General Structure Information
| PDB ID | 4acq |
| HGNC Gene Label(s) | A2M |
| Structure Name | alpha-2 macroglobulin |
| Resolution | 4.3Å |
| Reference | AUTH A.MARRERO,S.DUQUERROY,S.TRAPANI,T.GOULAS,T.GUEVARA,AUTH 2 G.R.ANDERSEN,J.NAVAZA,L.SOTTRUP-JENSEN,F.X.GOMIS-RUTHTITL THE CRYSTAL STRUCTURE OF HUMAN ALPHA(2)-MACROGLOBULINTITL 2 REVEALS A UNIQUE MOLECULAR CAGE.REF ANGEW.CHEM.INT.ED.ENGL. V. 51 3340 2012REFN ISSN 1433-7851PMID 22290936DOI 10.1002/ANIE.201108015 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 1269 |
| Number Of SNVs | 286 |
| Number Of Permutations | 88624 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.005 |
| p-value | 0.748 |
COSMIC

Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 286 |
| Number Of COSMIC SNVs | 17 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.012 |
| p-value | 0.698 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:9268360 | rs368215969 COSM695445 |
P>L | B:29 | (113.28, 129.07, 35.60) |
| 12:9266129 | V>F | B:33 | (110.27, 136.02, 48.04) | |
| 12:9266120 | COSM3466425 | P>S | B:36 | (108.04, 138.39, 57.75) |
| 12:9266117 | S>A | B:37 | (103.75, 137.18, 58.61) | |
| 12:9266111 | L>F | B:39 | (105.45, 143.17, 59.42) | |
| 12:9266105 | T>A | B:41 | (105.29, 149.72, 62.17) | |
| 12:9266056 | rs200420993 | T>I | B:57 | (119.10, 140.14, 34.47) |
| 12:9266044 | S>N | B:61 | (108.81, 144.52, 42.84) | |
| 12:9266041 | A>V | B:62 | (107.34, 144.88, 46.77) | |
| 12:9266035 | L>S | B:64 | (102.38, 147.03, 51.57) | |
| 12:9266015 | rs199673531 | R>W | B:71 | (98.68, 153.08, 53.45) |
| 12:9265990 | A>V | B:79 | (118.89, 139.92, 42.73) | |
| 12:9265986 | E>D | B:80 | (122.32, 138.41, 43.28) | |
| 12:9265976 | L>V | B:84 | (120.46, 134.63, 49.64) | |
| 12:9265967 | V>L | B:87 | (115.76, 143.98, 51.34) | |
| 12:9265958 | rs375536103 COSM1181118 |
A>T | B:90 | (110.19, 150.35, 58.16) |
| 12:9265125 | K>M | B:93 | (100.91, 152.20, 60.06) | |
| 12:9265122 | S>F | B:94 | (97.70, 153.95, 60.59) | |
| 12:9265106 | E>D | B:99 | (96.41, 147.72, 59.24) | |
| 12:9265105 | V>I | B:100 | (95.31, 143.53, 57.57) | |
| 12:9265098 | F>Y | B:102 | (96.37, 143.17, 50.01) | |
| 12:9265099 | rs114851022 | F>L | B:102 | (96.37, 143.17, 50.01) |
| 12:9265089 | V>A | B:105 | (105.60, 140.17, 44.78) | |
| 12:9265090 | V>L | B:105 | (105.60, 140.17, 44.78) | |
| 12:9265086 | Q>R | B:106 | (106.04, 142.61, 39.85) | |
| 12:9265078 | G>R | B:109 | (110.86, 141.14, 32.73) | |
| 12:9265053 | R>L | B:117 | (97.30, 139.19, 45.90) | |
| 12:9265054 | COSM3417261 | R>W | B:117 | (97.30, 139.19, 45.90) |
| 12:9265047 | T>K | B:119 | (97.04, 138.43, 53.95) | |
