General Structure Information
| PDB ID | 4boc |
| HGNC Gene Label(s) | POLRMT |
| Structure Name | structure of mitochondrial rna polymerase elongation complex |
| Resolution | 2.65Å |
| Reference | AUTH K.SCHWINGHAMMER,A.C.M.CHEUNG,Y.I.MOROZOV,K.AGARONYAN,AUTH 2 D.TEMIAKOV,P.CRAMERTITL STRUCTURE OF HUMAN MITOCHONDRIAL RNA POLYMERASE ELONGATIONTITL 2 COMPLEXREF NAT.STRUCT.MOL.BIOL. V. 20 1298 2013REFN ISSN 1545-9993PMID 24096365DOI 10.1038/NSMB.2683 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 989 |
| Number Of SNVs | 315 |
| Number Of Permutations | 71868 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.05 |
| p-value | 0.475 |
COSMIC
| Number Of Residues | 989 |
| Number Of SNVs | 15 |
| Number Of Permutations | 22704 |
| Optimal Distance Threshold | 35.0 |
| K Statistic | 0.267 |
| p-value | 0.353 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 315 |
| Number Of COSMIC SNVs | 17 |
| Optimal Distance Threshold | 35.0 |
| K Statistic | -0.112 |
| p-value | 0.264 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:629689 | R>G | A:225 | (38.60, 216.26, 100.86) | |
| 19:629679 | A>V | A:228 | (40.04, 213.33, 94.07) | |
| 19:629659 | L>F | A:235 | (46.58, 210.75, 86.74) | |
| 19:629653 | D>H | A:237 | (49.05, 203.61, 87.86) | |
| 19:629643 | P>L | A:240 | (47.67, 199.54, 94.85) | |
| 19:629638 | A>T | A:242 | (43.42, 203.37, 95.92) | |
| 19:629628 | L>Q | A:245 | (41.60, 204.41, 101.06) | |
| 19:629605 | rs145312875 | R>W | A:253 | (28.90, 199.90, 110.96) |
| 19:629595 | rs140683573 | R>Q | A:256 | (30.42, 200.47, 103.93) |
| 19:629590 | L>V | A:258 | (31.89, 208.93, 103.17) | |
| 19:629583 | T>M | A:260 | (30.14, 207.16, 96.01) | |
| 19:629573 | M>I | A:263 | (34.39, 207.07, 95.01) | |
| 19:629566 | A>T | A:266 | (37.73, 204.96, 89.76) | |
| 19:629544 | R>Q | A:273 | (42.96, 202.54, 82.53) | |
| 19:629545 | R>W | A:273 | (42.96, 202.54, 82.53) | |
| 19:625254 | rs576840960 | G>R | A:275 | (44.02, 193.98, 83.61) |
| 19:625236 | V>I | A:281 | (35.56, 191.34, 90.39) | |
| 19:625221 | M>V | A:286 | (33.17, 196.58, 97.43) | |
| 19:625212 | rs141414744 | D>N | A:289 | (28.37, 194.84, 100.13) |
| 19:625178 | rs556603744 COSM1395938 |
A>V | A:300 | (32.99, 200.20, 80.67) |
| 19:625147 | rs375868141 | D>E | A:310 | (41.37, 188.31, 74.75) |
| 19:625140 | COSM1395937 | A>T | A:313 | (32.41, 185.53, 74.64) |
| 19:625137 | G>R | A:314 | (30.77, 184.56, 77.62) | |
| 19:625134 | T>A | A:315 | (32.46, 186.66, 80.21) | |
| 19:625131 | rs115263594 | I>V | A:316 | (31.85, 189.64, 76.91) |
| 19:625128 | E>K | A:317 | (26.46, 187.62, 76.26) | |
| 19:625124 | R>K | A:318 | (28.10, 186.41, 81.81) | |
| 19:624890 | rs143022703 | M>I | A:323 | (24.21, 196.10, 80.61) |
| 19:624885 | Q>R | A:325 | (18.52, 192.14, 83.60) | |
| 19:624879 | rs549647427 | G>E | A:327 | (18.32, 199.11, 81.56) |
| 19:624874 | K>Q | A:329 | (20.33, 200.73, 76.42) | |
| 19:624855 | T>I | A:335 | (27.05, 208.81, 74.54) | |
