General Structure Information
| PDB ID | 4oav |
| HGNC Gene Label(s) | RNASEL |
| Structure Name | complete human rnase l in complex with 2-5a (5-ppp heptamer), amppcp and rna substrate. |
| Resolution | 2.1Å |
| Reference | AUTH Y.HAN,J.DONOVAN,S.RATH,G.WHITNEY,A.CHITRAKAR,A.KORENNYKHTITL STRUCTURE OF HUMAN RNASE L REVEALS THE BASIS FOR REGULATEDTITL 2 RNA DECAY IN THE IFN RESPONSE.REF SCIENCE V. 343 1244 2014REFN ISSN 0036-8075PMID 24578532DOI 10.1126/SCIENCE.1249845 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 673 |
| Number Of SNVs | 189 |
| Number Of Permutations | 53050 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.016 |
| p-value | 0.486 |
COSMIC
| Number Of Residues | 673 |
| Number Of SNVs | 8 |
| Number Of Permutations | 5256 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.036 |
| p-value | 0.182 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 189 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.045 |
| p-value | 0.306 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:182555847 | A>G | B:32 | (38.80, 28.58, 105.52) | |
| 1:182555842 | Q>E | B:34 | (34.23, 24.86, 104.52) | |
| 1:182555838 | N>S | B:35 | (38.16, 23.95, 107.68) | |
| 1:182555839 | N>D | B:35 | (38.16, 23.95, 107.68) | |
| 1:182555836 | E>K | B:36 | (35.82, 26.22, 111.84) | |
| 1:182555825 | D>E | B:39 | (43.90, 32.76, 112.04) | |
| 1:182555823 | L>P | B:40 | (43.41, 31.37, 106.72) | |
| 1:182555803 | G>S | B:47 | (44.66, 40.31, 101.25) | |
| 1:182555797 | A>T | B:49 | (39.65, 38.40, 99.24) | |
| 1:182555793 | rs145581875 | N>S | B:50 | (35.65, 38.17, 96.83) |
| 1:182555767 | rs151296858 | G>S | B:59 | (25.85, 30.17, 95.45) |
| 1:182555758 | rs114166108 | P>S | B:62 | (31.85, 32.97, 102.23) |
| 1:182555749 | N>D | B:65 | (29.91, 28.27, 104.29) | |
| 1:182555746 | A>T | B:66 | (29.71, 30.67, 108.36) | |
| 1:182555721 | I>T | B:74 | (33.86, 33.38, 110.93) | |
| 1:182555722 | I>V | B:74 | (33.86, 33.38, 110.93) | |
| 1:182555709 | rs199717324 COSM99005 |
L>P | B:78 | (32.90, 37.65, 106.57) |
| 1:182555704 | rs146324223 | R>G | B:80 | (33.23, 44.17, 111.33) |
| 1:182555688 | P>L | B:85 | (24.02, 40.86, 104.70) | |
| 1:182555689 | P>S | B:85 | (24.02, 40.86, 104.70) | |
| 1:182555686 | V>I | B:86 | (20.87, 39.91, 102.33) | |
| 1:182555670 | rs367543931 | N>S | B:91 | (17.87, 28.05, 97.26) |
| 1:182555661 | rs141809307 | T>M | B:94 | (18.95, 34.02, 103.42) |
| 1:182555655 | F>S | B:96 | (17.28, 34.94, 108.98) | |
| 1:182555652 | I>N | B:97 | (16.88, 31.10, 106.18) | |
| 1:182555647 | COSM900686 | A>S | B:99 | (20.51, 30.47, 111.10) |
| 1:182555640 | rs115634589 | I>T | B:101 | (19.10, 25.36, 109.27) |
| 1:182555635 | G>R | B:103 | (20.19, 27.28, 115.64) | |
| 1:182555629 | COSM212984 | V>M | B:105 | (19.47, 32.93, 118.52) |
| 1:182555613 | L>P | B:110 | (23.31, 39.67, 113.39) | |
| 1:182555598 | G>E | B:115 | (17.54, 43.33, 107.04) | |