| 12:9265027 | D>N | B:126 | (105.40, 149.15, 72.94) | |
| 12:9265022 | rs369090397 | S>R | B:127 | (108.56, 149.08, 74.88) |
| 12:9265011 | V>A | B:131 | (110.20, 150.02, 87.44) | |
| 12:9264991 | Y>H | B:138 | (110.10, 152.27, 100.95) | |
| 12:9264798 | rs201769751 COSM944425 |
R>H | B:147 | (116.64, 153.45, 88.78) |
| 12:9264799 | COSM1177109 | R>C | B:147 | (116.64, 153.45, 88.78) |
| 12:9264787 | M>V | B:151 | (114.49, 148.34, 76.30) | |
| 12:9264771 | H>L | B:156 | (119.35, 148.80, 71.67) | |
| 12:9264761 | rs374407122 | N>K | B:159 | (115.52, 158.35, 74.09) |
| 12:9264759 | rs200572417 | E>V | B:160 | (109.69, 156.07, 75.11) |
| 12:9262631 | D>N | B:169 | (97.10, 154.95, 97.28) | |
| 12:9262623 | K>N | B:171 | (92.79, 153.09, 99.90) | |
| 12:9262625 | K>Q | B:171 | (92.79, 153.09, 99.90) | |
| 12:9262622 | G>R | B:172 | (93.72, 154.43, 94.81) | |
| 12:9262616 | COSM1364855 | R>C | B:174 | (96.62, 159.24, 90.24) |
| 12:9262610 | COSM944422 | A>T | B:176 | (102.38, 160.95, 92.23) |
| 12:9262607 | Q>K | B:177 | (101.37, 163.16, 88.29) | |
| 12:9262602 | W>C | B:178 | (106.50, 161.89, 88.21) | |
| 12:9262595 | F>L | B:181 | (108.94, 161.98, 80.60) | |
| 12:9262592 | rs377549857 | Q>K | B:182 | (112.68, 162.33, 76.27) |
| 12:9262586 | COSM3466414 | E>Q | B:184 | (117.97, 161.42, 78.74) |
| 12:9262562 | F>L | B:192 | (107.50, 159.81, 96.32) | |
| 12:9262558 | P>L | B:193 | (108.08, 162.37, 98.96) | |
| 12:9262559 | COSM1188433 | P>S | B:193 | (108.08, 162.37, 98.96) |
| 12:9262534 | G>D | B:201 | (100.72, 149.09, 102.36) | |
| 12:9262519 | V>A | B:206 | (101.72, 153.22, 87.16) | |
| 12:9262520 | V>M | B:206 | (101.72, 153.22, 87.16) | |
| 12:9262517 | V>I | B:207 | (104.46, 153.55, 83.62) | |
| 12:9262510 | K>R | B:209 | (102.83, 154.18, 77.61) | |
| 12:9262505 | S>T | B:211 | (99.85, 152.71, 73.84) | |
| 12:9262499 | G>R | B:213 | (100.69, 150.38, 78.63) | |
| 12:9262496 | R>G | B:214 | (98.06, 151.64, 82.92) | |
| 12:9262484 | P>T | B:218 | (105.08, 146.81, 93.49) | |
| 12:9262475 | rs578188069 | V>M | B:221 | (104.56, 151.29, 103.29) |
| 12:9261989 | COSM1364853 | F>S | B:229 | (118.39, 137.03, 112.80) |
| 12:9261981 | Q>K | B:232 | (119.50, 129.78, 106.57) | |
| 12:9261972 | V>L | B:235 | (113.40, 121.46, 102.93) | |
| 12:9261949 | rs372695298 | L>F | B:242 | (105.95, 106.11, 100.23) |
| 12:9261942 | E>K | B:245 | (113.69, 109.64, 104.94) | |
| 12:9261937 | M>I | B:246 | (112.06, 114.95, 105.85) | |
| 12:9261927 | V>M | B:250 | (117.38, 125.69, 111.15) | |
| 12:9260224 | rs372036246 | P>S | B:259 | (127.27, 132.09, 113.89) |
| 12:9260217 | rs182493380 | P>L | B:261 | (123.40, 131.52, 119.14) |
