 89.99, 145.82) |
| 2:31588968 | V>A | A:777 | (66.15, 94.46, 157.35) | |
| 2:31588957 | L>M | A:781 | (64.32, 97.98, 161.72) | |
| 2:31588954 | rs544529260 | G>R | A:782 | (61.63, 95.88, 164.47) |
| 2:31588951 | rs138717520 | V>I | A:783 | (59.56, 95.60, 161.79) |
| 2:31588948 | rs141938849 | P>S | A:784 | (56.67, 93.54, 160.68) |
| 2:31588940 | rs575845178 | N>K | A:786 | (54.41, 93.08, 156.35) |
| 2:31588938 | rs149717617 | R>Q | A:787 | (55.10, 96.63, 157.66) |
| 2:31588939 | rs148904866 | R>W | A:787 | (55.10, 96.63, 157.66) |
| 2:31588935 | I>T | A:788 | (60.13, 95.05, 154.19) | |
| 2:31588936 | rs141050887 | I>F | A:788 | (60.13, 95.05, 154.19) |
| 2:31588926 | rs143887178 | R>Q | A:791 | (62.14, 96.12, 143.81) |
| 2:31588924 | V>L | A:792 | (66.30, 92.22, 142.13) | |
| 2:31588906 | COSM1668835 | G>S | A:798 | (77.95, 86.36, 141.87) |
| 2:31588884 | R>Q | A:805 | (78.47, 88.63, 153.83) | |
| 2:31588885 | rs140007233 | R>W | A:805 | (78.47, 88.63, 153.83) |
| 2:31588878 | T>I | A:807 | (73.22, 91.43, 154.17) | |
| 2:31588872 | V>G | A:809 | (75.67, 96.85, 152.78) | |
| 2:31588866 | rs372844459 COSM4093812 |
T>M | A:811 | (71.93, 96.33, 157.23) |
| 2:31588861 | rs142951412 | V>L | A:813 | (71.75, 101.48, 154.01) |
| 2:31588857 | rs148585342 | A>V | A:814 | (68.48, 100.94, 156.17) |
| 2:31588845 | Y>C | A:818 | (64.79, 104.56, 161.66) | |
| 2:31588846 | rs139272198 | Y>H | A:818 | (64.79, 104.56, 161.66) |
| 2:31588406 | G>S | A:821 | (63.91, 109.90, 156.42) | |
| 2:31588402 | R>H | A:822 | (66.81, 112.20, 153.59) | |
| 2:31588403 | R>C | A:822 | (66.81, 112.20, 153.59) | |
| 2:31588399 | P>R | A:823 | (66.52, 108.78, 150.56) | |
| 2:31588396 | V>A | A:824 | (70.24, 106.27, 151.58) | |
| 2:31588393 | COSM327549 | R>Q | A:825 | (72.36, 105.56, 146.38) |
| 2:31588390 | rs150297607 | C>Y | A:826 | (75.84, 102.55, 149.11) |
| 2:31588388 | M>V | A:827 | (78.63, 101.11, 145.11) | |
| 2:31588378 | R>H | A:830 | (86.56, 96.11, 143.32) | |
| 2:31588379 | COSM1483056 | R>C | A:830 | (86.56, 96.11, 143.32) |
| 2:31588368 | D>E | A:833 | (84.28, 94.44, 147.99) | |
| 2:31588365 | M>I | A:834 | (88.73, 92.59, 147.67) | |
| 2:31588366 | M>T | A:834 | (88.73, 92.59, 147.67) | |
| 2:31588367 | M>V | A:834 | (88.73, 92.59, 147.67) | |
| 2:31588357 | T>S | A:837 | (82.93, 90.35, 151.32) | |
| 2:31588342 | P>R | A:842 | (91.21, 77.94, 152.23) | |
| 2:31588340 | F>L | A:843 | (90.20, 73.08, 152.02) | |
| 2:31587100 | rs548580818 | M>K | A:852 | (97.30, 46.48, 144.32) |
