General Structure Information
| PDB ID | 3mph |
| HGNC Gene Label(s) | AOC1 |
| Structure Name | the structure of human diamine oxidase complexed with an inhibitor aminoguanidine |
| Resolution | 2.05Å |
| Reference | AUTH A.P.MCGRATH,T.CARADOC-DAVIES,C.A.COLLYER,J.M.GUSSTITL CORRELATION OF ACTIVE SITE METAL CONTENT IN HUMAN DIAMINETITL 2 OXIDASE WITH TRIHYDROXYPHENYLALANINE QUINONE COFACTORTITL 3 BIOGENESISREF BIOCHEMISTRY V. 49 8316 2010REFN ISSN 0006-2960PMID 20722416DOI 10.1021/BI1010915 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 709 |
| Number Of SNVs | 207 |
| Number Of Permutations | 56894 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.007 |
| p-value | 0.718 |
COSMIC
| Number Of Residues | 709 |
| Number Of SNVs | 14 |
| Number Of Permutations | 15719 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.11 |
| p-value | 0.74 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 207 |
| Number Of COSMIC SNVs | 15 |
| Optimal Distance Threshold | 26.0 |
| K Statistic | 0.085 |
| p-value | 0.407 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:150553652 | V>L | B:32 | (6.12, 0.83, 35.28) | |
| 7:150553674 | Q>L | B:39 | (3.63, 10.00, 21.72) | |
| 7:150553685 | A>T | B:43 | (7.22, 6.53, 18.13) | |
| 7:150553686 | A>G | B:43 | (7.22, 6.53, 18.13) | |
| 7:150553688 | V>M | B:44 | (6.49, 2.70, 17.98) | |
| 7:150553691 | H>N | B:45 | (3.58, 3.71, 13.37) | |
| 7:150553707 | S>F | B:50 | (11.80, 3.74, 9.17) | |
| 7:150553718 | L>V | B:54 | (8.90, -4.00, 7.35) | |
| 7:150553723 | R>S | B:55 | (6.95, -3.75, 2.03) | |
| 7:150553763 | V>M | B:69 | (1.33, -2.42, 12.52) | |
| 7:150553769 | COSM1731154 | L>F | B:71 | (-1.33, -4.29, 18.45) |
| 7:150553775 | E>K | B:73 | (0.11, -3.29, 23.76) | |
| 7:150553788 | P>L | B:77 | (8.22, -4.96, 32.67) | |
| 7:150553796 | Y>D | B:80 | (14.35, -9.51, 39.24) | |
| 7:150553824 | G>D | B:89 | (15.84, 1.18, 44.56) | |
| 7:150553831 | rs200206369 | R>S | B:91 | (16.43, 0.73, 38.06) |
| 7:150553832 | H>N | B:92 | (12.38, 2.92, 35.68) | |
| 7:150553833 | rs375216693 | H>R | B:92 | (12.38, 2.92, 35.68) |
| 7:150553838 | rs368493191 | V>M | B:94 | (13.43, -1.08, 29.97) |
| 7:150553841 | R>W | B:95 | (8.07, 2.05, 28.80) | |
| 7:150553842 | rs572549369 | R>Q | B:95 | (8.07, 2.05, 28.80) |
| 7:150553850 | rs144106544 | R>C | B:98 | (2.33, -6.73, 21.89) |
| 7:150553851 | rs79934982 | R>H | B:98 | (2.33, -6.73, 21.89) |
| 7:150553878 | E>G | B:107 | (5.92, -17.27, -0.80) | |
| 7:150553884 | P>H | B:109 | (1.70, -15.50, 4.82) | |