| 12:9260212 | H>Y | B:263 | (115.14, 127.62, 121.94) | |
| 12:9260181 | S>N | B:273 | (92.29, 117.60, 99.27) | |
| 12:9260170 | rs140258425 | D>N | B:277 | (88.87, 125.51, 99.78) |
| 12:9260164 | H>Y | B:279 | (86.04, 129.44, 103.81) | |
| 12:9260161 | G>S | B:280 | (84.38, 126.72, 108.14) | |
| 12:9260146 | A>T | B:285 | (96.02, 120.45, 109.80) | |
| 12:9260128 | rs374513475 | S>G | B:291 | (112.32, 121.77, 120.47) |
| 12:9260121 | rs370213648 | Q>R | B:293 | (119.48, 125.45, 121.87) |
| 12:9259194 | S>T | B:296 | (128.60, 127.87, 117.84) | |
| 12:9259191 | H>R | B:297 | (129.44, 125.82, 114.19) | |
| 12:9259185 | C>Y | B:299 | (122.35, 124.27, 113.57) | |
| 12:9259160 | K>N | B:307 | (104.49, 108.40, 106.91) | |
| 12:9259159 | V>I | B:308 | (102.71, 110.44, 109.35) | |
| 12:9259127 | M>I | B:318 | (104.73, 119.67, 103.16) | |
| 12:9259116 | T>N | B:322 | (110.60, 128.21, 111.76) | |
| 12:9259105 | I>V | B:326 | (118.44, 135.46, 120.45) | |
| 12:9259099 | E>Q | B:328 | (121.66, 137.33, 124.47) | |
| 12:9258921 | rs200241721 | Q>K | B:339 | (106.24, 127.30, 102.91) |
| 12:9258895 | I>M | B:347 | (107.25, 107.69, 90.93) | |
| 12:9258893 | T>S | B:348 | (109.66, 106.53, 87.55) | |
| 12:9258890 | K>R | B:349 | (108.60, 110.73, 83.70) | |
| 12:9258879 | rs182431409 | V>L | B:353 | (116.16, 114.06, 74.25) |
| 12:9258870 | D>N | B:356 | (114.14, 113.14, 64.06) | |
| 12:9258863 | rs112506934 | H>R | B:358 | (112.19, 116.21, 60.93) |
| 12:9258857 | rs2229298 | R>Q | B:360 | (113.00, 112.62, 55.79) |
| 12:9258852 | G>R | B:362 | (114.97, 105.76, 54.07) | |
| 12:9258839 | F>S | B:366 | (118.23, 110.01, 66.04) | |
| 12:9258840 | F>L | B:366 | (118.23, 110.01, 66.04) | |
| 12:9258834 | rs200272487 | Q>E | B:368 | (118.18, 110.17, 72.68) |
| 12:9256992 | rs377153333 | R>H | B:370 | (117.87, 111.04, 80.03) |
| 12:9256993 | rs371980049 | R>C | B:370 | (117.87, 111.04, 80.03) |
| 12:9256972 | rs200364039 | V>I | B:377 | (117.78, 111.09, 89.92) |
| 12:9256958 | N>K | B:381 | (122.12, 99.95, 84.97) | |
| 12:9256923 | Y>C | B:393 | (112.65, 99.23, 67.33) | |
| 12:9256902 | D>G | B:400 | (124.03, 105.20, 80.48) | |
| 12:9256899 | rs367610653 | E>A | B:401 | (125.79, 105.78, 84.90) |
| 12:9256896 | rs375282521 | H>R | B:402 | (124.54, 109.78, 82.36) |
| 12:9256876 | I>V | B:409 | (113.59, 103.36, 63.86) | |
| 12:9256872 | N>T | B:410 | (112.83, 100.43, 59.56) | |
| 12:9256867 | T>A | B:412 | (109.22, 100.14, 55.58) | |
| 12:9256851 | T>N | B:417 | (105.58, 107.01, 63.13) | |
| 12:9256852 | T>A | B:417 | (105.58, 107.01, 63.13) | |
| 12:9256849 | S>P | B:418 | (103.82, 105.43, 66.65) | |
| 12:9256846 | L>V | B:419 | (107.41, 106.38, 68.98) | |