| 19:624850 | rs201346718 | V>I | A:337 | (31.11, 207.31, 79.30) |
| 19:624828 | R>Q | A:344 | (37.00, 206.15, 72.97) | |
| 19:624829 | R>G | A:344 | (37.00, 206.15, 72.97) | |
| 19:624825 | rs373911845 | A>V | A:345 | (39.27, 200.64, 71.81) |
| 19:624823 | T>A | A:346 | (39.65, 198.31, 74.85) | |
| 19:624808 | V>M | A:351 | (31.41, 194.50, 71.81) | |
| 19:624805 | H>Y | A:352 | (33.32, 194.42, 67.55) | |
| 19:624801 | K>R | A:353 | (34.12, 188.15, 70.16) | |
| 19:624798 | V>A | A:354 | (29.40, 189.11, 71.26) | |
| 19:624789 | T>I | A:357 | (27.25, 193.73, 63.48) | |
| 19:624777 | rs141638617 | P>L | A:361 | (27.06, 206.76, 65.71) |
| 19:624765 | P>L | A:365 | (29.02, 216.07, 60.32) | |
| 19:624766 | P>S | A:365 | (29.02, 216.07, 60.32) | |
| 19:624760 | rs146221322 | P>S | A:367 | (28.11, 222.36, 62.75) |
| 19:624757 | rs141630265 | V>I | A:368 | (27.54, 226.17, 60.30) |
| 19:624753 | COSM1740494 COSM1740495 |
N>S | A:369 | (26.30, 229.88, 63.55) |
| 19:624747 | S>F | A:371 | (22.77, 233.61, 63.68) | |
| 19:624744 | K>R | A:372 | (19.44, 237.47, 61.78) | |
| 19:624735 | rs138982788 | R>K | A:375 | (22.76, 233.76, 58.63) |
| 19:624720 | K>M | A:380 | (30.26, 228.62, 52.51) | |
| 19:623588 | rs149179731 | Y>H | A:386 | (39.44, 235.29, 55.54) |
| 19:623576 | rs199567642 | H>Y | A:390 | (55.04, 239.50, 58.30) |
| 19:623555 | Q>K | A:397 | (57.64, 226.01, 61.67) | |
| 19:623545 | F>S | A:400 | (55.48, 225.85, 67.82) | |
| 19:623546 | rs41553913 | F>L | A:400 | (55.48, 225.85, 67.82) |
| 19:623539 | K>T | A:402 | (61.68, 230.25, 70.30) | |
| 19:623505 | rs201389191 COSM1395883 |
C>W | A:413 | (64.29, 234.73, 82.17) |
| 19:623495 | rs142443929 | V>M | A:417 | (65.38, 247.95, 82.90) |
| 19:623482 | rs375344258 | T>M | A:421 | (74.14, 252.31, 90.64) |
| 19:623473 | rs529162007 | S>N | A:424 | (81.61, 244.90, 92.98) |
| 19:623460 | K>N | A:428 | (81.93, 239.71, 94.11) | |
| 19:623458 | rs147681201 | H>R | A:429 | (79.81, 238.60, 100.13) |
| 19:623459 | H>D | A:429 | (79.81, 238.60, 100.13) | |
| 19:623455 | A>V | A:430 | (75.94, 238.95, 98.01) | |
| 19:622984 | COSM1680447 COSM1680448 |
R>Q | A:431 | (75.80, 238.39, 92.86) |
| 19:622978 | rs144435085 | T>N | A:433 | (75.93, 234.53, 100.35) |
| 19:622973 | K>E | A:435 | (75.35, 229.78, 94.82) | |
| 19:622964 | rs553666754 | R>W | A:438 | (69.48, 230.81, 95.82) |
| 19:622961 | rs535297732 | D>N | A:439 | (73.11, 225.48, 96.79) |
| 19:622945 | rs148655029 | A>V | A:444 | (66.06, 221.04, 101.86) |
| 19:622943 | L>V | A:445 | (62.95, 222.08, 99.45) | |
| 19:622936 | rs144179084 | R>Q | A:447 | (65.97, 217.07, 103.19) |
| 19:622934 | rs368583434 | A>T | A:448 | (60.99, 217.92, 102.49) |
| 19:622927 | R>Q | A:450 | (61.80, 211.83, 98.70) | |
| 19:622921 | rs537749403 | T>S | A:452 | (55.93, 215.26, 102.99) |
| 19:622917 | K>N | A:453 | (56.01, 212.24, 98.88) | |
| 19:622912 | R>H | A:455 | (54.10, 213.24, 106.47) | |
| 19:622913 | rs149951255 | R>C | A:455 | (54.10, 213.24, 106.47) |
