General Structure Information
| PDB ID | 2o36 |
| HGNC Gene Label(s) | THOP1 |
| Structure Name | crystal structure of engineered thimet oligopeptidase with neurolysin specificity in neurotensin cleavage site |
| Resolution | 1.95Å |
| Reference | AUTH E.J.LIM,S.SAMPATH,J.COLL-RODRIGUEZ,J.SCHMIDT,K.RAY,AUTH 2 D.W.RODGERSTITL SWAPPING THE SUBSTRATE SPECIFICITIES OF THETITL 2 NEUROPEPTIDASES NEUROLYSIN AND THIMETTITL 3 OLIGOPEPTIDASE.REF J.BIOL.CHEM. V. 282 9722 2007REFN ISSN 0021-9258PMID 17251185DOI 10.1074/JBC.M609897200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 654 |
| Number Of SNVs | 191 |
| Number Of Permutations | 41437 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.092 |
| p-value | 0.0 |
COSMIC
| Number Of Residues | 654 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1682 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.19 |
| p-value | 0.483 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 191 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | -0.039 |
| p-value | 0.692 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:2790476 | rs150927880 | R>Q | A:25 | (16.67, 33.15, 49.26) |
| 19:2790484 | L>M | A:28 | (20.40, 29.04, 47.68) | |
| 19:2790491 | A>V | A:30 | (24.08, 23.69, 44.83) | |
| 19:2790494 | Q>L | A:31 | (20.33, 20.54, 45.35) | |
| 19:2790496 | rs527982583 | Q>E | A:32 | (18.57, 25.14, 46.39) |
| 19:2790499 | I>V | A:33 | (21.62, 26.82, 42.22) | |
| 19:2790501 | rs201769518 | I>M | A:33 | (21.62, 26.82, 42.22) |
| 19:2790502 | rs140738489 | E>Q | A:34 | (20.70, 21.83, 39.77) |
| 19:2790508 | rs76198851 | R>C | A:36 | (15.69, 28.15, 42.47) |
| 19:2790509 | R>H | A:36 | (15.69, 28.15, 42.47) | |
| 19:2790511 | T>A | A:37 | (18.16, 26.95, 36.73) | |
| 19:2790526 | rs142015327 | E>K | A:42 | (9.72, 25.00, 32.96) |
| 19:2790539 | rs531696133 | R>H | A:46 | (4.20, 28.64, 30.82) |
| 19:2790542 | V>A | A:47 | (5.89, 33.20, 28.47) | |
| 19:2790565 | E>K | A:55 | (-4.11, 33.27, 16.35) | |
| 19:2790569 | F>S | A:56 | (-3.02, 39.31, 13.56) | |
| 19:2790571 | E>K | A:57 | (-7.73, 37.95, 16.00) | |
| 19:2790572 | E>G | A:57 | (-7.73, 37.95, 16.00) | |
| 19:2790577 | COSM401788 COSM994290 |
V>M | A:59 | (-1.64, 40.30, 18.90) |
| 19:2790586 | rs541345001 | E>K | A:62 | (-2.17, 44.09, 27.01) |
| 19:2790587 | rs370840170 | E>G | A:62 | (-2.17, 44.09, 27.01) |
| 19:2790590 | S>N | A:63 | (-0.55, 39.68, 24.96) | |
| 19:2790593 | T>M | A:64 | (2.76, 40.65, 23.20) | |
| 19:2790602 | rs374219260 | A>V | A:67 | (4.28, 39.63, 28.53) |