| 12:9256842 | T>N | B:420 | (105.92, 104.37, 73.17) | |
| 12:9254266 | N>S | B:424 | (106.28, 100.36, 85.98) | |
| 12:9254257 | D>V | B:427 | (97.39, 98.97, 87.50) | |
| 12:9254254 | rs61730080 | R>H | B:428 | (101.04, 98.15, 91.93) |
| 12:9254255 | R>C | B:428 | (101.04, 98.15, 91.93) | |
| 12:9254228 | V>M | B:437 | (98.20, 108.47, 86.09) | |
| 12:9254209 | rs369016153 | E>G | B:443 | (105.51, 107.72, 79.73) |
| 12:9254204 | rs372489202 | H>Y | B:445 | (103.76, 108.90, 74.39) |
| 12:9254183 | F>L | B:452 | (105.72, 116.22, 49.59) | |
| 12:9254179 | COSM1606750 | S>F | B:453 | (108.05, 112.74, 48.39) |
| 12:9254172 | S>R | B:455 | (112.20, 113.72, 43.72) | |
| 12:9254164 | F>S | B:458 | (114.43, 113.35, 50.90) | |
| 12:9254153 | rs61730079 | E>K | B:462 | (121.11, 116.45, 63.60) |
| 12:9254136 | E>D | B:467 | (120.24, 125.80, 76.77) | |
| 12:9254135 | rs202178042 | L>I | B:468 | (122.52, 126.44, 72.27) |
| 12:9254128 | C>Y | B:470 | (125.80, 132.79, 74.50) | |
| 12:9254094 | I>M | B:481 | (119.10, 111.82, 49.09) | |
| 12:9254053 | F>S | B:495 | (121.98, 123.42, 49.74) | |
| 12:9254054 | rs200091633 | F>V | B:495 | (121.98, 123.42, 49.74) |
| 12:9254050 | Y>C | B:496 | (120.34, 128.77, 49.45) | |
| 12:9253793 | K>R | B:502 | (113.53, 138.83, 68.71) | |
| 12:9253764 | G>R | B:512 | (127.80, 124.41, 48.57) | |
| 12:9252102 | I>V | B:526 | (126.75, 124.86, 58.76) | |
| 12:9252098 | rs200185734 | S>L | B:527 | (128.60, 127.28, 61.17) |
| 12:9252078 | I>V | B:534 | (119.67, 134.19, 68.44) | |
| 12:9252071 | P>R | B:536 | (114.65, 132.44, 73.21) | |
| 12:9252066 | rs201235306 | A>T | B:538 | (116.33, 129.11, 67.17) |
| 12:9252062 | R>Q | B:539 | (112.01, 128.33, 64.87) | |
| 12:9252063 | R>W | B:539 | (112.01, 128.33, 64.87) | |
| 12:9252050 | Y>C | B:543 | (115.78, 126.99, 50.21) | |
| 12:9252023 | rs200177356 | I>T | B:552 | (114.10, 119.63, 49.18) |
| 12:9252000 | rs191018657 | V>I | B:560 | (119.00, 130.12, 72.93) |
| 12:9251979 | rs376425831 | K>E | B:567 | (128.86, 140.60, 79.13) |
| 12:9251344 | L>F | B:570 | (129.90, 144.74, 90.89) | |
| 12:9251342 | S>N | B:571 | (133.63, 144.83, 93.20) | |
| 12:9251319 | rs374437029 | P>A | B:579 | (133.85, 153.52, 109.97) |
| 12:9251316 | A>T | B:580 | (135.89, 152.61, 106.51) | |
| 12:9251307 | A>T | B:583 | (135.57, 151.36, 99.33) | |
| 12:9251297 | rs190555000 | R>Q | B:586 | (136.33, 149.01, 90.97) |
| 12:9251288 | rs377690298 | A>V | B:589 | (131.51, 147.35, 80.92) |
| 12:9251283 | COSM3667250 | P>S | B:591 | (132.79, 150.96, 76.10) |
| 12:9251274 | rs373288303 | V>I | B:594 | (124.83, 154.36, 81.49) |
| 12:9251268 | rs368979443 | A>T | B:596 | (122.87, 151.57, 87.62) |