| 1:182555592 | D>V | B:117 | (11.75, 39.86, 107.04) | |
| 1:182555586 | N>T | B:119 | (8.08, 36.19, 107.57) | |
| 1:182555577 | rs201382126 | D>G | B:122 | (13.25, 29.67, 99.86) |
| 1:182555559 | COSM3479916 | A>D | B:128 | (13.15, 30.37, 109.32) |
| 1:182555531 | rs542521353 | K>N | B:137 | (16.98, 23.68, 115.93) |
| 1:182555530 | V>F | B:138 | (13.60, 24.70, 120.34) | |
| 1:182555524 | A>S | B:140 | (15.04, 29.24, 117.09) | |
| 1:182555484 | L>W | B:153 | (3.07, 30.68, 106.43) | |
| 1:182555482 | rs144213776 | R>G | B:154 | (-0.09, 26.79, 102.66) |
| 1:182555473 | T>S | B:157 | (6.42, 26.94, 95.03) | |
| 1:182555457 | E>V | B:162 | (2.06, 25.06, 92.54) | |
| 1:182555454 | R>P | B:163 | (2.17, 23.16, 86.79) | |
| 1:182555443 | G>R | B:167 | (3.39, 22.69, 98.24) | |
| 1:182555419 | rs374109517 COSM2097088 |
A>S | B:175 | (7.72, 18.46, 112.75) |
| 1:182555416 | A>T | B:176 | (5.85, 15.61, 111.93) | |
| 1:182555409 | K>R | B:178 | (11.79, 15.38, 109.81) | |
| 1:182555401 | COSM208821 | V>I | B:181 | (7.97, 15.64, 119.92) |
| 1:182555398 | E>Q | B:182 | (9.31, 18.90, 122.58) | |
| 1:182555395 | V>F | B:183 | (8.75, 21.41, 117.84) | |
| 1:182555391 | rs182539049 | L>S | B:184 | (4.47, 19.06, 117.38) |
| 1:182555369 | M>I | B:191 | (3.56, 28.88, 118.67) | |
| 1:182555371 | M>L | B:191 | (3.56, 28.88, 118.67) | |
| 1:182555367 | G>A | B:192 | (-1.10, 28.28, 116.98) | |
| 1:182555361 | D>V | B:194 | (-3.92, 24.68, 111.78) | |
| 1:182555359 | rs146781980 | V>I | B:195 | (-3.97, 20.54, 113.43) |
| 1:182555353 | A>P | B:197 | (-3.58, 22.05, 107.55) | |
| 1:182555346 | D>G | B:199 | (-0.28, 19.74, 101.41) | |
| 1:182555337 | G>D | B:202 | (-3.72, 17.07, 101.07) | |
| 1:182555338 | G>C | B:202 | (-3.72, 17.07, 101.07) | |
| 1:182555319 | H>R | B:208 | (3.36, 15.08, 106.31) | |
| 1:182555316 | rs374914079 | A>G | B:209 | (3.78, 11.59, 110.50) |
| 1:182555298 | rs369225651 | D>G | B:215 | (9.25, 5.12, 112.66) |
| 1:182555299 | rs373482948 | D>N | B:215 | (9.25, 5.12, 112.66) |
| 1:182555290 | COSM900684 | V>L | B:218 | (5.22, 7.91, 115.05) |
| 1:182555281 | rs149498082 | I>V | B:221 | (3.88, 12.85, 116.80) |
| 1:182555277 | T>M | B:222 | (-0.03, 10.23, 116.29) | |
| 1:182555271 | rs138685180 | L>P | B:224 | (0.42, 15.15, 120.43) |
| 1:182555229 | R>K | B:238 | (0.22, 5.24, 96.08) | |
| 1:182555227 | rs376574386 | G>R | B:239 | (-5.21, 6.93, 99.13) |
| 1:182555217 | P>R | B:242 | (-4.25, 7.63, 108.33) | |
| 1:182555218 | P>T | B:242 | (-4.25, 7.63, 108.33) | |
| 1:182555215 | L>M | B:243 | (-5.92, 3.04, 109.41) | |
| 1:182555212 | I>V | B:244 | (-4.08, 2.31, 105.21) | |
| 1:182555179 | V>M | B:255 | (-3.87, 0.63, 114.61) | |
| 1:182555169 | rs143565946 | L>H | B:258 | (-5.90, 5.67, 114.60) |
| 1:182555148 | E>A | B:265 | (-14.62, 6.05, 107.69) | |
| 1:182555146 | I>V | B:266 | (-12.82, 1.01, 109.21) | |
| 1:182555115 | rs145415894 | A>V | B:276 | (-6.93, -1.95, 106.16) |