| 19:622903 | rs375940237 | R>H | A:458 | (54.01, 206.87, 106.58) |
| 19:622901 | E>Q | A:459 | (48.27, 209.83, 106.41) | |
| 19:622885 | R>Q | A:464 | (42.24, 209.44, 106.34) | |
| 19:622886 | R>W | A:464 | (42.24, 209.44, 106.34) | |
| 19:622881 | F>L | A:465 | (42.70, 212.42, 102.02) | |
| 19:622871 | P>S | A:469 | (48.28, 211.35, 95.19) | |
| 19:622847 | rs370315002 | R>S | A:477 | (64.99, 218.28, 90.62) |
| 19:622837 | rs139063297 | V>A | A:480 | (62.11, 222.27, 94.18) |
| 19:622835 | rs377471726 | R>W | A:481 | (62.86, 223.30, 88.83) |
| 19:622830 | rs138594532 | M>I | A:482 | (57.42, 225.73, 92.02) |
| 19:622828 | L>P | A:483 | (58.79, 226.05, 95.81) | |
| 19:622829 | L>V | A:483 | (58.79, 226.05, 95.81) | |
| 19:622826 | L>V | A:484 | (63.50, 227.82, 94.64) | |
| 19:622737 | P>S | A:491 | (56.69, 239.97, 98.15) | |
| 19:622733 | A>V | A:492 | (59.14, 242.22, 101.05) | |
| 19:622721 | S>F | A:496 | (48.20, 236.33, 101.35) | |
| 19:622712 | T>I | A:499 | (47.08, 234.40, 97.56) | |
| 19:622707 | A>T | A:501 | (48.01, 228.78, 98.14) | |
| 19:622698 | L>V | A:504 | (51.86, 227.23, 95.21) | |
| 19:622694 | rs145961388 | S>T | A:505 | (47.73, 224.92, 93.32) |
| 19:622671 | rs574244685 | V>M | A:513 | (48.97, 219.61, 82.34) |
| 19:622650 | S>G | A:520 | (51.57, 211.44, 76.09) | |
| 19:622646 | G>A | A:521 | (52.67, 212.73, 72.71) | |
| 19:622634 | rs555948538 | A>V | A:525 | (50.76, 216.10, 68.16) |
| 19:622627 | COSM1526580 | Q>H | A:527 | (55.28, 219.68, 67.34) |
| 19:622628 | Q>R | A:527 | (55.28, 219.68, 67.34) | |
| 19:622608 | L>F | A:534 | (51.34, 227.86, 60.50) | |
| 19:622592 | rs143834673 | S>F | A:539 | (53.41, 234.24, 53.27) |
| 19:622589 | D>G | A:540 | (55.31, 230.79, 52.22) | |
| 19:622587 | rs56226067 | A>S | A:541 | (51.23, 229.39, 52.22) |
| 19:622373 | V>L | A:543 | (44.72, 226.66, 52.17) | |
| 19:622367 | rs115950441 | E>K | A:545 | (38.51, 224.98, 50.69) |
| 19:622354 | P>L | A:549 | (41.59, 230.22, 62.09) | |
| 19:622336 | rs2238549 | E>A | A:555 | (39.25, 221.05, 58.49) |
| 19:622328 | A>T | A:558 | (40.15, 216.75, 65.75) | |
| 19:622304 | rs41545023 | P>S | A:566 | (39.30, 221.04, 87.89) |
| 19:622261 | A>V | A:580 | (53.97, 226.86, 101.88) | |
| 19:622232 | rs369539699 | P>S | A:590 | (72.28, 232.87, 108.51) |
| 19:622207 | rs61745193 | R>H | A:598 | (80.56, 232.95, 112.38) |
| 19:622204 | rs139080005 | S>F | A:599 | (77.24, 232.63, 110.51) |
| 19:622201 | S>F | A:600 | (76.05, 230.54, 114.00) | |
| 19:622187 | V>L | A:605 | (63.76, 232.80, 105.11) | |
| 19:622175 | rs372491457 | V>M | A:609 | (52.66, 238.21, 109.82) |
| 19:622162 | R>H | A:613 | (43.59, 247.39, 108.25) | |
| 19:622163 | R>C | A:613 | (43.59, 247.39, 108.25) | |
| 19:621845 | I>T | A:618 | (44.77, 238.33, 106.95) | |
| 19:621843 | G>S | A:619 | (47.64, 235.98, 106.75) | |
| 19:621830 | rs370122679 | P>L | A:623 | (60.23, 238.06, 103.84) |
| 19:621831 | P>A | A:623 | (60.23, 238.06, 103.84) | |
