General Structure Information
| PDB ID | 3dwb |
| HGNC Gene Label(s) | ECE1 |
| Structure Name | structure of human ece-1 complexed with phosphoramidon |
| Resolution | 2.38Å |
| Reference | AUTH H.SCHULZ,G.E.DALE,Y.KARIMI-NEJAD,C.OEFNERTITL STRUCTURE OF HUMAN ENDOTHELIN-CONVERTING ENZYME I COMPLEXEDTITL 2 WITH PHOSPHORAMIDONREF J.MOL.BIOL. V. 385 178 2009REFN ISSN 0022-2836PMID 18992253DOI 10.1016/J.JMB.2008.10.052 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 660 |
| Number Of SNVs | 145 |
| Number Of Permutations | 56777 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.012 |
| p-value | 0.009 |
COSMIC
| Number Of Residues | 660 |
| Number Of SNVs | 3 |
| Number Of Permutations | 283 |
| Optimal Distance Threshold | 36.0 |
| K Statistic | 0.333 |
| p-value | 0.815 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 145 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 36.0 |
| K Statistic | -0.532 |
| p-value | 0.155 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:21599381 | rs565366984 | E>K | A:102 | (75.90, 59.58, 54.62) |
| 1:21599377 | A>V | A:103 | (76.73, 56.80, 51.97) | |
| 1:21599346 | S>R | A:113 | (90.99, 55.01, 48.24) | |
| 1:21599347 | S>N | A:113 | (90.99, 55.01, 48.24) | |
| 1:21599333 | T>A | A:118 | (99.25, 58.10, 38.30) | |
| 1:21599300 | A>T | A:129 | (90.99, 50.96, 40.06) | |
| 1:21599272 | rs142092671 | P>L | A:138 | (98.84, 44.05, 52.85) |
| 1:21599270 | V>I | A:139 | (99.12, 39.62, 51.81) | |
| 1:21599255 | S>P | A:144 | (97.95, 33.65, 50.09) | |
| 1:21599236 | S>N | A:150 | (88.96, 37.19, 51.35) | |
| 1:21599221 | H>R | A:155 | (81.45, 40.37, 57.83) | |
| 1:21599213 | A>T | A:158 | (82.04, 37.03, 62.87) | |
| 1:21599200 | H>R | A:162 | (78.14, 36.84, 67.80) | |
| 1:21599198 | L>V | A:163 | (74.52, 33.29, 65.11) | |
| 1:21586876 | T>M | A:168 | (68.05, 31.50, 74.10) | |
| 1:21586868 | V>M | A:171 | (67.41, 27.10, 67.84) | |
| 1:21586862 | rs147475863 | E>K | A:173 | (66.67, 19.18, 65.76) |
| 1:21586850 | K>E | A:177 | (72.50, 19.11, 65.63) | |
| 1:21586847 | A>T | A:178 | (75.88, 23.49, 65.18) | |
| 1:21586838 | Y>H | A:181 | (80.75, 20.32, 64.97) | |
| 1:21586831 | rs150644074 | R>H | A:183 | (78.72, 24.82, 72.25) |
| 1:21586817 | E>K | A:188 | (91.18, 23.96, 72.79) | |
| 1:21586808 | rs142988424 | I>V | A:191 | (91.18, 18.77, 71.93) |
| 1:21586800 | E>D | A:193 | (92.20, 15.52, 77.95) | |
| 1:21586780 | M>T | A:200 | (96.91, 6.62, 67.70) | |
| 1:21586777 | E>V | A:201 | (91.91, 4.76, 69.52) | |
| 1:21585299 | K>E | A:217 | (96.32, -7.61, 58.21) | |
| 1:21585273 | Q>H | A:225 | (84.75, -1.25, 51.33) | |
| 1:21585265 | rs551629069 | T>I | A:228 | (85.12, 5.30, 50.99) |
| 1:21585220 | A>V | A:243 | (73.73, 13.78, 37.62) | |