| 7:150553888 | rs373164869 | N>K | B:110 | (3.60, -14.38, 9.20) |
| 7:150553935 | COSM3923115 COSM3923116 |
R>Q | B:126 | (12.66, -8.03, 19.29) |
| 7:150553941 | L>P | B:128 | (8.40, -11.76, 20.68) | |
| 7:150553944 | S>F | B:129 | (7.21, -16.02, 20.65) | |
| 7:150553965 | S>Y | B:136 | (-1.71, -21.43, 11.26) | |
| 7:150553968 | COSM1549267 | S>F | B:137 | (-0.22, -17.44, 11.95) |
| 7:150553973 | A>S | B:139 | (-5.45, -18.11, 10.07) | |
| 7:150553974 | rs148613441 | A>E | B:139 | (-5.45, -18.11, 10.07) |
| 7:150553976 | S>P | B:140 | (-4.81, -16.86, 13.69) | |
| 7:150553977 | rs377655626 | S>L | B:140 | (-4.81, -16.86, 13.69) |
| 7:150554063 | COSM3879286 COSM3879287 |
T>A | B:169 | (-37.96, -12.28, 1.23) |
| 7:150554067 | T>I | B:170 | (-36.49, -8.85, 2.94) | |
| 7:150554090 | H>Y | B:178 | (-29.66, 3.41, -0.83) | |
| 7:150554093 | COSM3636151 COSM3636152 |
D>N | B:179 | (-32.99, 3.04, 3.58) |
| 7:150554112 | rs142034862 | T>S | B:185 | (-22.98, -11.28, 11.79) |
| 7:150554114 | rs201603660 COSM1131658 |
D>N | B:186 | (-18.77, -12.54, 11.66) |
| 7:150554124 | P>L | B:189 | (-14.73, -20.51, 15.13) | |
| 7:150554126 | rs374401802 | R>W | B:190 | (-13.53, -17.58, 11.30) |
| 7:150554127 | COSM1244043 COSM3942120 |
R>Q | B:190 | (-13.53, -17.58, 11.30) |
| 7:150554130 | G>D | B:191 | (-14.01, -23.92, 10.84) | |
| 7:150554132 | rs367977707 | V>M | B:192 | (-13.17, -27.74, 10.97) |
| 7:150554147 | rs370771602 COSM3411793 COSM3411794 |
R>C | B:197 | (-9.71, -16.79, 7.89) |
| 7:150554148 | COSM3698031 COSM3698032 |
R>H | B:197 | (-9.71, -16.79, 7.89) |
| 7:150554150 | R>C | B:198 | (-14.18, -22.77, 6.18) | |
| 7:150554166 | I>T | B:203 | (-27.72, -12.38, 6.33) | |
| 7:150554171 | rs199733722 | R>C | B:205 | (-34.39, -6.58, 7.81) |
| 7:150554172 | rs370764836 | R>H | B:205 | (-34.39, -6.58, 7.81) |
| 7:150554184 | G>D | B:209 | (-30.78, -3.39, 15.89) | |
| 7:150554207 | L>M | B:217 | (-29.46, -16.33, 4.34) | |
| 7:150554219 | V>M | B:221 | (-17.08, -17.26, 3.10) | |
| 7:150554233 | rs536155406 | S>R | B:225 | (-6.65, -15.80, 0.07) |
| 7:150554239 | D>E | B:227 | (-6.57, -12.67, -3.95) | |
| 7:150554244 | G>E | B:229 | (-10.78, -13.06, -5.61) | |
| 7:150554259 | E>G | B:234 | (-17.91, -23.13, 0.80) | |
| 7:150554261 | rs116444806 | Q>E | B:235 | (-22.89, -24.08, 1.67) |
| 7:150554263 | Q>H | B:235 | (-22.89, -24.08, 1.67) | |
| 7:150554281 | K>N | B:241 | (-33.27, -26.97, 3.76) | |
| 7:150554285 | rs376957182 | Y>N | B:243 | (-30.38, -24.46, -0.78) |
| 7:150554292 | S>I | B:245 | (-25.22, -22.04, -4.49) | |