| 2:31587101 | M>L | A:852 | (97.30, 46.48, 144.32) | |
| 2:31587091 | G>E | A:855 | (96.53, 50.17, 140.07) | |
| 2:31587088 | T>I | A:856 | (93.76, 48.46, 141.41) | |
| 2:31587080 | A>T | A:859 | (92.45, 52.04, 150.55) | |
| 2:31587073 | E>G | A:861 | (93.05, 57.92, 155.79) | |
| 2:31587066 | D>E | A:863 | (92.19, 64.30, 157.20) | |
| 2:31587055 | rs374758075 | N>S | A:867 | (90.23, 79.09, 157.02) |
| 2:31587043 | T>I | A:871 | (81.34, 84.15, 160.79) | |
| 2:31587035 | rs371771297 | L>F | A:874 | (76.98, 78.73, 154.43) |
| 2:31573086 | M>V | A:879 | (83.48, 70.44, 154.70) | |
| 2:31573079 | COSM286557 | R>Q | A:881 | (78.78, 69.73, 147.90) |
| 2:31573076 | rs199624952 | A>G | A:882 | (83.52, 68.05, 150.15) |
| 2:31573077 | A>S | A:882 | (83.52, 68.05, 150.15) | |
| 2:31573067 | H>R | A:885 | (82.25, 65.44, 145.54) | |
| 2:31573061 | rs145291309 | D>G | A:887 | (84.59, 60.14, 144.68) |
| 2:31573037 | rs139272445 | I>N | A:895 | (86.49, 55.35, 152.33) |
| 2:31573034 | R>Q | A:896 | (88.46, 57.81, 158.22) | |
| 2:31573025 | G>A | A:899 | (86.45, 67.54, 159.06) | |
| 2:31573022 | R>Q | A:900 | (87.18, 70.11, 162.81) | |
| 2:31573023 | R>W | A:900 | (87.18, 70.11, 162.81) | |
| 2:31572992 | rs669884 | T>M | A:910 | (81.17, 82.59, 151.54) |
| 2:31572984 | R>W | A:913 | (80.97, 79.05, 139.52) | |
| 2:31572980 | rs372422786 | G>D | A:914 | (81.33, 74.83, 143.84) |
| 2:31572977 | F>S | A:915 | (78.95, 75.06, 148.00) | |
| 2:31572975 | G>R | A:916 | (83.93, 72.49, 147.61) | |
| 2:31572948 | E>K | A:925 | (92.91, 63.66, 140.72) | |
| 2:31572939 | M>V | A:928 | (95.10, 58.85, 141.10) | |
| 2:31572935 | S>N | A:929 | (98.86, 60.98, 139.80) | |
| 2:31572927 | rs141291583 | A>T | A:932 | (100.44, 56.16, 138.20) |
| 2:31572917 | C>S | A:935 | (103.06, 51.81, 139.20) | |
| 2:31572912 | M>V | A:937 | (102.75, 55.08, 133.61) | |
| 2:31572906 | A>P | A:939 | (97.66, 57.78, 133.33) | |
| 2:31572903 | E>K | A:940 | (94.23, 56.36, 130.27) | |
| 2:31572693 | rs138396004 | R>Q | A:943 | (93.01, 58.59, 135.80) |
| 2:31572694 | rs144514609 | R>W | A:943 | (93.01, 58.59, 135.80) |
| 2:31572670 | rs142675390 | G>R | A:951 | (75.11, 50.87, 139.27) |
| 2:31572667 | D>N | A:952 | (78.16, 50.91, 140.98) | |
| 2:31572658 | H>Y | A:955 | (81.27, 57.77, 149.47) | |
| 2:31572653 | F>L | A:956 | (76.95, 58.97, 149.21) | |
| 2:31572651 | N>I | A:957 | (75.24, 54.01, 150.14) | |
| 2:31572648 | Q>R | A:958 | (73.10, 57.83, 145.62) | |
| 2:31572640 | E>K | A:961 | (70.27, 55.44, 138.19) | |
| 2:31572621 | R>I | A:967 | (78.41, 58.41, 125.65) | |