| 1:182555107 | L>F | B:279 | (-3.47, -4.14, 103.31) | |
| 1:182555089 | rs140715742 | L>M | B:285 | (-0.53, -7.99, 110.11) |
| 1:182555077 | rs35553278 | A>P | B:289 | (-6.84, -7.97, 111.65) |
| 1:182555067 | L>P | B:292 | (-9.45, -3.89, 111.92) | |
| 1:182555065 | C>G | B:293 | (-12.64, -7.34, 112.80) | |
| 1:182555062 | rs143544690 | K>E | B:294 | (-12.55, -7.28, 117.67) |
| 1:182555058 | R>H | B:295 | (-13.43, -1.02, 116.66) | |
| 1:182555053 | A>T | B:297 | (-14.42, -4.14, 109.66) | |
| 1:182555046 | T>R | B:299 | (-15.37, -8.93, 105.82) | |
| 1:182555032 | L>V | B:304 | (-10.03, -11.56, 103.31) | |
| 1:182555019 | rs554935584 | A>V | B:308 | (-5.17, -16.64, 105.15) |
| 1:182555020 | A>T | B:308 | (-5.17, -16.64, 105.15) | |
| 1:182555013 | R>Q | B:310 | (-3.02, -18.01, 99.53) | |
| 1:182554965 | K>R | B:326 | (-16.99, -13.57, 101.00) | |
| 1:182554966 | rs370880759 | K>E | B:326 | (-16.99, -13.57, 101.00) |
| 1:182554932 | K>M | B:337 | (-5.78, -14.18, 74.30) | |
| 1:182554913 | W>C | B:343 | (6.47, -20.09, 74.59) | |
| 1:182554906 | A>T | B:346 | (1.58, -21.28, 79.85) | |
| 1:182554898 | rs368121242 | K>N | B:348 | (-3.87, -18.81, 78.77) |
| 1:182554896 | D>V | B:349 | (-1.85, -21.45, 83.13) | |
| 1:182554883 | rs557176736 | I>M | B:353 | (-1.44, -18.66, 88.81) |
| 1:182554878 | R>L | B:355 | (3.28, -16.43, 92.25) | |
| 1:182554879 | rs148464936 | R>C | B:355 | (3.28, -16.43, 92.25) |
| 1:182554873 | rs375149435 | M>V | B:357 | (3.81, -9.36, 92.29) |
| 1:182554864 | K>E | B:360 | (7.02, -3.49, 87.55) | |
| 1:182554843 | E>Q | B:367 | (10.19, -27.31, 84.52) | |
| 1:182554810 | G>S | B:378 | (16.79, -19.39, 83.75) | |
| 1:182554797 | rs546259318 | G>E | B:382 | (6.32, -13.41, 82.06) |
| 1:182554792 | Y>H | B:384 | (8.23, -5.51, 83.67) | |
| 1:182554783 | Q>E | B:387 | (3.21, -6.53, 78.96) | |
| 1:182554778 | E>D | B:388 | (3.82, -11.64, 76.72) | |
| 1:182554766 | rs374634843 | K>N | B:392 | (18.36, -14.16, 81.74) |
| 1:182554764 | T>M | B:393 | (17.80, -15.92, 86.07) | |
| 1:182554752 | G>D | B:397 | (26.74, -10.00, 91.23) | |
| 1:182554743 | rs137993708 | R>P | B:400 | (27.27, -14.84, 82.95) |
| 1:182554744 | rs377048179 COSM1500402 |
R>C | B:400 | (27.27, -14.84, 82.95) |
| 1:182554734 | rs141194514 | R>Q | B:403 | (29.22, -9.59, 81.45) |
| 1:182554735 | R>G | B:403 | (29.22, -9.59, 81.45) | |
| 1:182554728 | V>A | B:405 | (22.34, -5.18, 82.87) | |
| 1:182554725 | rs145787003 | S>F | B:406 | (25.34, -3.01, 81.26) |
| 1:182554722 | rs376651440 | C>Y | B:407 | (24.26, -3.96, 77.21) |
| 1:182554717 | rs563565046 COSM900679 |
Q>K | B:409 | (21.08, -0.44, 81.33) |
| 1:182554711 | rs551605499 | S>G | B:411 | (20.56, -1.05, 73.97) |
| 1:182554691 | L>F | B:417 | (18.81, -5.59, 70.00) | |
| 1:182554681 | Y>H | B:421 | (10.05, -5.04, 78.17) | |
| 1:182554673 | S>R | B:423 | (15.22, -5.04, 86.12) | |
| 1:182554657 | H>Y | B:429 | (17.91, -13.63, 93.65) | |