| 19:2790610 | rs149372415 | D>N | A:70 | (5.88, 41.48, 32.95) |
| 19:2790614 | V>A | A:71 | (9.03, 37.59, 31.82) | |
| 19:2790626 | rs148085682 | Y>C | A:75 | (15.18, 35.41, 33.55) |
| 19:2794774 | rs201707901 | I>T | A:81 | (19.72, 35.16, 42.76) |
| 19:2794798 | rs200973060 COSM1494328 |
S>F | A:89 | (30.59, 32.05, 47.53) |
| 19:2794809 | D>N | A:93 | (30.27, 23.16, 45.91) | |
| 19:2794815 | R>G | A:95 | (32.49, 29.28, 44.03) | |
| 19:2794816 | R>Q | A:95 | (32.49, 29.28, 44.03) | |
| 19:2794831 | E>G | A:100 | (27.61, 25.39, 35.02) | |
| 19:2794836 | D>N | A:102 | (25.75, 31.89, 33.84) | |
| 19:2794839 | K>E | A:103 | (27.64, 28.10, 31.43) | |
| 19:2794848 | rs141520907 | S>P | A:106 | (23.41, 32.46, 28.82) |
| 19:2794857 | COSM76725 | D>N | A:109 | (19.19, 34.42, 27.30) |
| 19:2794860 | rs369652333 | V>M | A:110 | (20.72, 33.21, 22.78) |
| 19:2794890 | Q>K | A:120 | (5.58, 37.38, 13.25) | |
| 19:2794899 | V>M | A:123 | (6.27, 42.37, 13.64) | |
| 19:2794900 | V>A | A:123 | (6.27, 42.37, 13.64) | |
| 19:2794905 | rs372884318 | L>F | A:125 | (2.23, 44.69, 18.31) |
| 19:2796080 | E>V | A:127 | (0.70, 45.87, 11.66) | |
| 19:2796081 | E>D | A:127 | (0.70, 45.87, 11.66) | |
| 19:2796089 | Q>R | A:130 | (-2.69, 54.06, 16.93) | |
| 19:2796092 | K>R | A:131 | (1.95, 56.86, 14.64) | |
| 19:2796093 | K>N | A:131 | (1.95, 56.86, 14.64) | |
| 19:2796095 | D>G | A:132 | (2.16, 58.29, 18.31) | |
| 19:2796097 | S>P | A:133 | (-0.50, 54.99, 21.21) | |
| 19:2796115 | A>S | A:139 | (7.87, 52.66, 22.36) | |
| 19:2796116 | A>V | A:139 | (7.87, 52.66, 22.36) | |
| 19:2796118 | R>W | A:140 | (13.49, 53.37, 23.89) | |
| 19:2796130 | COSM3422623 | R>W | A:144 | (15.99, 48.35, 22.11) |
| 19:2796145 | G>C | A:149 | (16.11, 41.07, 15.55) | |
| 19:2796149 | R>Q | A:150 | (15.88, 44.28, 11.52) | |
| 19:2796166 | L>F | A:156 | (16.84, 38.53, 6.76) | |
| 19:2799696 | rs561280269 | R>C | A:166 | (28.48, 29.68, 7.88) |
| 19:2799699 | I>F | A:167 | (29.70, 33.40, 9.81) | |
| 19:2799701 | rs149899689 | I>M | A:167 | (29.70, 33.40, 9.81) |
| 19:2799709 | rs375022690 | K>R | A:170 | (33.06, 29.76, 11.29) |
| 19:2799726 | I>L | A:176 | (37.42, 30.19, 22.05) | |
| 19:2799729 | rs148610078 | D>N | A:177 | (41.13, 29.28, 19.70) |
| 19:2799750 | E>K | A:184 | (46.73, 27.65, 27.08) | |
| 19:2799753 | rs368983934 | D>Y | A:185 | (51.75, 31.06, 26.66) |
| 19:2799757 | rs143179443 | T>M | A:186 | (54.03, 28.56, 29.03) |
| 19:2799775 | T>M | A:192 | (71.00, 36.71, 35.67) | |
| 19:2799778 | L>P | A:193 | (70.31, 37.98, 40.15) | |