| 2:31572619 | C>G | A:968 | (82.17, 61.44, 127.98) | |
| 2:31572613 | E>K | A:970 | (85.76, 56.10, 125.17) | |
| 2:31572610 | rs148921536 | E>K | A:971 | (82.63, 61.21, 122.40) |
| 2:31572588 | Y>C | A:978 | (95.97, 61.25, 125.11) | |
| 2:31572586 | H>N | A:979 | (96.49, 57.93, 122.11) | |
| 2:31572583 | A>P | A:980 | (99.27, 60.96, 119.25) | |
| 2:31572580 | COSM1407729 | R>W | A:981 | (97.90, 65.94, 120.98) |
| 2:31572565 | rs367710339 | D>N | A:986 | (107.18, 62.56, 124.44) |
| 2:31572552 | K>R | A:990 | (114.52, 63.83, 122.70) | |
| 2:31571843 | E>D | A:991 | (113.95, 68.01, 119.77) | |
| 2:31571845 | COSM1690400 | E>K | A:991 | (113.95, 68.01, 119.77) |
| 2:31571838 | C>F | A:993 | (116.70, 71.96, 127.02) | |
| 2:31571815 | I>V | A:1001 | (92.69, 63.15, 130.46) | |
| 2:31571785 | T>S | A:1011 | (72.18, 69.90, 151.04) | |
| 2:31571222 | rs536923494 | A>D | A:1020 | (55.15, 81.67, 140.27) |
| 2:31571213 | H>R | A:1023 | (49.46, 88.35, 135.86) | |
| 2:31571214 | H>Y | A:1023 | (49.46, 88.35, 135.86) | |
| 2:31571211 | V>M | A:1024 | (46.70, 87.17, 130.99) | |
| 2:31571198 | rs571418792 COSM3407822 |
G>A | A:1028 | (47.17, 89.12, 125.28) |
| 2:31571180 | H>L | A:1034 | (60.86, 83.92, 138.20) | |
| 2:31571178 | G>R | A:1035 | (62.03, 83.73, 142.12) | |
| 2:31571171 | T>I | A:1037 | (67.86, 86.25, 140.37) | |
| 2:31571165 | M>T | A:1039 | (73.49, 86.25, 138.07) | |
| 2:31571157 | G>R | A:1042 | (69.49, 83.11, 131.36) | |
| 2:31571148 | rs142402298 | T>A | A:1045 | (66.07, 83.67, 128.32) |
| 2:31571139 | V>I | A:1048 | (60.49, 82.87, 128.16) | |
| 2:31570516 | V>M | A:1050 | (59.35, 77.04, 129.05) | |
| 2:31570510 | S>G | A:1052 | (56.45, 79.65, 124.82) | |
| 2:31570501 | L>V | A:1055 | (51.16, 78.89, 126.77) | |
| 2:31570481 | K>N | A:1061 | (52.75, 87.42, 122.44) | |
| 2:31570476 | Y>C | A:1063 | (58.67, 91.77, 129.64) | |
| 2:31570474 | I>V | A:1064 | (60.27, 88.72, 132.65) | |
| 2:31570468 | E>K | A:1066 | (61.12, 93.14, 138.69) | |
| 2:31570464 | T>I | A:1067 | (62.69, 89.73, 141.02) | |
| 2:31570461 | rs186225688 | S>N | A:1068 | (59.64, 90.63, 144.03) |
| 2:31570459 | rs146283435 | T>A | A:1069 | (59.34, 90.44, 148.05) |
| 2:31570454 | N>K | A:1070 | (55.40, 91.72, 146.33) | |
| 2:31570456 | N>D | A:1070 | (55.40, 91.72, 146.33) | |
| 2:31570431 | T>M | A:1078 | (69.57, 82.51, 143.04) | |
| 2:31570420 | V>L | A:1082 | (68.71, 74.22, 140.89) | |
| 2:31570410 | D>V | A:1085 | (65.64, 72.89, 137.34) | |
| 2:31570404 | rs370788512 | N>S | A:1087 | (62.01, 78.55, 138.79) |