| 19:621825 | P>T | A:625 | (64.46, 241.45, 107.09) | |
| 19:621822 | A>T | A:626 | (68.14, 239.97, 105.90) | |
| 19:621801 | K>E | A:633 | (73.83, 244.20, 99.34) | |
| 19:621797 | A>V | A:634 | (72.87, 241.09, 94.85) | |
| 19:621794 | A>G | A:635 | (71.79, 243.01, 92.17) | |
| 19:621770 | A>V | A:643 | (54.57, 231.58, 80.49) | |
| 19:621768 | V>M | A:644 | (50.78, 232.20, 81.17) | |
| 19:621763 | D>E | A:645 | (51.98, 236.08, 83.07) | |
| 19:621749 | C>Y | A:650 | (53.43, 231.97, 68.66) | |
| 19:621746 | P>L | A:651 | (50.72, 232.31, 66.50) | |
| 19:621744 | P>T | A:652 | (47.72, 232.08, 69.33) | |
| 19:621741 | rs140843727 | L>V | A:653 | (46.19, 227.49, 70.24) |
| 19:621734 | W>S | A:655 | (39.90, 230.18, 72.72) | |
| 19:621731 | rs150982430 | T>K | A:656 | (38.08, 225.10, 69.85) |
| 19:621728 | COSM1002848 COSM3540876 |
S>L | A:657 | (36.45, 225.18, 73.55) |
| 19:621729 | S>P | A:657 | (36.45, 225.18, 73.55) | |
| 19:621725 | P>L | A:658 | (35.34, 226.44, 76.76) | |
| 19:621721 | H>Q | A:659 | (37.99, 222.97, 77.02) | |
| 19:621719 | COSM1526581 | S>C | A:660 | (40.33, 224.71, 73.88) |
| 19:621700 | S>R | A:666 | (49.15, 225.98, 79.42) | |
| 19:621698 | P>L | A:667 | (45.70, 225.57, 81.21) | |
| 19:621669 | A>T | A:677 | (32.67, 229.73, 87.82) | |
| 19:621651 | L>V | A:683 | (25.69, 227.60, 80.73) | |
| 19:621638 | C>Y | A:687 | (25.44, 225.64, 74.93) | |
| 19:621618 | rs201658953 | G>S | A:694 | (31.77, 234.11, 67.56) |
| 19:621603 | rs376907483 | L>V | A:699 | (38.59, 235.71, 71.44) |
| 19:621567 | rs200645726 | G>R | A:711 | (62.26, 251.41, 69.98) |
| 19:621561 | rs10421235 | V>L | A:713 | (59.37, 254.97, 72.42) |
| 19:621443 | P>L | A:752 | (54.66, 268.72, 122.60) | |
| 19:621437 | R>H | A:754 | (55.31, 271.86, 117.15) | |
| 19:621406 | H>Q | A:764 | (52.71, 262.83, 103.04) | |
| 19:621390 | R>W | A:770 | (54.11, 253.77, 101.35) | |
| 19:621379 | H>Q | A:773 | (58.35, 250.96, 95.46) | |
| 19:621368 | A>G | A:777 | (57.57, 248.19, 90.09) | |
| 19:621351 | L>F | A:783 | (59.87, 248.87, 80.68) | |
| 19:621341 | A>V | A:786 | (59.75, 245.44, 76.22) | |
| 19:621339 | Q>E | A:787 | (64.44, 245.60, 76.27) | |
| 19:621336 | H>Y | A:788 | (62.64, 239.72, 76.30) | |
| 19:621330 | R>W | A:790 | (64.08, 246.31, 71.67) | |
| 19:621324 | R>S | A:792 | (61.58, 238.57, 70.51) | |
| 19:621316 | COSM1659904 COSM1659905 |
F>L | A:794 | (54.73, 240.60, 70.63) |
| 19:621306 | H>Y | A:798 | (42.52, 238.34, 73.78) | |
| 19:621300 | M>V | A:800 | (35.33, 236.23, 77.63) | |
| 19:621291 | R>C | A:803 | (30.39, 241.46, 82.02) | |
| 19:621288 | G>S | A:804 | (31.98, 239.31, 76.94) | |
| 19:621285 | rs561134333 | R>C | A:805 | (33.68, 244.32, 78.04) |
| 19:621282 | T>S | A:806 | (37.42, 241.21, 75.35) | |
| 19:621276 | P>S | A:808 | (44.30, 240.89, 77.31) | |
| 19:621269 | P>L | A:810 | (49.06, 238.80, 78.60) | |
| 19:621270 | rs201364510 | P>S | A:810 | (49.06, 238.80, 78.60) |