| 7:150554294 | P>S | B:246 | (-25.95, -18.56, -4.49) | |
| 7:150554299 | rs200653281 | E>D | B:247 | (-26.09, -19.50, -8.20) |
| 7:150554309 | rs369508978 | R>W | B:251 | (-33.08, -23.83, -9.55) |
| 7:150554312 | K>E | B:252 | (-34.22, -24.85, -5.79) | |
| 7:150554315 | Y>H | B:253 | (-37.68, -17.94, -5.26) | |
| 7:150554324 | G>R | B:256 | (-40.89, -23.61, -6.13) | |
| 7:150554336 | V>M | B:260 | (-40.39, -18.49, 1.55) | |
| 7:150554396 | rs370340838 | P>S | B:280 | (-41.05, 1.63, 18.67) |
| 7:150554397 | P>L | B:280 | (-41.05, 1.63, 18.67) | |
| 7:150554405 | S>P | B:283 | (-34.65, -3.36, 18.17) | |
| 7:150554420 | COSM3411795 COSM3411796 |
R>C | B:288 | (-41.53, 0.20, 23.83) |
| 7:150554421 | rs543446294 | R>H | B:288 | (-41.53, 0.20, 23.83) |
| 7:150554423 | G>R | B:289 | (-45.62, 1.71, 27.25) | |
| 7:150554424 | G>E | B:289 | (-45.62, 1.71, 27.25) | |
| 7:150554446 | H>Q | B:296 | (-44.13, 11.55, 35.22) | |
| 7:150554453 | G>S | B:299 | (-34.00, 10.47, 40.17) | |
| 7:150554459 | rs376059379 COSM1739380 |
R>C | B:301 | (-28.40, 14.24, 41.64) |
| 7:150554460 | R>H | B:301 | (-28.40, 14.24, 41.64) | |
| 7:150554471 | rs370642540 | P>T | B:305 | (-19.89, 18.85, 47.01) |
| 7:150554474 | H>Y | B:306 | (-17.18, 18.52, 49.73) | |
| 7:150554477 | G>S | B:307 | (-14.88, 16.18, 46.03) | |
| 7:150554483 | R>C | B:309 | (-13.48, 10.86, 50.03) | |
| 7:150554495 | E>K | B:313 | (-1.95, 10.42, 39.49) | |
| 7:150554496 | E>G | B:313 | (-1.95, 10.42, 39.49) | |
| 7:150554502 | rs528697681 | N>I | B:315 | (-1.44, 5.08, 36.34) |
| 7:150554519 | G>S | B:321 | (-5.57, 2.60, 52.23) | |
| 7:150554520 | rs35929142 | G>D | B:321 | (-5.57, 2.60, 52.23) |
| 7:150554522 | W>R | B:322 | (-7.31, 0.10, 48.92) | |
| 7:150554529 | rs550644434 | F>Y | B:324 | (-4.92, 1.44, 42.75) |
| 7:150554532 | A>V | B:325 | (-2.11, 0.88, 39.49) | |
| 7:150554534 | rs529004056 | F>V | B:326 | (-5.07, 2.60, 36.27) |
| 7:150554538 | rs529653297 | R>Q | B:327 | (-2.38, -1.70, 31.59) |
| 7:150554544 | rs367694828 | R>H | B:329 | (-3.18, -5.86, 27.65) |
| 7:150554550 | S>F | B:331 | (-5.49, -7.05, 24.25) | |
| 7:150554553 | rs1049742 | S>F | B:332 | (-6.80, -8.04, 27.70) |
| 7:150554555 | COSM1449207 | G>R | B:333 | (-7.75, -5.27, 29.46) |
| 7:150554573 | V>M | B:339 | (-2.72, -3.62, 45.11) | |
| 7:150554582 | rs370019044 | G>S | B:342 | (-1.23, 0.02, 54.45) |
| 7:150554585 | COSM1449208 | G>R | B:343 | (1.58, -0.36, 52.75) |
| 7:150554588 | rs368116193 | E>K | B:344 | (1.23, -4.04, 53.75) |
| 7:150554591 | R>C | B:345 | (2.83, -5.66, 47.54) | |