| 2:31570405 | rs374248574 | N>D | A:1087 | (62.01, 78.55, 138.79) |
| 2:31570399 | Q>E | A:1089 | (58.59, 72.53, 137.19) | |
| 2:31569708 | rs553426035 | A>V | A:1093 | (52.07, 75.01, 136.65) |
| 2:31569705 | A>V | A:1094 | (50.98, 78.17, 135.97) | |
| 2:31569677 | E>D | A:1103 | (39.90, 73.54, 126.86) | |
| 2:31569676 | rs558670995 | P>S | A:1104 | (36.27, 75.93, 127.48) |
| 2:31569660 | rs45547640 | N>T | A:1109 | (36.77, 79.23, 118.13) |
| 2:31567596 | A>T | A:1120 | (36.22, 85.41, 125.86) | |
| 2:31567592 | A>D | A:1121 | (37.00, 84.56, 129.18) | |
| 2:31567590 | Y>H | A:1122 | (36.95, 90.04, 130.99) | |
| 2:31567586 | M>T | A:1123 | (33.13, 89.06, 128.22) | |
| 2:31565155 | N>S | A:1138 | (61.94, 61.10, 147.42) | |
| 2:31565152 | L>R | A:1139 | (65.56, 64.72, 148.67) | |
| 2:31565142 | S>R | A:1142 | (71.64, 60.64, 157.53) | |
| 2:31565136 | rs200349996 | E>D | A:1144 | (73.86, 59.75, 162.00) |
| 2:31565134 | T>I | A:1145 | (72.59, 56.20, 158.72) | |
| 2:31565126 | G>R | A:1148 | (69.85, 58.14, 151.76) | |
| 2:31565121 | N>K | A:1149 | (68.82, 60.22, 148.57) | |
| 2:31565119 | rs1042036 | P>R | A:1150 | (71.64, 63.36, 148.71) |
| 2:31565101 | Y>C | A:1156 | (78.04, 62.69, 134.90) | |
| 2:31565086 | S>C | A:1161 | (94.88, 70.00, 128.41) | |
| 2:31565080 | rs142988357 | V>A | A:1163 | (100.77, 72.95, 128.56) |
| 2:31565057 | D>N | A:1171 | (105.51, 81.98, 131.33) | |
| 2:31565053 | H>R | A:1172 | (101.77, 78.98, 131.24) | |
| 2:31564256 | L>R | A:1175 | (99.09, 75.02, 123.49) | |
| 2:31564253 | rs529891514 | R>H | A:1176 | (94.08, 71.38, 121.76) |
| 2:31564254 | rs45624433 | R>C | A:1176 | (94.08, 71.38, 121.76) |
| 2:31564250 | rs148972840 | T>I | A:1177 | (91.44, 72.61, 125.64) |
| 2:31564244 | rs139515054 | I>T | A:1179 | (85.45, 70.16, 126.90) |
| 2:31564241 | V>A | A:1180 | (82.83, 66.31, 126.46) | |
| 2:31564238 | rs373259977 | M>K | A:1181 | (79.62, 68.49, 129.40) |
| 2:31564223 | S>I | A:1186 | (69.79, 72.10, 125.91) | |
| 2:31562543 | V>L | A:1196 | (81.01, 75.50, 129.69) | |
| 2:31562534 | A>T | A:1199 | (83.63, 78.06, 134.36) | |
| 2:31562521 | G>D | A:1203 | (89.71, 77.66, 136.99) | |
| 2:31562515 | G>A | A:1205 | (92.53, 80.94, 137.99) | |
| 2:31562500 | E>A | A:1210 | (93.36, 83.92, 141.10) | |
| 2:31562482 | rs143981573 | P>H | A:1216 | (102.05, 88.76, 159.28) |
| 2:31562483 | COSM3581091 | P>S | A:1216 | (102.05, 88.76, 159.28) |
| 2:31562480 | rs202023189 COSM3798957 |
E>K | A:1217 | (100.05, 91.37, 161.40) |
| 2:31562464 | rs148235835 | T>I | A:1222 | (95.72, 91.58, 147.78) |