| 19:2799781 | rs377483671 | Q>R | A:194 | (73.26, 39.76, 37.35) |
| 19:2805016 | G>R | A:198 | (65.64, 46.61, 39.97) | |
| 19:2805034 | rs146186757 | L>V | A:204 | (64.38, 38.46, 42.41) |
| 19:2805039 | N>K | A:205 | (63.66, 35.22, 45.82) | |
| 19:2805061 | COSM2749644 | G>S | A:213 | (70.78, 29.94, 38.00) |
| 19:2805085 | Y>H | A:221 | (49.70, 40.69, 32.32) | |
| 19:2805097 | F>I | A:225 | (53.03, 45.24, 33.34) | |
| 19:2805101 | rs202049788 | P>L | A:226 | (57.12, 44.47, 36.90) |
| 19:2805118 | H>Y | A:232 | (68.67, 48.64, 35.93) | |
| 19:2805158 | N>S | A:245 | (54.56, 42.20, 21.99) | |
| 19:2805166 | rs574104983 | C>S | A:248 | (50.65, 33.59, 19.49) |
| 19:2805169 | K>E | A:249 | (53.79, 36.14, 15.26) | |
| 19:2805172 | rs183753940 | E>K | A:250 | (52.87, 32.06, 13.13) |
| 19:2806939 | L>M | A:259 | (38.10, 37.29, 13.10) | |
| 19:2806945 | T>P | A:261 | (36.92, 38.31, 6.44) | |
| 19:2806946 | T>M | A:261 | (36.92, 38.31, 6.44) | |
| 19:2806951 | rs368597212 | R>W | A:263 | (34.30, 40.18, 12.89) |
| 19:2806962 | K>N | A:266 | (27.81, 38.89, 10.32) | |
| 19:2806967 | R>H | A:268 | (28.89, 42.26, 3.70) | |
| 19:2806982 | H>R | A:273 | (28.58, 49.27, 3.62) | |
| 19:2806985 | rs569106004 | T>M | A:274 | (31.40, 48.11, 8.09) |
| 19:2806990 | A>T | A:276 | (31.81, 48.98, 12.70) | |
| 19:2807008 | M>V | A:282 | (23.13, 50.05, 19.45) | |
| 19:2807014 | M>V | A:284 | (26.92, 58.13, 21.90) | |
| 19:2807016 | M>I | A:284 | (26.92, 58.13, 21.90) | |
| 19:2807027 | S>N | A:288 | (32.77, 54.64, 11.55) | |
| 19:2807035 | V>M | A:291 | (34.94, 56.91, 15.81) | |
| 19:2807041 | T>A | A:293 | (36.43, 62.36, 13.48) | |
| 19:2807449 | rs142317993 | A>V | A:299 | (45.56, 63.07, 18.07) |
| 19:2807452 | Q>R | A:300 | (45.40, 67.41, 15.74) | |
| 19:2807463 | P>T | A:304 | (51.59, 68.85, 21.38) | |
| 19:2807481 | rs573052024 COSM3787628 |
R>C | A:310 | (57.91, 62.02, 22.51) |
| 19:2807487 | V>M | A:312 | (61.30, 64.39, 29.18) | |
| 19:2807496 | rs373793508 | E>K | A:315 | (67.56, 64.05, 28.77) |
| 19:2807505 | R>C | A:318 | (71.53, 61.91, 28.25) | |
| 19:2807515 | C>Y | A:321 | (72.84, 55.72, 29.62) | |
| 19:2807517 | E>K | A:322 | (75.97, 59.78, 31.07) | |
| 19:2807520 | R>C | A:323 | (73.31, 57.93, 35.56) | |
| 19:2807521 | R>H | A:323 | (73.31, 57.93, 35.56) | |
| 19:2807523 | R>W | A:324 | (73.02, 52.76, 34.96) | |
| 19:2807524 | R>Q | A:324 | (73.02, 52.76, 34.96) | |
| 19:2807532 | rs146411808 | P>A | A:327 | (74.76, 52.16, 25.22) |
| 19:2807538 | rs139314455 | D>N | A:329 | (69.81, 54.77, 20.66) |