| 12:9251234 | M>T | B:607 | (111.95, 142.74, 105.51) | |
| 12:9251229 | P>A | B:609 | (112.28, 140.32, 98.55) | |
| 12:9251213 | rs373637929 COSM3720657 |
S>L | B:614 | (115.65, 143.60, 87.09) |
| 12:9251204 | rs531579697 COSM1562418 |
S>L | B:617 | (112.51, 140.44, 84.41) |
| 12:9248289 | N>S | B:620 | (109.80, 137.65, 80.56) | |
| 12:9248265 | T>I | B:628 | (104.55, 129.69, 65.70) | |
| 12:9248263 | G>S | B:629 | (102.66, 130.65, 62.54) | |
| 12:9248232 | N>S | B:639 | (93.20, 129.58, 51.04) | |
| 12:9248233 | rs226405 | N>D | B:639 | (93.20, 129.58, 51.04) |
| 12:9248214 | rs200062192 | R>H | B:645 | (88.53, 118.41, 43.12) |
| 12:9248211 | H>R | B:646 | (89.66, 116.25, 40.39) | |
| 12:9248209 | N>D | B:647 | (88.77, 113.46, 42.28) | |
| 12:9248197 | N>D | B:651 | (91.04, 102.51, 37.99) | |
| 12:9248181 | T>I | B:656 | (89.31, 104.70, 44.85) | |
| 12:9248157 | K>R | B:664 | (104.67, 116.97, 55.31) | |
| 12:9248151 | M>T | B:666 | (108.48, 123.14, 52.22) | |
| 12:9248152 | M>V | B:666 | (108.48, 123.14, 52.22) | |
| 12:9247673 | G>D | B:674 | (106.92, 132.77, 59.91) | |
| 12:9247643 | rs369822629 | R>H | B:684 | (102.58, 122.76, 48.23) |
| 12:9247637 | P>L | B:686 | (98.53, 119.03, 46.29) | |
| 12:9246109 | V>E | B:731 | (133.54, 156.57, 118.34) | |
| 12:9246110 | rs367601457 | V>I | B:731 | (133.54, 156.57, 118.34) |
| 12:9246077 | rs545926870 | D>N | B:742 | (124.88, 156.69, 91.79) |
| 12:9246065 | V>L | B:746 | (132.50, 152.85, 81.48) | |
| 12:9244012 | A>T | B:752 | (135.28, 153.63, 89.95) | |
| 12:9243997 | T>A | B:757 | (131.71, 152.46, 104.90) | |
| 12:9243980 | rs369403894 | I>M | B:762 | (124.57, 145.95, 110.96) |
| 12:9243974 | rs375590271 | E>D | B:764 | (126.51, 141.38, 104.62) |
| 12:9243922 | S>P | B:782 | (126.41, 140.07, 89.76) | |
| 12:9243888 | F>S | B:793 | (129.18, 144.92, 117.57) | |
| 12:9243876 | T>I | B:797 | (116.72, 145.66, 121.43) | |
| 12:9243867 | Y>C | B:800 | (108.49, 152.69, 114.40) | |
| 12:9243855 | rs117138141 | R>H | B:804 | (103.90, 161.30, 126.09) |
| 12:9243828 | T>M | B:813 | (123.91, 143.42, 123.02) | |
| 12:9243820 | N>D | B:816 | (133.66, 139.73, 122.12) | |
| 12:9243804 | C>Y | B:821 | (139.19, 138.04, 127.60) | |
| 12:9243799 | rs372194305 | R>W | B:823 | (134.96, 142.32, 134.07) |
| 12:9243078 | V>F | B:824 | (132.01, 145.24, 129.78) | |
| 12:9243072 | V>M | B:826 | (127.39, 148.92, 130.16) | |
| 12:9243060 | A>T | B:830 | (120.68, 160.83, 130.39) | |
| 12:9243042 | A>P | B:836 | (116.29, 154.84, 133.13) | |
| 12:9243032 | V>A | B:839 | (117.54, 145.39, 135.47) | |
| 12:9243018 | A>T | B:844 | (129.64, 145.64, 138.09) | |