| 19:621267 | P>A | A:811 | (49.05, 241.03, 82.39) | |
| 19:621259 | COSM3540874 COSM3540875 |
F>L | A:813 | (53.87, 244.82, 77.08) |
| 19:621260 | F>C | A:813 | (53.87, 244.82, 77.08) | |
| 19:621256 | N>K | A:814 | (48.69, 245.31, 77.32) | |
| 19:621258 | N>D | A:814 | (48.69, 245.31, 77.32) | |
| 19:621249 | G>S | A:817 | (46.86, 250.78, 78.73) | |
| 19:621239 | V>A | A:820 | (53.99, 254.64, 78.11) | |
| 19:621240 | V>M | A:820 | (53.99, 254.64, 78.11) | |
| 19:621233 | R>Q | A:822 | (47.56, 252.45, 74.66) | |
| 19:621234 | R>W | A:822 | (47.56, 252.45, 74.66) | |
| 19:621224 | L>P | A:825 | (52.75, 248.42, 71.32) | |
| 19:621215 | A>G | A:828 | (54.26, 243.75, 62.86) | |
| 19:621216 | A>S | A:828 | (54.26, 243.75, 62.86) | |
| 19:621207 | R>C | A:831 | (47.93, 247.46, 54.91) | |
| 19:621203 | rs542968148 COSM1395784 |
P>L | A:832 | (50.39, 250.22, 52.31) |
| 19:621200 | L>H | A:833 | (49.47, 254.88, 53.99) | |
| 19:621198 | G>S | A:834 | (47.59, 255.33, 50.42) | |
| 19:621194 | rs574836418 | P>L | A:835 | (44.93, 257.29, 49.13) |
| 19:621192 | H>Y | A:836 | (42.67, 258.72, 51.82) | |
| 19:621181 | D>E | A:839 | (45.09, 262.48, 55.70) | |
| 19:621179 | W>S | A:840 | (42.02, 258.71, 58.88) | |
| 19:621177 | rs556290665 | L>V | A:841 | (48.68, 259.04, 60.33) |
| 19:621173 | rs55797255 | K>R | A:842 | (48.13, 264.11, 59.29) |
| 19:621171 | I>V | A:843 | (43.08, 262.94, 61.88) | |
| 19:621153 | T>A | A:849 | (46.73, 266.40, 70.95) | |
| 19:621147 | L>M | A:851 | (44.61, 270.57, 70.91) | |
| 19:621141 | K>Q | A:853 | (38.51, 267.04, 71.76) | |
| 19:621131 | P>L | A:856 | (35.89, 269.34, 62.16) | |
| 19:621126 | rs559084202 | R>W | A:858 | (36.79, 269.34, 57.30) |
| 19:621120 | R>C | A:860 | (40.24, 266.83, 63.88) | |
| 19:621107 | COSM1395775 | A>V | A:864 | (48.58, 269.13, 61.16) |
| 19:621108 | A>T | A:864 | (48.58, 269.13, 61.16) | |
| 19:621101 | E>V | A:866 | (48.68, 274.81, 60.95) | |
| 19:621090 | rs139383492 | D>N | A:870 | (56.27, 271.52, 66.11) |
| 19:621087 | I>V | A:871 | (54.91, 266.99, 63.98) | |
| 19:621074 | A>V | A:875 | (60.49, 263.23, 66.03) | |
| 19:621075 | COSM1221531 | A>T | A:875 | (60.49, 263.23, 66.03) |
| 19:621072 | D>H | A:876 | (63.74, 264.76, 64.67) | |
| 19:621068 | Q>R | A:877 | (65.19, 266.82, 67.97) | |
| 19:621069 | COSM3540872 COSM3540873 |
Q>E | A:877 | (65.19, 266.82, 67.97) |
| 19:621066 | P>S | A:878 | (62.45, 264.01, 71.37) | |
| 19:621059 | rs146894577 | T>M | A:880 | (66.70, 268.06, 72.56) |
| 19:620487 | G>C | A:881 | (63.75, 270.37, 71.52) | |
| 19:620458 | E>D | A:890 | (47.48, 260.95, 75.25) | |
| 19:620457 | rs374317205 | P>S | A:891 | (52.21, 262.33, 75.42) |
| 19:620435 | rs143868040 | C>S | A:898 | (55.26, 262.34, 65.13) |
| 19:620423 | rs578230125 | A>V | A:902 | (58.09, 261.61, 59.43) |
| 19:620418 | rs552985137 | A>T | A:904 | (55.76, 259.17, 55.63) |
| 19:620411 | R>H | A:906 | (61.30, 262.59, 56.48) | |
| 19:620403 | D>N | A:909 | (55.38, 257.10, 47.53) | |