| 1:21585215 | S>A | A:245 | (75.14, 14.26, 32.03) | |
| 1:21585202 | N>S | A:249 | (65.54, 13.49, 35.45) | |
| 1:21585196 | N>S | A:251 | (71.30, 10.41, 40.32) | |
| 1:21585194 | V>M | A:252 | (74.78, 8.07, 38.20) | |
| 1:21584055 | S>L | A:264 | (98.10, 19.58, 41.80) | |
| 1:21584028 | rs201107391 | E>G | A:273 | (112.09, 20.31, 38.03) |
| 1:21584023 | E>K | A:275 | (110.79, 25.51, 44.53) | |
| 1:21582622 | G>R | A:280 | (107.53, 19.61, 52.94) | |
| 1:21582604 | V>I | A:286 | (107.84, 12.53, 59.08) | |
| 1:21582599 | rs146875784 | Q>H | A:287 | (105.59, 15.61, 62.83) |
| 1:21582601 | Q>K | A:287 | (105.59, 15.61, 62.83) | |
| 1:21582583 | rs145311594 | G>S | A:293 | (103.93, 6.26, 66.81) |
| 1:21582580 | G>S | A:294 | (107.02, 6.19, 65.06) | |
| 1:21582567 | E>V | A:298 | (115.69, 5.04, 61.37) | |
| 1:21582558 | rs368124166 | R>Q | A:301 | (112.29, 10.64, 56.28) |
| 1:21582559 | rs139716196 | R>W | A:301 | (112.29, 10.64, 56.28) |
| 1:21582549 | rs372239142 | M>T | A:304 | (105.85, 8.47, 54.97) |
| 1:21582541 | I>V | A:307 | (103.31, 7.01, 50.87) | |
| 1:21582507 | T>I | A:318 | (96.55, 11.70, 36.89) | |
| 1:21582498 | rs140791949 | Q>R | A:321 | (91.89, 19.63, 34.64) |
| 1:21582492 | K>M | A:323 | (94.10, 15.91, 28.65) | |
| 1:21582489 | R>H | A:324 | (89.34, 15.83, 33.00) | |
| 1:21582487 | R>C | A:325 | (87.20, 22.38, 30.29) | |
| 1:21582472 | I>L | A:330 | (85.35, 12.88, 29.47) | |
| 1:21582457 | rs368339350 | T>A | A:335 | (78.27, -2.00, 32.80) |
| 1:21573855 | rs1076669 | T>I | A:341 | (86.70, -5.99, 32.56) |
| 1:21573844 | rs370657215 | A>T | A:345 | (91.45, -5.17, 41.30) |
| 1:21573829 | P>S | A:350 | (81.04, -6.62, 45.90) | |
| 1:21573823 | L>V | A:352 | (79.37, -0.84, 44.28) | |
| 1:21573816 | T>N | A:354 | (79.22, -2.31, 50.65) | |
| 1:21573817 | rs139326467 | T>A | A:354 | (79.22, -2.31, 50.65) |
| 1:21573814 | rs376773112 | I>V | A:355 | (79.57, 1.96, 49.18) |
| 1:21573810 | F>C | A:356 | (76.38, 2.89, 46.86) | |
| 1:21573802 | rs199950512 | V>M | A:359 | (70.99, -0.02, 46.96) |
| 1:21573792 | rs563806923 | N>S | A:362 | (72.83, -5.61, 38.98) |
| 1:21573793 | N>D | A:362 | (72.83, -5.61, 38.98) | |
| 1:21573784 | E>K | A:365 | (74.41, -0.22, 38.01) | |
| 1:21573778 | I>V | A:367 | (79.30, 3.07, 36.27) | |
| 1:21573758 | E>D | A:373 | (94.25, 3.93, 30.13) | |
| 1:21573757 | rs147329832 | Y>H | A:374 | (92.91, 6.72, 36.51) |
| 1:21573748 | Q>E | A:377 | (96.65, 3.11, 34.35) | |
| 1:21573739 | T>A | A:380 | (97.67, -2.34, 37.17) | |
| 1:21573736 | L>V | A:381 | (99.20, 0.65, 40.66) | |
| 1:21573721 | D>H | A:386 | (102.99, -4.12, 49.03) | |
| 1:21571585 | rs574233632 | N>S | A:392 | (100.70, 2.56, 54.91) |
| 1:21571577 | rs148978867 | I>V | A:395 | (96.09, 4.95, 56.89) |