| 12:9243008 | C>F | B:847 | (132.67, 138.00, 133.15) | |
| 12:9242994 | COSM1181113 | G>R | B:852 | (129.83, 136.64, 123.47) |
| 12:9242991 | R>W | B:853 | (125.64, 137.54, 122.92) | |
| 12:9242613 | V>E | B:868 | (113.96, 160.32, 121.23) | |
| 12:9242602 | V>M | B:872 | (124.83, 153.38, 124.73) | |
| 12:9242574 | E>G | B:881 | (144.17, 142.19, 138.52) | |
| 12:9242569 | C>R | B:883 | (137.36, 136.55, 136.87) | |
| 12:9242536 | G>R | B:894 | (138.61, 149.47, 119.88) | |
| 12:9242523 | T>R | B:898 | (129.52, 155.25, 121.06) | |
| 12:9242511 | P>L | B:902 | (116.67, 157.21, 116.94) | |
| 12:9241847 | P>T | B:907 | (100.96, 160.55, 121.58) | |
| 12:9241840 | G>A | B:909 | (95.80, 157.91, 124.08) | |
| 12:9241816 | N>S | B:917 | (83.40, 165.37, 103.66) | |
| 12:9241813 | S>C | B:918 | (82.93, 168.99, 100.92) | |
| 12:9232743 | rs200673507 | K>I | B:934 | (85.08, 172.03, 118.70) |
| 12:9232732 | rs201451491 | N>D | B:938 | (89.41, 165.50, 127.11) |
| 12:9232723 | E>K | B:941 | (99.19, 168.78, 125.28) | |
| 12:9232699 | S>P | B:949 | (92.07, 166.63, 100.55) | |
| 12:9232405 | rs200161546 | I>T | B:954 | (88.22, 161.28, 86.84) |
| 12:9232406 | rs368831189 | I>V | B:954 | (88.22, 161.28, 86.84) |
| 12:9232391 | M>V | B:959 | (87.13, 154.33, 83.62) | |
| 12:9232386 | Q>H | B:960 | (90.61, 152.03, 83.91) | |
| 12:9232360 | rs187174798 | P>L | B:969 | (75.06, 139.02, 71.62) |
| 12:9232349 | G>R | B:973 | (65.80, 135.61, 76.45) | |
| 12:9232336 | M>T | B:977 | (68.76, 141.51, 77.95) | |
| 12:9232325 | rs201667231 | A>S | B:981 | (71.84, 146.01, 78.80) |
| 12:9232312 | rs371544008 | Y>C | B:985 | (73.06, 151.26, 80.93) |
| 12:9232310 | V>I | B:986 | (79.32, 150.80, 79.05) | |
| 12:9232304 | D>N | B:988 | (75.43, 156.09, 78.96) | |
| 12:9232288 | rs200926793 | T>I | B:993 | (83.55, 160.02, 81.61) |
| 12:9232276 | T>I | B:997 | (87.77, 155.17, 71.77) | |
| 12:9232267 | I>T | B:1000 | (86.00, 150.63, 71.56) | |
| 12:9232268 | rs669 | I>V | B:1000 | (86.00, 150.63, 71.56) |
| 12:9232262 | S>P | B:1002 | (82.37, 151.05, 66.37) | |
| 12:9232258 | K>T | B:1003 | (84.70, 147.07, 68.01) | |
| 12:9232252 | rs558034541 | I>T | B:1005 | (77.24, 150.34, 67.77) |
| 12:9231907 | Y>H | B:1018 | (63.31, 135.71, 72.29) | |
| 12:9231891 | G>D | B:1023 | (54.51, 142.71, 73.17) | |
| 12:9231876 | F>C | B:1028 | (61.67, 129.70, 76.01) | |
| 12:9231867 | rs202210880 COSM3466397 |
R>Q | B:1031 | (59.37, 130.59, 69.96) |
| 12:9231864 | Y>C | B:1032 | (58.49, 126.96, 70.18) | |
| 12:9231854 | N>K | B:1035 | (52.26, 130.61, 75.55) | |
| 12:9231840 | W>L | B:1040 | (62.04, 142.25, 85.30) | |
| 12:9230422 | Q>K | B:1051 | (68.61, 154.16, 77.78) | |