| 2:31562461 | COSM1306715 | R>H | A:1223 | (93.02, 95.96, 149.35) |
| 2:31562462 | rs116290580 | R>C | A:1223 | (93.02, 95.96, 149.35) |
| 2:31562452 | S>N | A:1226 | (97.07, 95.52, 140.14) | |
| 2:31562437 | P>L | A:1231 | (91.77, 85.66, 133.72) | |
| 2:31562419 | rs200177886 | P>L | A:1237 | (92.77, 78.50, 125.66) |
| 2:31562416 | I>T | A:1238 | (95.52, 78.93, 121.53) | |
| 2:31562405 | rs183714440 | V>M | A:1242 | (83.17, 72.95, 123.51) |
| 2:31562392 | rs140606023 | R>H | A:1246 | (74.72, 63.93, 119.93) |
| 2:31562393 | rs142329784 | R>C | A:1246 | (74.72, 63.93, 119.93) |
| 2:31562390 | rs369981553 | D>N | A:1247 | (71.27, 61.15, 121.54) |
| 2:31562367 | I>M | A:1254 | (62.27, 71.05, 132.94) | |
| 2:31562365 | rs147253350 | Y>F | A:1255 | (60.12, 70.69, 128.66) |
| 2:31560670 | P>L | A:1263 | (79.78, 71.28, 137.09) | |
| 2:31560667 | P>R | A:1264 | (82.10, 72.78, 134.51) | |
| 2:31560668 | COSM4093807 | P>T | A:1264 | (82.10, 72.78, 134.51) |
| 2:31560652 | A>V | A:1269 | (92.54, 70.56, 136.31) | |
| 2:31560649 | S>C | A:1270 | (93.61, 69.74, 133.03) | |
| 2:31560646 | I>T | A:1271 | (95.64, 73.44, 132.66) | |
| 2:31560647 | I>V | A:1271 | (95.64, 73.44, 132.66) | |
| 2:31560619 | R>H | A:1280 | (107.61, 64.65, 136.57) | |
| 2:31560620 | R>C | A:1280 | (107.61, 64.65, 136.57) | |
| 2:31560610 | COSM3798956 | R>Q | A:1283 | (112.52, 67.88, 138.88) |
| 2:31560601 | H>L | A:1286 | (118.38, 70.22, 134.14) | |
| 2:31560589 | N>S | A:1290 | (115.94, 61.80, 140.59) | |
| 2:31560587 | rs191740294 | V>M | A:1291 | (113.66, 56.94, 139.89) |
| 2:31560583 | rs73922346 | K>R | A:1292 | (109.61, 55.97, 140.22) |
| 2:31560581 | E>Q | A:1293 | (110.60, 62.40, 142.00) | |
| 2:31560574 | F>C | A:1295 | (106.99, 66.91, 142.60) | |
| 2:31560571 | rs139691722 | R>Q | A:1296 | (104.04, 69.90, 148.59) |
| 2:31560572 | rs45564939 | R>W | A:1296 | (104.04, 69.90, 148.59) |
| 2:31560561 | S>R | A:1299 | (96.87, 75.67, 144.55) | |
| 2:31560562 | S>N | A:1299 | (96.87, 75.67, 144.55) | |
| 2:31560557 | A>T | A:1301 | (100.44, 77.40, 139.69) | |
| 2:31560550 | P>L | A:1303 | (105.02, 81.93, 137.96) | |
| 2:31560538 | rs138249576 | R>H | A:1307 | (112.19, 78.53, 137.83) |
| 2:31560539 | rs371280381 | R>C | A:1307 | (112.19, 78.53, 137.83) |
| 2:31560535 | N>S | A:1308 | (110.89, 77.80, 142.66) | |
| 2:31560524 | D>N | A:1312 | (118.90, 74.63, 137.87) | |
| 2:31560521 | rs141335716 | K>E | A:1313 | (123.55, 75.31, 136.49) |
| 2:31560516 | rs376342473 | F>L | A:1314 | (121.01, 78.83, 137.35) |