| 19:2807541 | rs143302192 | G>S | A:330 | (68.56, 58.30, 20.60) |
| 19:2807544 | R>C | A:331 | (64.95, 56.04, 18.40) | |
| 19:2807545 | R>H | A:331 | (64.95, 56.04, 18.40) | |
| 19:2807547 | I>L | A:332 | (62.04, 56.49, 22.79) | |
| 19:2807550 | COSM1720682 | R>C | A:333 | (63.86, 51.97, 20.66) |
| 19:2807563 | M>T | A:337 | (57.66, 53.93, 26.97) | |
| 19:2807574 | M>V | A:341 | (56.15, 56.62, 31.64) | |
| 19:2807593 | rs147544038 | T>M | A:347 | (61.71, 62.07, 39.38) |
| 19:2807595 | R>C | A:348 | (59.83, 65.39, 36.15) | |
| 19:2807596 | rs185080096 | R>H | A:348 | (59.83, 65.39, 36.15) |
| 19:2807601 | rs148139735 | C>R | A:350 | (57.19, 62.66, 43.31) |
| 19:2807610 | Q>E | A:353 | (51.31, 56.64, 47.27) | |
| 19:2807615 | N>K | A:354 | (54.35, 54.81, 51.18) | |
| 19:2807622 | K>E | A:357 | (49.39, 54.39, 52.55) | |
| 19:2807637 | V>M | A:362 | (39.15, 51.64, 54.72) | |
| 19:2807650 | COSM4076498 | T>M | A:366 | (33.80, 54.17, 53.55) |
| 19:2807655 | rs527473166 | G>R | A:368 | (33.29, 59.89, 53.05) |
| 19:2807691 | rs141969247 | A>T | A:380 | (20.28, 58.34, 53.29) |
| 19:2807694 | F>V | A:381 | (23.46, 55.98, 52.32) | |
| 19:2807717 | rs537514244 | S>R | A:388 | (21.21, 38.25, 55.02) |
| 19:2807727 | E>K | A:392 | (31.43, 37.47, 58.56) | |
| 19:2807733 | V>M | A:394 | (28.72, 41.68, 53.84) | |
| 19:2807736 | COSM4076499 | R>W | A:395 | (28.39, 44.96, 56.61) |
| 19:2807737 | rs373946615 COSM4076500 |
R>Q | A:395 | (28.39, 44.96, 56.61) |
| 19:2807749 | rs201540389 | A>V | A:399 | (18.63, 54.18, 50.23) |
| 19:2807757 | COSM710582 | A>T | A:402 | (16.76, 62.96, 52.94) |
| 19:2807758 | A>V | A:402 | (16.76, 62.96, 52.94) | |
| 19:2807764 | S>L | A:404 | (11.04, 61.37, 52.80) | |
| 19:2807772 | V>M | A:407 | (13.07, 53.35, 49.98) | |
| 19:2807778 | G>R | A:409 | (17.34, 51.42, 47.71) | |
| 19:2807791 | L>Q | A:413 | (29.43, 47.29, 50.74) | |
| 19:2807806 | R>Q | A:418 | (36.17, 36.44, 50.18) | |
| 19:2808284 | G>S | A:433 | (14.54, 48.85, 38.55) | |
| 19:2808291 | L>P | A:435 | (7.26, 48.90, 37.00) | |
| 19:2808293 | rs368808227 | R>W | A:436 | (6.76, 44.83, 40.99) |
| 19:2808294 | R>Q | A:436 | (6.76, 44.83, 40.99) | |
| 19:2808299 | rs377760986 | D>N | A:438 | (1.13, 45.51, 40.05) |
| 19:2808308 | R>C | A:441 | (9.07, 51.43, 40.83) | |
| 19:2808309 | rs138112717 | R>H | A:441 | (9.07, 51.43, 40.83) |
| 19:2808312 | Q>R | A:442 | (11.29, 46.06, 41.62) | |
| 19:2808314 | rs556378977 | I>L | A:443 | (13.68, 48.40, 45.10) |