| 12:9230415 | R>Q | B:1053 | (65.02, 155.96, 72.61) | |
| 12:9230412 | rs376352242 | A>D | B:1054 | (70.38, 157.35, 71.98) |
| 12:9230400 | rs371433665 | I>T | B:1058 | (64.77, 151.52, 68.57) |
| 12:9230392 | A>T | B:1061 | (56.52, 150.13, 67.94) | |
| 12:9230388 | H>L | B:1062 | (59.25, 147.55, 69.04) | |
| 12:9230307 | N>S | B:1089 | (65.38, 134.84, 89.59) | |
| 12:9230012 | G>E | B:1094 | (63.29, 142.37, 92.61) | |
| 12:9230013 | rs149872679 | G>R | B:1094 | (63.29, 142.37, 92.61) |
| 12:9229986 | rs113563450 | A>T | B:1103 | (58.67, 150.07, 91.44) |
| 12:9229971 | A>T | B:1108 | (60.58, 152.31, 83.54) | |
| 12:9229967 | L>R | B:1109 | (56.62, 153.91, 82.56) | |
| 12:9229956 | P>A | B:1113 | (60.07, 159.96, 77.83) | |
| 12:9229949 | T>R | B:1115 | (54.65, 162.00, 82.42) | |
| 12:9229519 | COSM3793031 | R>H | B:1122 | (45.74, 158.53, 86.79) |
| 12:9229520 | R>C | B:1122 | (45.74, 158.53, 86.79) | |
| 12:9229508 | F>L | B:1126 | (46.56, 156.03, 93.29) | |
| 12:9229492 | A>V | B:1131 | (53.58, 152.15, 100.14) | |
| 12:9229467 | COSM944405 | D>E | B:1139 | (60.56, 147.07, 110.71) |
| 12:9229453 | V>E | B:1144 | (65.64, 148.87, 103.05) | |
| 12:9229447 | T>N | B:1146 | (61.45, 148.77, 98.56) | |
| 12:9229427 | A>T | B:1153 | (60.08, 157.47, 91.61) | |
| 12:9229411 | G>V | B:1158 | (58.28, 165.36, 91.19) | |
| 12:9229407 | N>K | B:1159 | (56.05, 164.24, 94.62) | |
| 12:9229409 | N>D | B:1159 | (56.05, 164.24, 94.62) | |
| 12:9229399 | rs61730087 | K>R | B:1162 | (55.52, 162.44, 99.44) |
| 12:9229390 | rs200419261 | E>G | B:1165 | (58.37, 162.75, 103.63) |
| 12:9229385 | L>F | B:1167 | (65.53, 160.54, 100.84) | |
| 12:9229381 | K>T | B:1168 | (64.98, 163.28, 106.03) | |
| 12:9229363 | A>G | B:1174 | (71.97, 154.38, 106.64) | |
| 12:9229364 | A>T | B:1174 | (71.97, 154.38, 106.64) | |
| 12:9229361 | V>M | B:1175 | (75.58, 152.46, 106.74) | |
| 12:9227358 | R>H | B:1185 | (67.55, 143.64, 102.48) | |
| 12:9227337 | P>L | B:1192 | (65.78, 131.28, 104.90) | |
| 12:9227335 | V>L | B:1193 | (62.84, 127.62, 105.05) | |
| 12:9227320 | E>K | B:1198 | (64.83, 133.90, 96.52) | |
| 12:9227311 | COSM1283135 | A>T | B:1201 | (68.45, 141.03, 98.13) |
| 12:9227259 | T>M | B:1218 | (66.51, 163.13, 89.89) | |
| 12:9227256 | A>D | B:1219 | (65.89, 167.30, 90.88) | |
| 12:9227241 | T>N | B:1224 | (70.98, 171.27, 95.36) | |
| 12:9227238 | S>L | B:1225 | (75.21, 171.49, 96.67) | |
| 12:9227233 | D>Y | B:1227 | (71.20, 167.26, 96.81) | |
| 12:9227223 | rs370256138 | S>F | B:1230 | (74.95, 163.43, 99.78) |
| 12:9227218 | rs375665719 | T>A | B:1232 | (79.58, 162.73, 96.46) |
| 12:9227212 | I>V | B:1234 | (76.51, 157.49, 97.81) | |