| 7:150554595 | I>T | B:346 | (-2.75, -7.27, 48.64) | |
| 7:150554596 | rs371131201 | I>M | B:346 | (-2.75, -7.27, 48.64) |
| 7:150554598 | A>V | B:347 | (-1.70, -7.53, 44.52) | |
| 7:150554601 | Y>C | B:348 | (2.65, -7.25, 40.40) | |
| 7:150554612 | V>M | B:352 | (-9.26, -9.22, 32.23) | |
| 7:150554624 | rs374360642 | V>M | B:356 | (-16.10, -16.71, 26.33) |
| 7:150554625 | V>A | B:356 | (-16.10, -16.71, 26.33) | |
| 7:150554628 | COSM252314 | A>V | B:357 | (-19.49, -16.94, 24.14) |
| 7:150554657 | rs537143326 | M>L | B:367 | (-23.88, -25.24, 15.18) |
| 7:150554675 | rs191291587 | D>N | B:373 | (-14.15, -11.15, 23.04) |
| 7:150554681 | rs536600538 | G>S | B:375 | (-9.80, -11.51, 19.31) |
| 7:150554699 | V>I | B:381 | (-13.93, -2.02, 22.45) | |
| 7:150554720 | G>S | B:388 | (-25.11, 9.06, 34.69) | |
| 7:150554726 | rs201145932 | D>N | B:390 | (-22.30, 4.28, 31.79) |
| 7:150554729 | C>G | B:391 | (-20.75, 6.49, 35.26) | |
| 7:150554733 | P>L | B:392 | (-21.62, 8.36, 38.28) | |
| 7:150554757 | T>I | B:400 | (-7.17, 6.21, 26.23) | |
| 7:150554763 | H>R | B:402 | (-6.67, 2.13, 22.29) | |
| 7:150554773 | D>E | B:405 | (-7.44, -2.20, 12.92) | |
| 7:150554777 | rs369714726 | D>N | B:407 | (-4.16, 4.07, 9.84) |
| 7:150554782 | rs201220946 | D>E | B:408 | (-3.06, 6.76, 13.03) |
| 7:150554784 | P>L | B:409 | (-2.92, 6.72, 17.14) | |
| 7:150554786 | V>L | B:410 | (-7.48, 6.20, 18.28) | |
| 7:150554787 | V>A | B:410 | (-7.48, 6.20, 18.28) | |
| 7:150554792 | Y>H | B:412 | (-10.87, 5.13, 22.06) | |
| 7:150554796 | P>L | B:413 | (-13.46, 9.39, 24.54) | |
| 7:150554799 | rs542469455 | R>L | B:414 | (-16.33, 10.47, 28.51) |
| 7:150554841 | rs368886790 | R>Q | B:428 | (-18.59, -0.30, 60.86) |
| 7:150554843 | COSM3394608 COSM3394609 |
R>W | B:429 | (-25.98, -1.10, 62.47) |
| 7:150554844 | rs200294204 COSM3879293 COSM3879294 |
R>Q | B:429 | (-25.98, -1.10, 62.47) |
| 7:150554848 | rs372566702 | H>Q | B:430 | (-24.51, -2.33, 67.44) |
| 7:150554868 | G>D | B:437 | (-35.95, 1.57, 76.22) | |
| 7:150554874 | rs370458287 | F>S | B:439 | (-29.14, 4.36, 73.30) |
| 7:150554879 | rs529680843 | F>L | B:441 | (-23.44, 2.17, 71.47) |
| 7:150554883 | Y>C | B:442 | (-25.93, 3.84, 65.82) | |
| 7:150554886 | COSM599919 | A>E | B:443 | (-22.70, 2.62, 65.68) |
| 7:150554897 | G>S | B:447 | (-21.25, 3.30, 52.65) | |
| 7:150554898 | rs201145680 | G>V | B:447 | (-21.25, 3.30, 52.65) |
| 7:150554906 | L>V | B:450 | (-13.28, 3.27, 44.61) | |
| 7:150554916 | R>Q | B:453 | (-17.13, 1.24, 35.66) | |