| 19:2808323 | A>T | A:446 | (23.20, 46.29, 44.49) | |
| 19:2808324 | A>V | A:446 | (23.20, 46.29, 44.49) | |
| 19:2808329 | M>V | A:448 | (30.67, 47.44, 45.81) | |
| 19:2808330 | rs374232130 | M>T | A:448 | (30.67, 47.44, 45.81) |
| 19:2808350 | P>S | A:455 | (41.21, 46.02, 58.73) | |
| 19:2808359 | D>N | A:458 | (48.42, 46.21, 65.45) | |
| 19:2808360 | D>G | A:458 | (48.42, 46.21, 65.45) | |
| 19:2808362 | A>T | A:459 | (47.28, 46.27, 60.58) | |
| 19:2808369 | S>L | A:461 | (43.75, 49.31, 55.65) | |
| 19:2808375 | L>P | A:463 | (43.44, 52.68, 50.68) | |
| 19:2808379 | Q>H | A:464 | (47.33, 53.02, 47.57) | |
| 19:2808404 | rs145132932 | H>Y | A:473 | (34.27, 54.13, 38.86) |
| 19:2808419 | V>M | A:478 | (25.72, 51.54, 43.03) | |
| 19:2810327 | rs151055831 | T>I | A:494 | (23.89, 50.31, 34.00) |
| 19:2810338 | R>W | A:498 | (28.68, 50.49, 25.50) | |
| 19:2810339 | R>Q | A:498 | (28.68, 50.49, 25.50) | |
| 19:2810354 | rs142450281 | A>V | A:503 | (30.82, 58.45, 32.01) |
| 19:2810357 | P>L | A:504 | (28.92, 58.39, 34.68) | |
| 19:2810359 | S>P | A:505 | (31.94, 56.76, 36.98) | |
| 19:2810396 | P>L | A:517 | (36.56, 66.03, 48.19) | |
| 19:2810404 | R>W | A:520 | (33.98, 65.09, 52.72) | |
| 19:2810405 | rs368446739 | R>Q | A:520 | (33.98, 65.09, 52.72) |
| 19:2810413 | R>W | A:523 | (41.76, 59.76, 60.02) | |
| 19:2810414 | R>Q | A:523 | (41.76, 59.76, 60.02) | |
| 19:2810422 | rs371786321 | R>C | A:526 | (49.36, 57.59, 64.89) |
| 19:2810423 | rs557008106 | R>H | A:526 | (49.36, 57.59, 64.89) |
| 19:2810434 | A>T | A:530 | (45.27, 66.41, 57.86) | |
| 19:2810437 | rs200770708 | V>M | A:531 | (46.32, 65.75, 54.10) |
| 19:2810443 | rs200506785 COSM3692590 |
R>W | A:533 | (46.10, 71.98, 51.91) |
| 19:2810444 | R>Q | A:533 | (46.10, 71.98, 51.91) | |
| 19:2810455 | E>K | A:537 | (49.40, 71.17, 46.05) | |
| 19:2810465 | I>T | A:540 | (46.06, 67.22, 42.37) | |
| 19:2810661 | rs563787762 | V>I | A:556 | (47.22, 53.36, 18.52) |
| 19:2810670 | K>E | A:559 | (43.24, 54.73, 15.12) | |
| 19:2810671 | K>R | A:559 | (43.24, 54.73, 15.12) | |
| 19:2810698 | rs375742224 | T>M | A:568 | (39.59, 44.57, 3.41) |
| 19:2810712 | rs141596601 | A>T | A:573 | (51.20, 44.71, 12.06) |
| 19:2810715 | E>K | A:574 | (51.87, 46.67, 8.12) | |
| 19:2810720 | E>D | A:575 | (47.82, 49.80, 10.40) | |
| 19:2810725 | rs571489169 COSM4076501 |
A>V | A:577 | (53.51, 50.27, 13.11) |
| 19:2810727 | R>W | A:578 | (50.53, 53.83, 10.15) | |
| 19:2810728 | rs368835211 | R>Q | A:578 | (50.53, 53.83, 10.15) |
| 19:2810748 | G>R | A:585 | (56.71, 58.01, 18.64) | |
