General Structure Information
| PDB ID | 3e0g |
| HGNC Gene Label(s) | LIFR |
| Structure Name | structure of the leukemia inhibitory factor receptor (lif-r) domains d1-d5 |
| Resolution | 3.1Å |
| Reference | AUTH G.SKINIOTIS,P.J.LUPARDUS,M.MARTICK,T.WALZ,K.C.GARCIATITL STRUCTURAL ORGANIZATION OF A FULL-LENGTH GP130/LIF-RTITL 2 CYTOKINE RECEPTOR TRANSMEMBRANE COMPLEX.REF MOL.CELL V. 31 737 2008REFN ISSN 1097-2765PMID 18775332DOI 10.1016/J.MOLCEL.2008.08.011 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 479 |
| Number Of SNVs | 125 |
| Number Of Permutations | 62555 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.157 |
| p-value | 0.056 |
COSMIC
| Number Of Residues | 479 |
| Number Of SNVs | 16 |
| Number Of Permutations | 36998 |
| Optimal Distance Threshold | 75.0 |
| K Statistic | 0.492 |
| p-value | 0.02 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 125 |
| Number Of COSMIC SNVs | 10 |
| Optimal Distance Threshold | 80.0 |
| K Statistic | -0.273 |
| p-value | 0.009 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:38528931 | D>Y | A:1 | (22.15, -66.54, 48.93) | |
| 5:38528910 | N>H | A:8 | (10.47, -47.63, 48.50) | |
| 5:38528885 | W>S | A:16 | (13.81, -67.15, 49.67) | |
| 5:38528867 | rs368802712 | T>I | A:22 | (12.49, -79.44, 48.64) |
| 5:38528861 | COSM3357888 COSM3357889 |
R>H | A:24 | (10.56, -78.13, 39.66) |
| 5:38528849 | rs200816368 | Y>C | A:28 | (8.22, -71.61, 49.65) |
| 5:38528850 | Y>N | A:28 | (8.22, -71.61, 49.65) | |
| 5:38528838 | rs61751710 | I>V | A:32 | (7.11, -61.13, 59.64) |
| 5:38527394 | rs267600620 | S>F | A:36 | (3.71, -57.91, 64.86) |
| 5:38527382 | Y>C | A:40 | (3.41, -63.05, 54.24) | |
| 5:38527371 | K>E | A:44 | (8.11, -67.26, 43.12) | |
| 5:38527367 | T>N | A:45 | (11.86, -66.52, 46.34) | |
| 5:38527346 | L>R | A:52 | (11.60, -52.21, 60.47) | |
| 5:38527347 | L>V | A:52 | (11.60, -52.21, 60.47) | |
| 5:38527344 | S>P | A:53 | (13.25, -48.26, 60.71) | |
| 5:38527340 | rs143068676 | H>R | A:54 | (15.13, -47.48, 63.77) |
| 5:38527326 | rs74988893 | I>V | A:59 | (12.66, -64.32, 59.00) |
| 5:38527323 | T>A | A:60 | (9.79, -68.22, 59.80) | |
| 5:38527320 | rs549423718 | I>V | A:61 | (11.26, -69.90, 55.76) |
| 5:38527316 | N>S | A:62 | (8.22, -73.11, 56.42) | |
| 5:38527310 | L>P | A:64 | (4.81, -76.47, 52.35) | |
| 5:38527307 | H>R | A:65 | (6.20, -81.78, 52.60) | |
| 5:38527308 | rs3729734 | H>Y | A:65 | (6.20, -81.78, 52.60) |
| 5:38527286 | rs548919656 | S>N | A:72 | (12.86, -75.73, 57.67) |
| 5:38527265 | Q>P | A:79 | (18.78, -55.12, 60.92) | |
| 5:38523676 | P>A | A:85 | (17.70, -46.20, 43.01) | |
| 5:38523672 | D>G | A:86 | (13.44, -46.31, 40.51) | |
| 5:38523666 | COSM3616195 COSM3616196 |
P>L | A:88 | (16.52, -42.98, 35.64) |
| 5:38523663 | E>A | A:89 | (12.49, -41.98, 31.94) | |
| 5:38523657 | L>S | A:91 | (11.23, -36.19, 29.26) | |
| 5:38523658 | L>V | A:91 | (11.23, -36.19, 29.26) | |
| 5:38523654 | rs540415185 | N>S | A:92 | (13.08, -33.93, 25.27) |
| 5:38523630 | rs61751712 | S>C | A:100 | (26.34, -27.36, 18.21) |