| 7:150554934 | rs200566749 | Y>C | B:459 | (-21.07, -6.75, 16.59) |
| 7:150554937 | rs200630234 | N>S | B:460 | (-23.44, -8.06, 20.50) |
| 7:150554948 | I>L | B:464 | (-19.86, -3.30, 32.60) | |
| 7:150554949 | I>T | B:464 | (-19.86, -3.30, 32.60) | |
| 7:150554957 | F>L | B:467 | (-11.38, -3.96, 39.11) | |
| 7:150554969 | P>T | B:471 | (-13.16, 1.14, 53.10) | |
| 7:150554973 | N>S | B:472 | (-12.79, -3.17, 54.70) | |
| 7:150554975 | rs375457889 | G>R | B:473 | (-9.89, -4.21, 52.16) |
| 7:150554978 | rs368793407 | V>L | B:474 | (-12.72, -5.67, 50.57) |
| 7:150554985 | E>A | B:476 | (-15.76, -6.69, 44.16) | |
| 7:150554995 | rs45558339 | M>I | B:479 | (-18.95, -8.92, 34.22) |
| 7:150554997 | H>P | B:480 | (-21.75, -5.72, 35.23) | |
| 7:150555011 | COSM3928911 COSM3928912 |
V>I | B:485 | (-28.73, -11.22, 22.16) |
| 7:150555017 | rs374941578 | A>T | B:487 | (-29.30, -14.22, 17.17) |
| 7:150555032 | rs372093601 | P>S | B:492 | (-39.28, -25.05, 14.61) |
| 7:150555035 | E>K | B:493 | (-36.16, -27.36, 14.17) | |
| 7:150555038 | G>R | B:494 | (-34.46, -24.09, 17.70) | |
| 7:150555042 | L>P | B:495 | (-37.23, -24.28, 20.23) | |
| 7:150555044 | rs200166209 | R>C | B:496 | (-33.01, -29.25, 20.22) |
| 7:150555045 | R>H | B:496 | (-33.01, -29.25, 20.22) | |
| 7:150555050 | COSM293503 | G>S | B:498 | (-33.62, -21.95, 22.41) |
| 7:150555056 | rs567719730 COSM226613 |
R>C | B:500 | (-40.38, -17.63, 18.77) |
| 7:150555095 | L>M | B:513 | (-16.98, -18.42, 30.54) | |
| 7:150555098 | V>M | B:514 | (-14.67, -14.58, 32.55) | |
| 7:150555107 | R>C | B:517 | (-2.83, -13.27, 36.19) | |
| 7:150555108 | rs372090349 | R>H | B:517 | (-2.83, -13.27, 36.19) |
| 7:150555110 | V>I | B:518 | (-5.46, -13.25, 40.78) | |
| 7:150555113 | D>H | B:519 | (-0.34, -12.03, 41.18) | |
| 7:150555121 | D>E | B:521 | (2.00, -10.77, 46.00) | |
| 7:150555863 | S>I | B:528 | (1.12, -20.35, 50.88) | |
| 7:150555904 | P>S | B:542 | (-18.61, -32.34, 78.76) | |
| 7:150555914 | COSM1736239 | P>R | B:545 | (-22.00, -37.90, 80.65) |
| 7:150555919 | H>Y | B:547 | (-26.57, -36.75, 76.98) | |
| 7:150555922 | rs146188230 | R>C | B:548 | (-22.60, -37.80, 72.41) |
| 7:150555923 | R>H | B:548 | (-22.60, -37.80, 72.41) | |
| 7:150555925 | V>M | B:549 | (-21.57, -32.73, 71.52) | |
| 7:150555937 | T>A | B:553 | (-14.49, -28.66, 63.79) | |
| 7:150555938 | T>N | B:553 | (-14.49, -28.66, 63.79) | |
| 7:150555940 | L>V | B:554 | (-11.36, -25.34, 62.02) | |
| 7:150555950 | rs562456259 COSM3720680 COSM3720681 |
T>M | B:557 | (-6.19, -28.24, 53.82) |