| 19:2810751 | rs372119051 | V>F | A:586 | (57.30, 54.87, 20.11) |
| 19:2810755 | rs200291608 | P>L | A:587 | (58.99, 52.51, 17.58) |
| 19:2810761 | rs368086026 COSM994295 |
T>M | A:589 | (59.63, 45.89, 17.93) |
| 19:2811602 | rs369665263 | N>S | A:593 | (51.82, 40.97, 16.01) |
| 19:2811606 | M>I | A:594 | (49.89, 44.08, 19.86) | |
| 19:2811610 | A>T | A:596 | (48.09, 38.91, 18.16) | |
| 19:2811619 | rs149603131 | G>S | A:599 | (42.00, 40.52, 23.18) |
| 19:2811622 | H>Y | A:600 | (40.24, 44.01, 24.24) | |
| 19:2811643 | rs199651055 | A>T | A:607 | (34.72, 47.96, 17.30) |
| 19:2811644 | rs541243719 | A>V | A:607 | (34.72, 47.96, 17.30) |
| 19:2811655 | G>R | A:611 | (35.05, 53.88, 24.50) | |
| 19:2811670 | rs537892708 | E>K | A:616 | (38.04, 59.74, 29.87) |
| 19:2811679 | S>A | A:619 | (33.50, 62.85, 31.62) | |
| 19:2811683 | M>T | A:620 | (36.08, 66.28, 31.95) | |
| 19:2811698 | rs146226928 | T>M | A:625 | (30.11, 72.25, 32.24) |
| 19:2811700 | rs187807565 | R>C | A:626 | (26.29, 71.53, 35.40) |
| 19:2811701 | rs372729243 | R>L | A:626 | (26.29, 71.53, 35.40) |
| 19:2811718 | rs377088074 | V>I | A:632 | (32.24, 70.10, 43.40) |
| 19:2813120 | M>K | A:639 | (19.57, 66.57, 42.64) | |
| 19:2813135 | C>Y | A:644 | (19.43, 64.31, 33.71) | |
| 19:2813149 | G>S | A:649 | (18.63, 55.11, 32.18) | |
| 19:2813150 | G>D | A:649 | (18.63, 55.11, 32.18) | |
| 19:2813158 | rs371442536 | E>K | A:652 | (16.46, 58.91, 28.16) |
| 19:2813160 | rs374499299 | E>D | A:652 | (16.46, 58.91, 28.16) |
| 19:2813170 | A>T | A:656 | (19.66, 63.31, 25.34) | |
| 19:2813175 | M>I | A:657 | (20.83, 61.78, 28.99) | |
| 19:2813182 | rs150576351 | R>C | A:660 | (18.02, 66.41, 28.39) |
| 19:2813195 | rs368323221 | R>H | A:664 | (26.93, 71.82, 25.40) |
| 19:2813206 | Q>E | A:668 | (37.18, 66.79, 22.43) | |
| 19:2813208 | Q>H | A:668 | (37.18, 66.79, 22.43) | |
| 19:2813224 | rs372261085 | S>R | A:674 | (42.51, 68.86, 31.67) |
| 19:2813227 | K>E | A:675 | (45.16, 67.01, 29.82) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:2790475 | COSM1392282 | R>W | A:25 | (16.67, 33.15, 49.26) |
| 19:2805023 | COSM1680500 | P>L | A:200 | (62.04, 43.95, 43.76) |
| 19:2805061 | COSM2749644 | G>S | A:213 | (70.78, 29.94, 38.00) |
| 19:2807550 | COSM1720682 | R>C | A:333 | (63.86, 51.97, 20.66) |
| 19:2808402 | COSM1750780 | F>S | A:472 | (34.08, 58.12, 44.23) |
| 19:2810725 | COSM4076501 | A>V | A:577 | (53.51, 50.27, 13.11) |
| 19:2811727 | COSM4140473 | S>G | A:635 | (22.84, 70.08, 45.87) |