| 19:620393 | rs143734190 | A>V | A:912 | (53.86, 253.32, 49.67) |
| 19:620375 | P>L | A:918 | (47.91, 251.76, 65.48) | |
| 19:620376 | rs569741427 | P>A | A:918 | (47.91, 251.76, 65.48) |
| 19:620373 | rs78517836 | V>I | A:919 | (44.42, 254.44, 63.69) |
| 19:620367 | Q>E | A:921 | (38.05, 255.68, 65.14) | |
| 19:620073 | S>C | A:924 | (31.00, 258.85, 72.32) | |
| 19:620070 | C>S | A:925 | (29.35, 257.82, 75.79) | |
| 19:620049 | A>V | A:932 | (19.83, 255.63, 72.06) | |
| 19:620020 | A>S | A:942 | (22.28, 263.70, 69.15) | |
| 19:620014 | V>L | A:944 | (25.91, 260.25, 71.77) | |
| 19:620005 | rs151235528 | E>K | A:947 | (21.79, 262.48, 64.08) |
| 19:620001 | P>R | A:948 | (24.05, 262.69, 61.47) | |
| 19:620002 | P>S | A:948 | (24.05, 262.69, 61.47) | |
| 19:619998 | S>L | A:949 | (26.94, 266.26, 62.57) | |
| 19:619990 | P>A | A:952 | (31.86, 266.90, 67.18) | |
| 19:619982 | rs200607630 | D>E | A:954 | (31.23, 266.83, 74.07) |
| 19:619971 | G>D | A:958 | (27.18, 269.67, 78.47) | |
| 19:619965 | A>V | A:960 | (29.68, 271.29, 82.42) | |
| 19:619962 | rs376728644 COSM1221534 |
A>V | A:961 | (27.45, 273.80, 81.13) |
| 19:619752 | R>H | A:967 | (27.69, 277.99, 90.08) | |
| 19:619753 | rs200837893 | R>C | A:967 | (27.69, 277.99, 90.08) |
| 19:619747 | Q>K | A:969 | (20.50, 278.74, 89.51) | |
| 19:619740 | A>G | A:971 | (25.09, 281.29, 94.23) | |
| 19:619735 | rs548038717 | R>W | A:973 | (18.48, 279.76, 96.40) |
| 19:619725 | R>P | A:976 | (29.33, 277.58, 101.93) | |
| 19:619716 | Q>R | A:979 | (29.31, 281.38, 96.42) | |
| 19:619705 | G>S | A:983 | (35.61, 278.44, 87.47) | |
| 19:619693 | rs531288692 | R>C | A:987 | (35.59, 267.58, 79.03) |
| 19:619647 | T>M | A:1002 | (27.14, 255.67, 92.65) | |
| 19:619644 | R>H | A:1003 | (24.44, 260.48, 93.51) | |
| 19:619632 | rs143468194 | R>H | A:1007 | (32.81, 262.31, 96.80) |
| 19:619633 | R>C | A:1007 | (32.81, 262.31, 96.80) | |
| 19:619630 | L>V | A:1008 | (35.60, 259.39, 95.37) | |
| 19:619618 | K>E | A:1012 | (41.11, 261.91, 91.84) | |
| 19:619615 | R>G | A:1013 | (40.25, 265.01, 88.82) | |
| 19:619609 | R>W | A:1015 | (42.22, 266.76, 96.67) | |
| 19:619591 | COSM3893793 COSM3893794 |
P>S | A:1021 | (39.59, 276.05, 97.75) |
| 19:619294 | E>D | A:1023 | (39.28, 274.56, 102.28) | |
| 19:619290 | V>M | A:1025 | (37.28, 268.94, 98.24) | |
| 19:619281 | rs371017219 | A>T | A:1028 | (32.27, 270.28, 96.05) |
| 19:619277 | COSM714023 | S>C | A:1029 | (32.39, 266.62, 95.52) |
| 19:619274 | H>R | A:1030 | (27.75, 266.14, 98.12) | |
| 19:619275 | rs150930702 | H>D | A:1030 | (27.75, 266.14, 98.12) |
| 19:619271 | COSM1613022 COSM3707496 |
Y>C | A:1031 | (26.73, 271.22, 94.16) |
| 19:619269 | L>F | A:1032 | (29.84, 268.87, 91.48) | |
| 19:619266 | rs1804752 COSM1395730 |
V>I | A:1033 | (27.76, 264.14, 92.20) |
| 19:619259 | Q>L | A:1035 | (24.13, 269.22, 90.28) | |
| 19:619249 | rs373285947 | K>N | A:1038 | (19.79, 267.66, 88.11) |
| 19:619246 | rs538506565 | S>R | A:1039 | (22.30, 266.92, 84.17) |