| 7:150555956 | Y>C | B:559 | (-3.71, -27.22, 49.19) | |
| 7:150555968 | rs374705415 | R>H | B:563 | (-3.33, -30.97, 39.21) |
| 7:150555974 | A>V | B:565 | (-4.85, -26.38, 43.49) | |
| 7:150555982 | rs200258999 COSM3950183 COSM3950184 |
R>C | B:568 | (-11.91, -29.86, 38.53) |
| 7:150555983 | rs370388971 | R>H | B:568 | (-11.91, -29.86, 38.53) |
| 7:150555989 | rs201521612 | K>R | B:570 | (-16.92, -31.52, 40.13) |
| 7:150555992 | R>K | B:571 | (-15.56, -30.31, 42.94) | |
| 7:150556003 | K>Q | B:575 | (-16.99, -22.81, 51.61) | |
| 7:150556010 | L>P | B:577 | (-10.40, -20.16, 48.98) | |
| 7:150556028 | Q>R | B:583 | (3.91, -12.27, 58.09) | |
| 7:150556051 | R>C | B:591 | (-0.51, -11.02, 57.64) | |
| 7:150556052 | rs201157437 | R>H | B:591 | (-0.51, -11.02, 57.64) |
| 7:150556055 | rs6943147 | T>R | B:592 | (-4.36, -14.00, 54.97) |
| 7:150556060 | R>C | B:594 | (-12.07, -15.50, 51.89) | |
| 7:150556078 | COSM3928915 COSM3928916 |
M>L | B:600 | (-23.43, -19.07, 38.17) |
| 7:150556079 | M>T | B:600 | (-23.43, -19.07, 38.17) | |
| 7:150556090 | V>L | B:604 | (-19.28, -25.97, 28.78) | |
| 7:150556096 | P>T | B:606 | (-15.88, -31.62, 26.22) | |
| 7:150556118 | Q>P | B:613 | (-6.76, -27.07, 23.64) | |
| 7:150557599 | A>T | B:623 | (-6.05, -22.33, 39.71) | |
| 7:150557612 | Y>C | B:627 | (5.47, -15.37, 38.12) | |
| 7:150557614 | R>W | B:628 | (7.00, -20.18, 35.22) | |
| 7:150557615 | rs377656190 | R>Q | B:628 | (7.00, -20.18, 35.22) |
| 7:150557629 | C>S | B:633 | (-1.41, -14.83, 29.51) | |
| 7:150557639 | rs374377255 | S>I | B:636 | (-4.61, -14.85, 22.67) |
| 7:150557665 | rs1049793 | H>D | B:645 | (-2.73, -25.26, 17.66) |
| 7:150557667 | H>Q | B:645 | (-2.73, -25.26, 17.66) | |
| 7:150557674 | rs561950163 | V>M | B:648 | (-1.65, -20.31, 25.41) |
| 7:150557704 | rs150589026 | E>K | B:658 | (5.55, -26.35, 39.84) |
| 7:150557707 | rs35070995 | N>H | B:659 | (6.30, -26.75, 45.32) |
| 7:150557708 | N>S | B:659 | (6.30, -26.75, 45.32) | |
| 7:150557711 | COSM73540 | I>T | B:660 | (2.54, -24.39, 45.69) |
| 7:150558040 | A>T | B:667 | (-4.66, -16.98, 40.95) | |
| 7:150558050 | rs368330728 COSM3260942 COSM3879301 |
T>M | B:670 | (-13.42, -19.31, 35.99) |
| 7:150558092 | rs79405466 | N>T | B:684 | (-30.81, -4.97, 25.44) |
| 7:150558093 | rs200590665 | N>K | B:684 | (-30.81, -4.97, 25.44) |
| 7:150558095 | T>R | B:685 | (-29.40, -8.17, 28.26) | |
| 7:150558098 | A>V | B:686 | (-30.05, -6.74, 31.82) | |
| 7:150558103 | COSM485045 | P>T | B:688 | (-30.19, -6.91, 36.73) |
| 7:150558107 | G>E | B:689 | (-28.23, -10.78, 37.77) | |