| 1:21571570 | rs145301395 | N>S | A:397 | (94.28, 9.46, 52.39) |
| 1:21571561 | R>Q | A:400 | (96.19, 15.76, 54.71) | |
| 1:21571562 | rs372113894 COSM183012 |
R>W | A:400 | (96.19, 15.76, 54.71) |
| 1:21571552 | S>N | A:403 | (94.67, 15.66, 61.36) | |
| 1:21571536 | Q>H | A:408 | (98.16, 23.10, 68.33) | |
| 1:21571520 | D>N | A:414 | (98.32, 21.59, 59.38) | |
| 1:21571511 | F>L | A:417 | (102.54, 22.08, 53.87) | |
| 1:21571507 | rs544083697 | M>T | A:418 | (99.10, 25.80, 54.43) |
| 1:21571508 | M>V | A:418 | (99.10, 25.80, 54.43) | |
| 1:21571504 | E>A | A:419 | (103.68, 29.23, 56.15) | |
| 1:21564710 | COSM3671623 COSM3671624 COSM3671625 |
V>M | A:436 | (83.34, 29.04, 62.31) |
| 1:21564698 | E>K | A:440 | (80.80, 26.37, 56.64) | |
| 1:21564671 | rs146655154 | P>A | A:449 | (68.65, 29.54, 58.93) |
| 1:21564644 | E>K | A:458 | (63.04, 38.36, 52.22) | |
| 1:21564631 | rs141146885 | S>N | A:462 | (62.58, 40.87, 45.59) |
| 1:21564628 | I>T | A:463 | (65.58, 43.67, 44.94) | |
| 1:21563331 | COSM169040 | E>K | A:466 | (63.73, 42.85, 38.82) |
| 1:21563321 | COSM310795 | L>R | A:469 | (64.10, 39.34, 35.73) |
| 1:21563307 | A>S | A:474 | (69.86, 41.67, 28.27) | |
| 1:21563282 | rs144737209 | L>P | A:482 | (74.44, 37.22, 18.38) |
| 1:21563263 | E>D | A:488 | (67.32, 27.50, 13.68) | |
| 1:21563258 | rs140735120 | R>Q | A:490 | (69.47, 33.87, 16.67) |
| 1:21563250 | A>T | A:493 | (69.13, 29.86, 23.10) | |
| 1:21562392 | Y>C | A:506 | (66.87, 31.26, 51.14) | |
| 1:21562372 | P>S | A:513 | (62.00, 23.67, 60.38) | |
| 1:21562369 | K>E | A:514 | (58.77, 20.06, 59.98) | |
| 1:21562358 | rs530903496 | D>E | A:517 | (65.24, 19.05, 61.55) |
| 1:21562354 | rs187474823 | V>M | A:519 | (68.29, 16.57, 56.23) |
| 1:21560142 | P>A | A:527 | (79.07, 16.98, 74.20) | |
| 1:21560114 | rs373422349 | R>Q | A:536 | (78.73, 10.53, 64.57) |
| 1:21560115 | rs576793760 | R>G | A:536 | (78.73, 10.53, 64.57) |
| 1:21560105 | N>S | A:539 | (79.05, 7.92, 58.02) | |
| 1:21560103 | F>L | A:540 | (75.20, 12.59, 57.62) | |
| 1:21560093 | R>M | A:543 | (74.23, 7.04, 55.52) | |
| 1:21560072 | R>K | A:550 | (68.28, 4.00, 42.77) | |
| 1:21560060 | rs138566481 | N>S | A:554 | (66.07, 18.83, 43.43) |
| 1:21554475 | rs370486935 | V>A | A:577 | (73.03, 29.56, 42.56) |
| 1:21554467 | A>S | A:580 | (73.38, 35.35, 50.74) | |
| 1:21554464 | G>R | A:581 | (76.94, 35.94, 50.91) | |
| 1:21553718 | A>S | A:595 | (75.83, 51.48, 38.76) | |
| 1:21553691 | rs375453974 | V>I | A:604 | (77.78, 37.90, 39.36) |
| 1:21553688 | V>M | A:605 | (73.89, 37.46, 37.35) | |
| 1:21551930 | R>Q | A:618 | (77.96, 24.02, 23.61) | |
| 1:21551925 | Y>H | A:620 | (75.33, 20.22, 29.33) | |
| 1:21551904 | rs200894751 | R>W | A:627 | (70.45, 17.04, 23.25) |