| 19:619248 | S>R | A:1039 | (22.30, 266.92, 84.17) | |
| 19:619239 | E>K | A:1042 | (17.50, 267.07, 82.89) | |
| 19:619229 | rs199504612 | S>L | A:1045 | (14.79, 261.11, 79.90) |
| 19:619230 | rs571095540 | S>A | A:1045 | (14.79, 261.11, 79.90) |
| 19:619227 | G>R | A:1046 | (14.86, 257.72, 78.05) | |
| 19:619223 | T>I | A:1047 | (18.06, 256.23, 79.08) | |
| 19:619220 | rs559722442 | R>Q | A:1048 | (15.77, 257.93, 84.71) |
| 19:619109 | rs534232866 | H>P | A:1052 | (12.97, 252.09, 86.57) |
| 19:619089 | R>C | A:1059 | (13.29, 244.60, 92.93) | |
| 19:619067 | S>F | A:1066 | (16.61, 233.98, 90.95) | |
| 19:619064 | V>G | A:1067 | (20.42, 234.64, 89.25) | |
| 19:619059 | rs149408062 | E>Q | A:1069 | (19.81, 233.64, 83.67) |
| 19:619046 | P>L | A:1073 | (22.52, 238.99, 70.23) | |
| 19:619038 | V>I | A:1076 | (26.80, 234.46, 74.68) | |
| 19:619032 | rs370808958 | V>I | A:1078 | (25.01, 236.14, 80.52) |
| 19:619022 | P>L | A:1081 | (27.78, 236.15, 89.78) | |
| 19:619017 | rs144090367 | R>C | A:1083 | (24.26, 233.77, 94.32) |
| 19:619011 | rs201389171 | D>N | A:1085 | (26.51, 233.40, 102.20) |
| 19:618705 | R>Q | A:1108 | (26.13, 231.71, 97.97) | |
| 19:618584 | K>R | A:1109 | (19.93, 233.10, 99.28) | |
| 19:618581 | P>L | A:1110 | (20.32, 235.74, 95.35) | |
| 19:618582 | P>S | A:1110 | (20.32, 235.74, 95.35) | |
| 19:618579 | N>H | A:1111 | (23.31, 240.22, 96.22) | |
| 19:618573 | COSM1395721 | R>C | A:1113 | (23.01, 246.60, 96.90) |
| 19:618563 | rs200820391 | K>R | A:1116 | (19.17, 246.26, 91.75) |
| 19:618558 | rs143273183 | G>S | A:1118 | (24.14, 245.23, 87.43) |
| 19:618551 | COSM2727169 COSM2727170 |
P>L | A:1120 | (21.60, 247.64, 83.85) |
| 19:618545 | N>S | A:1122 | (26.31, 243.73, 83.17) | |
| 19:618541 | F>L | A:1123 | (21.66, 244.18, 78.48) | |
| 19:618536 | H>R | A:1125 | (29.27, 246.31, 79.27) | |
| 19:618533 | S>L | A:1126 | (26.43, 242.40, 76.34) | |
| 19:618527 | D>V | A:1128 | (29.61, 246.77, 74.16) | |
| 19:618528 | D>H | A:1128 | (29.61, 246.77, 74.16) | |
| 19:618518 | H>L | A:1131 | (29.43, 246.81, 67.89) | |
| 19:618511 | M>I | A:1133 | (32.61, 240.18, 68.85) | |
| 19:618491 | Y>C | A:1140 | (39.74, 238.06, 59.39) | |
| 19:618492 | Y>H | A:1140 | (39.74, 238.06, 59.39) | |
| 19:617846 | K>N | A:1142 | (36.24, 243.62, 54.23) | |
| 19:617844 | G>D | A:1143 | (41.51, 242.16, 55.58) | |
| 19:617838 | rs201558272 | T>I | A:1145 | (44.30, 244.28, 61.39) |
| 19:617821 | COSM4082519 COSM4082520 |
D>N | A:1151 | (34.55, 251.64, 73.33) |
| 19:617808 | T>I | A:1155 | (43.12, 249.66, 61.91) | |
| 19:617806 | H>D | A:1156 | (46.71, 249.00, 59.65) | |
| 19:617793 | V>A | A:1160 | (40.02, 253.90, 59.01) | |
| 19:617649 | rs377209245 | R>W | A:1168 | (29.50, 253.51, 61.59) |
| 19:617645 | E>G | A:1169 | (26.21, 247.73, 58.57) | |
| 19:617633 | R>H | A:1173 | (23.76, 243.68, 60.92) | |
| 19:617598 | rs375762747 | R>G | A:1185 | (10.00, 237.66, 73.53) |