| 2:31560515 | T>A | A:1315 | (118.36, 76.62, 142.10) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:31621561 | COSM1690414 | R>K | A:104 | (78.71, 92.61, 114.21) |
| 2:31621549 | COSM1690413 | S>N | A:108 | (77.81, 86.55, 119.15) |
| 2:31621532 | COSM1494918 | G>R | A:114 | (76.95, 93.22, 130.80) |
| 2:31620593 | COSM1159318 | N>H | A:146 | (89.17, 95.67, 128.38) |
| 2:31620554 | COSM2157159 | G>C | A:159 | (82.65, 88.26, 116.33) |
| 2:31620539 | COSM3426391 | A>T | A:164 | (89.29, 91.53, 109.48) |
| 2:31609390 | COSM3426390 | R>Q | A:228 | (93.43, 130.45, 138.58) |
| 2:31606681 | COSM3581133 | P>S | A:276 | (97.59, 122.11, 147.18) |
| 2:31606641 | COSM1020134 | S>L | A:289 | (109.02, 117.47, 120.62) |
| 2:31605980 | COSM3581131 | E>K | A:309 | (104.97, 102.06, 120.65) |
| 2:31605974 | COSM2941922 | T>P | A:311 | (108.22, 106.62, 116.53) |
| 2:31598392 | COSM721248 | V>L | A:486 | (128.47, 86.84, 136.05) |
| 2:31595112 | COSM1288980 | R>Q | A:613 | (94.31, 97.20, 165.16) |
| 2:31593289 | COSM4141066 | A>T | A:638 | (75.63, 100.32, 167.53) |
| 2:31589851 | COSM1717261 | Y>F | A:736 | (97.45, 75.41, 150.96) |
| 2:31588906 | COSM1668835 | G>C | A:798 | (77.95, 86.36, 141.87) |
| 2:31588885 | COSM1581953 | R>W | A:805 | (78.47, 88.63, 153.83) |
| 2:31588393 | COSM327549 | R>Q | A:825 | (72.36, 105.56, 146.38) |
| 2:31588330 | COSM1194873 | R>T | A:846 | (97.16, 66.16, 156.90) |
| 2:31573079 | COSM286557 | R>Q | A:881 | (78.78, 69.73, 147.90) |
| 2:31573035 | COSM1407731 | R>W | A:896 | (88.46, 57.81, 158.22) |
| 2:31572998 | COSM1721000 | S>F | A:908 | (83.76, 85.36, 156.59) |
| 2:31572694 | COSM1579986 | R>W | A:943 | (93.01, 58.59, 135.80) |
| 2:31572645 | COSM1270556 | K>T | A:959 | (71.71, 53.17, 142.25) |
| 2:31572580 | COSM1407729 | R>W | A:981 | (97.90, 65.94, 120.98) |
| 2:31571184 | COSM1407728 | T>A | A:1033 | (57.28, 86.59, 138.10) |
| 2:31570422 | COSM1690398 | S>F | A:1081 | (72.50, 74.99, 139.57) |
| 2:31570414 | COSM1020122 | A>T | A:1084 | (66.35, 76.39, 136.37) |
| 2:31569684 | COSM1531741 | R>T | A:1101 | (41.55, 78.97, 134.59) |
| 2:31567595 | COSM2941839 | A>V | A:1120 | (36.22, 85.41, 125.86) |
| 2:31564236 | COSM1690397 | D>N | A:1182 | (76.00, 65.65, 130.36) |
| 2:31562483 | COSM3581091 | P>S | A:1216 | (102.05, 88.76, 159.28) |
| 2:31562393 | COSM721258 | R>C | A:1246 | (74.72, 63.93, 119.93) |
| 2:31560548 | COSM1720999 | E>K | A:1304 | (106.98, 81.60, 143.14) |
| 2:31560521 | COSM1581952 | K>E | A:1313 | (123.55, 75.31, 136.49) |