| 1:182554636 | L>F | B:436 | (8.47, -13.72, 74.45) | |
| 1:182554557 | rs486907 | R>Q | B:462 | (18.57, -12.54, 50.75) |
| 1:182554553 | N>K | B:463 | (15.63, -11.35, 55.76) | |
| 1:182554540 | I>V | B:468 | (21.86, -10.18, 62.55) | |
| 1:182554521 | E>G | B:474 | (22.68, -0.76, 65.95) | |
| 1:182554522 | E>K | B:474 | (22.68, -0.76, 65.95) | |
| 1:182554514 | H>Q | B:476 | (29.99, -3.15, 67.40) | |
| 1:182554506 | C>Y | B:479 | (25.89, 0.62, 72.05) | |
| 1:182554493 | rs190359946 | H>Q | B:483 | (27.44, -10.66, 71.62) |
| 1:182554489 | COSM900675 | D>N | B:485 | (27.93, -15.67, 72.15) |
| 1:182554473 | rs557182938 | N>S | B:490 | (22.08, -16.07, 70.97) |
| 1:182554465 | I>V | B:493 | (12.76, -15.89, 65.44) | |
| 1:182553299 | rs530895130 | S>P | B:495 | (5.59, -14.09, 65.31) |
| 1:182553287 | A>T | B:499 | (15.24, -11.23, 63.88) | |
| 1:182553278 | A>T | B:502 | (20.45, -11.99, 72.22) | |
| 1:182553266 | rs533485839 | K>E | B:506 | (29.80, -14.06, 77.27) |
| 1:182551393 | D>N | B:523 | (31.57, -15.49, 65.08) | |
| 1:182551389 | L>P | B:524 | (28.74, -12.52, 61.40) | |
| 1:182551383 | rs370214447 | R>Q | B:526 | (32.54, -18.82, 61.16) |
| 1:182551384 | rs371856235 | R>W | B:526 | (32.54, -18.82, 61.16) |
| 1:182551371 | Y>C | B:530 | (23.85, -22.17, 60.67) | |
| 1:182551362 | K>R | B:533 | (24.71, -24.86, 54.01) | |
| 1:182551353 | rs371715795 | S>N | B:536 | (23.51, -28.47, 57.54) |
| 1:182551350 | I>T | B:537 | (26.94, -27.16, 58.83) | |
| 1:182551351 | rs146365994 | I>V | B:537 | (26.94, -27.16, 58.83) |
| 1:182551344 | COSM463523 | F>S | B:539 | (28.26, -21.91, 64.78) |
| 1:182551337 | rs627928 | D>E | B:541 | (31.66, -27.86, 63.18) |
| 1:182551336 | L>V | B:542 | (31.45, -23.70, 61.29) | |
| 1:182551329 | rs141087868 | A>D | B:544 | (36.59, -25.59, 64.42) |
| 1:182551282 | K>E | B:560 | (33.48, -17.52, 48.47) | |
| 1:182551269 | H>P | B:564 | (37.42, -12.79, 52.15) | |
| 1:182551266 | rs143649586 | R>H | B:565 | (34.43, -8.18, 51.29) |
| 1:182551267 | rs200397730 COSM3479911 |
R>C | B:565 | (34.43, -8.18, 51.29) |
| 1:182551254 | P>H | B:569 | (38.42, -6.32, 57.37) | |
| 1:182551251 | G>E | B:570 | (39.86, -3.03, 56.53) | |
| 1:182551245 | H>P | B:572 | (37.92, 1.81, 56.07) | |
| 1:182551243 | rs372951844 | V>M | B:573 | (36.59, -2.03, 60.46) |
| 1:182551233 | C>Y | B:576 | (32.06, -3.34, 57.40) | |
| 1:182551234 | C>S | B:576 | (32.06, -3.34, 57.40) | |
| 1:182551225 | D>H | B:579 | (29.90, -0.96, 53.25) | |
| 1:182551192 | rs558307922 | E>K | B:590 | (15.05, -9.11, 39.28) |
| 1:182551188 | rs539968580 | S>N | B:591 | (18.35, -6.92, 41.58) |
| 1:182550491 | rs534960363 | R>C | B:592 | (21.87, -10.84, 42.05) |
| 1:182550481 | rs147890567 | T>M | B:595 | (22.50, -4.65, 37.77) |
| 1:182550482 | T>A | B:595 | (22.50, -4.65, 37.77) | |
| 1:182550478 | COSM4025862 | L>H | B:596 | (23.92, -7.57, 34.92) |
| 1:182550475 | rs375872977 | R>Q | B:597 | (18.72, -5.90, 32.05) |