| 5:38523615 | K>R | A:105 | (14.05, -31.69, 29.14) | |
| 5:38523607 | D>N | A:108 | (12.58, -36.11, 39.79) | |
| 5:38523603 | R>T | A:109 | (8.31, -40.69, 39.64) | |
| 5:38523583 | R>C | A:116 | (13.40, -33.36, 53.63) | |
| 5:38523579 | S>L | A:117 | (16.43, -36.96, 50.09) | |
| 5:38523577 | N>D | A:118 | (20.30, -35.48, 49.34) | |
| 5:38523558 | K>R | A:124 | (26.92, -40.87, 30.07) | |
| 5:38523549 | rs535910809 COSM3941313 COSM3941314 |
R>H | A:127 | (31.16, -37.52, 20.01) |
| 5:38523550 | COSM1213346 COSM1213347 |
R>C | A:127 | (31.16, -37.52, 20.01) |
| 5:38523546 | K>R | A:128 | (29.50, -43.94, 18.37) | |
| 5:38523529 | rs140538535 | V>I | A:134 | (30.52, -34.70, 28.89) |
| 5:38512066 | V>M | A:137 | (28.06, -34.14, 38.70) | |
| 5:38512032 | rs377651108 | T>I | A:148 | (11.34, -31.95, 40.29) |
| 5:38512024 | H>Y | A:151 | (15.91, -28.30, 32.54) | |
| 5:38512012 | rs373752138 | A>T | A:155 | (28.28, -27.09, 23.85) |
| 5:38512002 | rs182922893 | M>T | A:158 | (32.00, -32.39, 17.32) |
| 5:38511976 | rs561180110 | V>M | A:167 | (22.57, -39.08, 26.58) |
| 5:38511969 | I>T | A:169 | (20.82, -40.25, 33.43) | |
| 5:38511958 | rs151282774 | I>V | A:173 | (19.15, -41.66, 46.59) |
| 5:38511951 | rs372684492 | N>S | A:175 | (18.13, -41.02, 53.55) |
| 5:38511945 | H>R | A:177 | (17.58, -40.52, 58.95) | |
| 5:38511942 | F>Y | A:178 | (18.87, -46.39, 54.76) | |
| 5:38511936 | G>V | A:180 | (21.64, -49.09, 54.42) | |
| 5:38511931 | E>K | A:182 | (22.96, -45.69, 49.91) | |
| 5:38511900 | N>S | A:192 | (20.03, -41.59, 19.69) | |
| 5:38511895 | S>P | A:194 | (21.70, -38.26, 14.44) | |
| 5:38510816 | I>M | A:196 | (19.42, -36.55, 8.75) | |
| 5:38510818 | I>V | A:196 | (19.42, -36.55, 8.75) | |
| 5:38510773 | L>I | A:211 | (39.18, -15.10, 20.69) | |
| 5:38510769 | V>E | A:212 | (42.56, -14.86, 18.29) | |
| 5:38510770 | V>I | A:212 | (42.56, -14.86, 18.29) | |
| 5:38510763 | S>L | A:214 | (41.17, -20.35, 20.06) | |
| 5:38510761 | D>H | A:215 | (41.12, -24.35, 20.63) | |
| 5:38510745 | C>F | A:220 | (33.77, -33.95, 7.10) | |
| 5:38510742 | rs536077939 | V>E | A:221 | (30.21, -35.28, 6.17) |
| 5:38510743 | V>M | A:221 | (30.21, -35.28, 6.17) | |
| 5:38510730 | K>T | A:225 | (38.75, -41.97, 2.12) | |
| 5:38510721 | rs186429110 | S>L | A:228 | (43.58, -34.51, 3.08) |
| 5:38510703 | T>I | A:234 | (48.81, -26.90, 7.79) | |
| 5:38510704 | rs375264714 | T>A | A:234 | (48.81, -26.90, 7.79) |
| 5:38510694 | P>L | A:237 | (45.91, -34.65, 11.54) | |
| 5:38510662 | I>V | A:248 | (40.08, -31.22, 12.07) | |
| 5:38510652 | COSM71434 | R>H | A:251 | (45.33, -27.66, 18.79) |
| 5:38510653 | rs61751714 | R>C | A:251 | (45.33, -27.66, 18.79) |
| 5:38510650 | N>D | A:252 | (46.86, -20.94, 19.09) | |
| 5:38510605 | rs112569049 | T>A | A:267 | (38.25, -36.17, -2.04) |
| 5:38510602 | COSM282411 COSM282412 |
E>K | A:268 | (39.91, -39.39, -5.71) |
| 5:38510583 | T>N | A:274 | (34.82, -23.70, 5.56) | |
| 5:38510581 | COSM1067925 COSM1067926 |
V>I | A:275 | (35.66, -20.04, 6.11) |