| 19:617593 | rs371354135 | F>L | A:1186 | (14.98, 234.72, 78.06) |
| 19:617594 | F>C | A:1186 | (14.98, 234.72, 78.06) | |
| 19:617585 | K>R | A:1189 | (10.64, 230.59, 78.45) | |
| 19:617586 | rs570198637 | K>Q | A:1189 | (10.64, 230.59, 78.45) |
| 19:617583 | R>W | A:1190 | (14.74, 230.83, 83.25) | |
| 19:617578 | rs1056748 | F>L | A:1191 | (13.17, 233.87, 85.29) |
| 19:617573 | rs142850300 | S>F | A:1193 | (7.41, 228.82, 84.34) |
| 19:617475 | Q>P | A:1196 | (2.77, 227.25, 93.44) | |
| 19:617471 | rs374817245 | K>N | A:1197 | (5.21, 231.54, 93.74) |
| 19:617472 | K>R | A:1197 | (5.21, 231.54, 93.74) | |
| 19:617466 | rs151287767 | L>S | A:1199 | (1.55, 235.42, 93.56) |
| 19:617464 | E>K | A:1200 | (6.41, 236.49, 93.21) | |
| 19:617461 | rs140959543 | A>T | A:1201 | (4.84, 235.76, 88.28) |
| 19:617454 | rs143594841 | Q>P | A:1203 | (4.72, 241.72, 90.40) |
| 19:617445 | E>A | A:1206 | (2.26, 243.19, 84.73) | |
| 19:617433 | A>G | A:1210 | (6.74, 247.02, 80.57) | |
| 19:617313 | D>E | A:1218 | (16.39, 256.40, 61.27) | |
| 19:617314 | D>G | A:1218 | (16.39, 256.40, 61.27) | |
| 19:617315 | rs563746524 | D>H | A:1218 | (16.39, 256.40, 61.27) |
| 19:617305 | Q>P | A:1221 | (20.85, 258.49, 59.77) | |
| 19:617296 | R>H | A:1224 | (24.02, 257.62, 56.59) | |
| 19:617297 | rs199982300 | R>C | A:1224 | (24.02, 257.62, 56.59) |
| 19:617293 | S>Y | A:1225 | (27.68, 259.36, 61.62) | |
| 19:617290 | rs376313590 | T>I | A:1226 | (31.44, 261.21, 60.93) |
| 19:617291 | T>P | A:1226 | (31.44, 261.21, 60.93) | |
| 19:617287 | rs148831245 | Y>C | A:1227 | (32.21, 263.14, 64.02) |
| 19:617282 | F>L | A:1229 | (33.00, 254.61, 66.87) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:629605 | COSM4784248 | R>W | A:253 | (28.90, 199.90, 110.96) |
| 19:625178 | COSM2727342 | A>V | A:300 | (32.99, 200.20, 80.67) |
| 19:625140 | COSM1395937 | A>T | A:313 | (32.41, 185.53, 74.64) |
| 19:623587 | COSM1395884 | Y>C | A:386 | (39.44, 235.29, 55.54) |
| 19:622984 | COSM1680448 | R>Q | A:431 | (75.80, 238.39, 92.86) |
| 19:622336 | COSM1564260 | E>A | A:555 | (39.25, 221.05, 58.49) |
| 19:622193 | COSM4593857 | V>F | A:603 | (66.73, 231.95, 111.11) |
| 19:621728 | COSM1002848 | S>L | A:657 | (36.45, 225.18, 73.55) |
| 19:621561 | COSM3757381 | V>L | A:713 | (59.37, 254.97, 72.42) |
| 19:621203 | COSM1395784 | P>L | A:832 | (50.39, 250.22, 52.31) |
| 19:621107 | COSM1395775 | A>V | A:864 | (48.58, 269.13, 61.16) |
| 19:619972 | COSM568191 | G>S | A:958 | (27.18, 269.67, 78.47) |
| 19:619741 | COSM1002846 | A>T | A:971 | (25.09, 281.29, 94.23) |
| 19:619271 | COSM3707496 | Y>C | A:1031 | (26.73, 271.22, 94.16) |
| 19:619266 | COSM1395730 | V>I | A:1033 | (27.76, 264.14, 92.20) |
| 19:619238 | COSM3693178 | E>V | A:1042 | (17.50, 267.07, 82.89) |
| 19:619016 | COSM1002841 | R>H | A:1083 | (24.26, 233.77, 94.32) |
| 19:618504 | COSM2727161 | A>T | A:1136 | (35.90, 241.87, 63.87) |
| 19:617460 | COSM3693176 | A>V | A:1201 | (4.84, 235.76, 88.28) |