| 12:9227209 | V>M | B:1235 | (80.06, 157.55, 94.47) | |
| 12:9227196 | rs61730090 | T>M | B:1239 | (84.09, 153.29, 92.65) |
| 12:9227166 | S>F | B:1249 | (77.91, 142.03, 90.83) | |
| 12:9225448 | rs376118057 | H>P | B:1259 | (71.51, 155.26, 84.73) |
| 12:9225428 | A>T | B:1266 | (76.78, 165.24, 84.39) | |
| 12:9225419 | F>L | B:1269 | (83.14, 165.63, 84.45) | |
| 12:9225416 | T>P | B:1270 | (83.10, 170.83, 82.61) | |
| 12:9225403 | K>T | B:1274 | (90.29, 174.54, 81.26) | |
| 12:9225395 | rs372114265 | Q>K | B:1277 | (91.41, 178.54, 91.86) |
| 12:9225389 | T>A | B:1279 | (91.65, 179.47, 98.07) | |
| 12:9225371 | T>S | B:1285 | (98.45, 183.83, 108.97) | |
| 12:9225346 | D>G | B:1293 | (93.61, 171.14, 85.25) | |
| 12:9225342 | N>K | B:1294 | (92.15, 168.97, 82.20) | |
| 12:9225334 | COSM1181115 | R>H | B:1297 | (89.25, 166.81, 87.71) |
| 12:9225335 | rs376258518 | R>C | B:1297 | (89.25, 166.81, 87.71) |
| 12:9225290 | rs140896462 | Y>H | B:1312 | (90.84, 177.04, 109.36) |
| 12:9225078 | S>Y | B:1327 | (91.04, 164.89, 108.55) | |
| 12:9225079 | S>T | B:1327 | (91.04, 164.89, 108.55) | |
| 12:9225064 | I>V | B:1332 | (90.83, 161.59, 124.22) | |
| 12:9225054 | E>G | B:1335 | (85.42, 159.17, 130.39) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:9266120 | COSM3466425 | P>S | B:36 | (108.04, 138.39, 57.75) |
| 12:9265054 | COSM3417261 | R>W | B:117 | (97.30, 139.19, 45.90) |
| 12:9264798 | COSM944425 | R>H | B:147 | (116.64, 153.45, 88.78) |
| 12:9264799 | COSM1177109 | R>C | B:147 | (116.64, 153.45, 88.78) |
| 12:9262615 | COSM180290 | R>H | B:174 | (96.62, 159.24, 90.24) |
| 12:9262610 | COSM944422 | A>T | B:176 | (102.38, 160.95, 92.23) |
| 12:9259122 | COSM1739858 | L>P | B:320 | (108.63, 123.88, 106.72) |
| 12:9254213 | COSM1283132 | E>K | B:442 | (105.31, 108.11, 83.47) |
| 12:9254179 | COSM1606750 | S>C | B:453 | (108.05, 112.74, 48.39) |
| 12:9251262 | COSM1181114 | R>C | B:598 | (120.27, 148.28, 94.29) |
| 12:9251204 | COSM1562418 | S>L | B:617 | (112.51, 140.44, 84.41) |
| 12:9246106 | COSM180286 | R>Q | B:732 | (129.94, 157.22, 116.68) |
| 12:9243952 | COSM1562419 | L>M | B:772 | (122.17, 151.30, 79.51) |
| 12:9242994 | COSM1181113 | G>R | B:852 | (129.83, 136.64, 123.47) |
| 12:9241829 | COSM1717903 | E>K | B:913 | (89.09, 160.74, 112.38) |
| 12:9231867 | COSM3466397 | R>Q | B:1031 | (59.37, 130.59, 69.96) |
| 12:9230353 | COSM1562421 | Q>K | B:1074 | (47.20, 148.27, 85.65) |
| 12:9229519 | COSM3793031 | R>H | B:1122 | (45.74, 158.53, 86.79) |
| 12:9229468 | COSM2045040 | D>G | B:1139 | (60.56, 147.07, 110.71) |
| 12:9225293 | COSM3466393 | E>K | B:1311 | (90.78, 181.18, 112.32) |