| 7:150558111 | rs576525961 | N>K | B:690 | (-26.83, -10.61, 34.42) |
| 7:150558115 | rs201551770 | V>M | B:692 | (-19.93, -12.53, 37.40) |
| 7:150558130 | rs368688152 | R>W | B:697 | (-13.20, -11.24, 52.56) |
| 7:150558131 | rs371721868 | R>Q | B:697 | (-13.20, -11.24, 52.56) |
| 7:150558133 | P>S | B:698 | (-9.13, -9.26, 54.65) | |
| 7:150558160 | S>A | B:707 | (-12.40, 0.73, 58.81) | |
| 7:150558187 | rs199683372 COSM2152325 COSM3411799 |
V>M | B:716 | (-25.32, 8.18, 69.03) |
| 7:150558196 | COSM3832289 COSM3832290 |
R>W | B:719 | (-25.34, 12.00, 77.37) |
| 7:150558197 | rs541946592 | R>Q | B:719 | (-25.34, 12.00, 77.37) |
| 7:150558215 | Y>C | B:725 | (-21.86, 13.44, 71.74) | |
| 7:150558217 | V>I | B:726 | (-23.79, 13.23, 67.69) | |
| 7:150558223 | COSM1312835 | R>C | B:728 | (-20.37, 13.76, 63.60) |
| 7:150558224 | rs369523596 | R>H | B:728 | (-20.37, 13.76, 63.60) |
| 7:150558238 | D>N | B:733 | (-22.75, 17.71, 54.23) | |
| 7:150558240 | rs139662545 | D>E | B:733 | (-22.75, 17.71, 54.23) |
| 7:150558251 | rs377702850 | S>L | B:737 | (-23.69, 20.30, 43.69) |
| 7:150558262 | P>A | B:741 | (-23.54, 19.69, 31.76) | |
| 7:150558276 | N>K | B:745 | (-18.40, 12.91, 20.89) | |
| 7:150558289 | P>T | B:750 | (-6.95, 10.44, 15.28) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:150553856 | COSM3879281 | V>I | B:100 | (1.35, -7.24, 16.22) |
| 7:150553935 | COSM3923116 | R>Q | B:126 | (12.66, -8.03, 19.29) |
| 7:150554070 | COSM1187466 | G>V | B:171 | (-37.06, -5.50, 1.16) |
| 7:150554100 | COSM4360688 | C>Y | B:181 | (-29.32, -2.44, 3.45) |
| 7:150554127 | COSM1244043 | R>Q | B:190 | (-13.53, -17.58, 11.30) |
| 7:150554255 | COSM3260903 | V>M | B:233 | (-19.84, -18.85, -1.42) |
| 7:150554484 | COSM4389125 | R>H | B:309 | (-13.48, 10.86, 50.03) |
| 7:150554802 | COSM1721421 | A>V | B:415 | (-12.68, 4.87, 28.56) |
| 7:150554840 | COSM366682 | R>W | B:428 | (-18.59, -0.30, 60.86) |
| 7:150554964 | COSM3663025 | F>S | B:469 | (-11.03, -0.87, 45.34) |
| 7:150556055 | COSM4590737 | T>R | B:592 | (-4.36, -14.00, 54.97) |
| 7:150557632 | COSM4360728 | S>C | B:634 | (-4.90, -17.39, 29.67) |
| 7:150557656 | COSM3396808 | D>N | B:642 | (-6.21, -21.76, 15.99) |
| 7:150557665 | COSM150423 | H>D | B:645 | (-2.73, -25.26, 17.66) |
| 7:150557704 | COSM4166986 | E>K | B:658 | (5.55, -26.35, 39.84) |
| 7:150558050 | COSM3879301 | T>M | B:670 | (-13.42, -19.31, 35.99) |
| 7:150558059 | COSM3260943 | F>S | B:673 | (-23.76, -16.08, 33.02) |
| 7:150558187 | COSM2152325 | V>M | B:716 | (-25.32, 8.18, 69.03) |