| 1:21551867 | K>T | A:639 | (84.22, 25.82, 18.13) | |
| 1:21551864 | R>H | A:640 | (84.33, 30.28, 13.63) | |
| 1:21551865 | R>G | A:640 | (84.33, 30.28, 13.63) | |
| 1:21551855 | E>A | A:643 | (89.60, 30.25, 19.13) | |
| 1:21551856 | COSM1473397 | E>K | A:643 | (89.60, 30.25, 19.13) |
| 1:21551850 | COSM1204878 | M>V | A:645 | (88.27, 35.05, 24.11) |
| 1:21551846 | V>A | A:646 | (92.30, 31.87, 22.91) | |
| 1:21551835 | S>G | A:650 | (97.49, 34.34, 24.97) | |
| 1:21551830 | rs370114123 | N>K | A:651 | (98.57, 38.91, 24.66) |
| 1:21551823 | rs140832903 | V>M | A:654 | (102.07, 37.37, 35.07) |
| 1:21551810 | rs145351275 | P>L | A:658 | (102.41, 32.85, 29.91) |
| 1:21551798 | rs201622078 | R>Q | A:662 | (93.28, 27.07, 24.17) |
| 1:21551799 | rs201237429 | R>W | A:662 | (93.28, 27.07, 24.17) |
| 1:21551775 | A>T | A:670 | (81.35, 34.58, 31.42) | |
| 1:21551770 | D>E | A:671 | (83.85, 37.33, 32.69) | |
| 1:21551765 | G>A | A:673 | (78.66, 38.41, 28.94) | |
| 1:21551753 | rs185424269 | A>V | A:677 | (74.45, 42.09, 30.29) |
| 1:21551744 | R>Q | A:680 | (71.45, 46.69, 26.87) | |
| 1:21551745 | rs144860890 | R>W | A:680 | (71.45, 46.69, 26.87) |
| 1:21548317 | rs369348578 | K>E | A:687 | (66.16, 53.12, 28.31) |
| 1:21548300 | E>D | A:692 | (70.58, 57.63, 39.68) | |
| 1:21548295 | S>L | A:694 | (76.25, 61.98, 40.39) | |
| 1:21548258 | F>L | A:706 | (79.12, 49.45, 35.18) | |
| 1:21548251 | G>S | A:709 | (83.13, 48.88, 40.13) | |
| 1:21546608 | R>H | A:718 | (97.74, 35.76, 44.12) | |
| 1:21546609 | R>C | A:718 | (97.74, 35.76, 44.12) | |
| 1:21546589 | H>Q | A:724 | (104.07, 29.75, 38.26) | |
| 1:21546588 | COSM4028046 COSM4028047 COSM4028048 |
E>K | A:725 | (99.47, 27.60, 40.91) |
| 1:21546584 | G>A | A:726 | (97.14, 29.65, 38.75) | |
| 1:21546573 | D>N | A:730 | (92.36, 29.16, 38.33) | |
| 1:21546554 | rs372891026 | R>H | A:736 | (95.76, 42.76, 35.69) |
| 1:21546548 | R>Q | A:738 | (88.18, 37.87, 35.79) | |
| 1:21546514 | F>L | A:749 | (85.87, 51.08, 28.94) | |
| 1:21546500 | rs374518508 COSM70562 |
R>H | A:754 | (87.24, 59.64, 27.08) |
| 1:21546501 | rs3026906 | R>C | A:754 | (87.24, 59.64, 27.08) |
| 1:21546482 | P>R | A:760 | (96.06, 49.51, 25.69) | |
| 1:21546473 | P>L | A:763 | (91.35, 46.35, 21.53) | |
| 1:21546474 | rs186453862 | P>A | A:763 | (91.35, 46.35, 21.53) |
| 1:21546459 | rs201631426 COSM3864434 COSM3864435 COSM3864436 |
E>K | A:768 | (81.05, 39.38, 20.70) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:21573741 | COSM4382805 | S>F | A:379 | (94.15, -2.28, 38.57) |
| 1:21571534 | COSM1931012 | R>H | A:409 | (101.05, 17.47, 68.89) |
| 1:21563331 | COSM4231076 | E>K | A:466 | (63.73, 42.85, 38.82) |
| 1:21551913 | COSM3483324 | G>R | A:624 | (70.31, 19.08, 31.16) |