| 1:182550476 | R>W | B:597 | (18.72, -5.90, 32.05) | |
| 1:182550463 | rs142133260 | N>S | B:601 | (22.05, 0.25, 28.47) |
| 1:182550455 | rs369109378 | D>N | B:604 | (30.54, 3.24, 26.20) |
| 1:182550451 | I>T | B:605 | (29.27, -1.73, 26.68) | |
| 1:182550448 | K>R | B:606 | (25.42, -0.43, 23.63) | |
| 1:182550445 | T>I | B:607 | (29.63, 1.03, 21.17) | |
| 1:182550442 | R>Q | B:608 | (32.84, -3.63, 20.58) | |
| 1:182550432 | rs376567380 | E>D | B:611 | (40.93, 3.59, 25.15) |
| 1:182550426 | E>D | B:613 | (35.84, 4.92, 32.56) | |
| 1:182550418 | rs147610466 | R>T | B:616 | (39.75, 1.34, 32.61) |
| 1:182550419 | R>G | B:616 | (39.75, 1.34, 32.61) | |
| 1:182550388 | S>C | B:626 | (39.24, -19.40, 35.73) | |
| 1:182550385 | rs149964724 | K>R | B:627 | (36.62, -15.98, 35.84) |
| 1:182550371 | W>R | B:632 | (30.09, -14.78, 26.29) | |
| 1:182550367 | T>M | B:633 | (30.08, -17.24, 23.20) | |
| 1:182550361 | K>R | B:635 | (29.88, -21.95, 27.97) | |
| 1:182545518 | COSM1336954 | E>K | B:638 | (24.26, -23.82, 19.15) |
| 1:182545511 | V>G | B:640 | (19.99, -18.44, 21.91) | |
| 1:182545508 | M>K | B:641 | (24.49, -16.91, 20.50) | |
| 1:182545484 | E>G | B:649 | (23.49, -10.85, 9.54) | |
| 1:182545479 | R>G | B:651 | (27.68, -2.86, 10.00) | |
| 1:182545476 | G>R | B:652 | (29.57, -8.47, 11.77) | |
| 1:182545466 | Y>F | B:655 | (27.18, -10.65, 20.82) | |
| 1:182545455 | rs563976843 | V>L | B:659 | (32.92, -8.81, 30.16) |
| 1:182545436 | rs200188532 | F>C | B:665 | (23.71, -11.79, 25.31) |
| 1:182545433 | I>T | B:666 | (22.60, -9.92, 29.78) | |
| 1:182545434 | rs368181945 | I>V | B:666 | (22.60, -9.92, 29.78) |
| 1:182545431 | rs374614472 | R>W | B:667 | (20.16, -4.44, 26.83) |
| 1:182545414 | H>Q | B:672 | (14.23, -9.60, 23.25) | |
| 1:182545412 | rs150721457 | I>T | B:673 | (12.61, -12.19, 26.87) |
| 1:182545413 | rs200240346 | I>V | B:673 | (12.61, -12.19, 26.87) |
| 1:182545391 | rs199662278 | K>R | B:680 | (10.41, -19.33, 20.37) |
| 1:182544712 | M>L | B:681 | (14.47, -17.16, 23.42) | |
| 1:182544702 | rs373233085 | K>R | B:684 | (15.59, -22.98, 24.57) |
| 1:182544687 | rs138978618 | S>F | B:689 | (18.24, -14.43, 36.74) |
| 1:182544676 | rs377323259 | Q>E | B:693 | (22.96, -16.17, 38.67) |
| 1:182544655 | V>M | B:700 | (27.40, -10.59, 40.06) | |
| 1:182544616 | R>G | B:713 | (28.41, 3.80, 42.83) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:182555647 | COSM900686 | A>T | B:99 | (20.51, 30.47, 111.10) |
| 1:182555637 | COSM277078 | A>V | B:102 | (21.89, 26.05, 112.78) |
| 1:182555116 | COSM1601350 | A>S | B:276 | (-6.93, -1.95, 106.16) |
| 1:182555014 | COSM900682 | R>W | B:310 | (-3.02, -18.01, 99.53) |
| 1:182554557 | COSM3750683 | R>Q | B:462 | (18.57, -12.54, 50.75) |
| 1:182553243 | COSM3705311 | D>E | B:513 | (40.83, -4.61, 71.24) |
| 1:182545522 | COSM3418455 | I>M | B:636 | (25.48, -19.49, 25.27) |
| 1:182544693 | COSM1336951 | D>G | B:687 | (14.69, -17.39, 35.36) |