| 5:38506722 | T>I | A:284 | (36.96, 0.80, 24.62) | |
| 5:38506695 | rs202228653 | H>R | A:293 | (30.16, 23.86, 14.60) |
| 5:38506696 | rs531375428 | H>Y | A:293 | (30.16, 23.86, 14.60) |
| 5:38506675 | rs147656145 | C>R | A:300 | (30.14, 12.60, 18.97) |
| 5:38506662 | P>L | A:304 | (38.96, 3.13, 16.85) | |
| 5:38506164 | K>N | A:327 | (18.03, 10.40, 20.73) | |
| 5:38506157 | R>G | A:330 | (23.38, 0.72, 15.41) | |
| 5:38506151 | K>E | A:332 | (25.92, 1.10, 8.93) | |
| 5:38506145 | COSM1581148 COSM1581149 |
A>T | A:334 | (31.58, 1.64, 5.12) |
| 5:38506139 | A>T | A:336 | (36.82, 1.05, 5.60) | |
| 5:38506125 | rs369962556 | E>D | A:340 | (42.25, 6.43, 12.73) |
| 5:38506127 | rs373421600 COSM275851 COSM275852 |
E>K | A:340 | (42.25, 6.43, 12.73) |
| 5:38506123 | rs190587141 | S>N | A:341 | (38.48, 8.79, 13.03) |
| 5:38506108 | rs369830202 | F>C | A:346 | (22.30, 13.63, 19.18) |
| 5:38506103 | rs557628661 | M>V | A:348 | (20.29, 20.03, 20.38) |
| 5:38506100 | rs565713993 | L>F | A:349 | (16.54, 17.61, 22.38) |
| 5:38506084 | I>K | A:354 | (22.39, 18.35, 29.93) | |
| 5:38506085 | I>V | A:354 | (22.39, 18.35, 29.93) | |
| 5:38506081 | Y>C | A:355 | (22.91, 16.51, 25.89) | |
| 5:38506054 | P>L | A:364 | (30.78, -10.86, 16.44) | |
| 5:38506045 | COSM312503 COSM312504 |
R>Q | A:367 | (28.40, -5.50, 22.97) |
| 5:38506031 | rs144606459 | I>V | A:372 | (31.06, 11.55, 27.96) |
| 5:38506026 | L>F | A:373 | (28.38, 14.17, 31.25) | |
| 5:38506013 | E>K | A:378 | (30.62, 24.09, 29.28) | |
| 5:38504217 | P>L | A:382 | (32.49, 28.43, 16.68) | |
| 5:38504214 | H>R | A:383 | (32.40, 27.44, 10.90) | |
| 5:38504211 | T>I | A:384 | (34.57, 30.65, 9.91) | |
| 5:38504206 | T>S | A:386 | (31.09, 34.86, 5.91) | |
| 5:38504198 | rs149305499 | F>L | A:388 | (34.45, 40.99, 6.35) |
| 5:38504193 | V>G | A:390 | (35.60, 47.96, 5.82) | |
| 5:38504164 | L>F | A:400 | (33.53, 45.84, 11.29) | |
| 5:38504156 | W>C | A:402 | (31.44, 40.13, 12.85) | |
| 5:38504146 | G>R | A:406 | (23.18, 29.77, 13.54) | |
| 5:38504138 | F>L | A:408 | (24.67, 31.27, 18.47) | |
| 5:38504132 | rs574178742 | K>N | A:410 | (20.31, 31.48, 23.78) |
| 5:38504121 | rs200606301 | L>S | A:414 | (35.18, 37.37, 23.55) |
| 5:38504098 | rs543824186 | S>P | A:422 | (52.02, 49.85, 8.46) |
| 5:38504094 | rs533340021 | N>S | A:423 | (53.61, 46.23, 7.29) |
| 5:38504091 | S>L | A:424 | (54.60, 47.23, 11.96) | |
| 5:38504086 | Q>K | A:426 | (48.72, 43.25, 15.64) | |
| 5:38502900 | COSM2689027 COSM2689026 |
R>Q | A:429 | (40.51, 46.87, 19.13) |
| 5:38502885 | K>R | A:434 | (23.30, 39.21, 21.90) | |
| 5:38502867 | S>I | A:440 | (24.94, 39.42, 10.15) | |
| 5:38502848 | rs188129112 | D>E | A:446 | (37.54, 54.47, 19.07) |
| 5:38502849 | rs556703965 | D>G | A:446 | (37.54, 54.47, 19.07) |
| 5:38502850 | rs375002438 | D>Y | A:446 | (37.54, 54.47, 19.07) |
| 5:38502844 | L>I | A:448 | (41.19, 54.21, 13.96) | |
| 5:38502829 | L>V | A:453 | (49.14, 51.41, 4.88) | |
| 5:38502826 | Y>H | A:454 | (45.90, 50.53, 9.80) | |
| 5:38502816 | COSM292422 COSM292423 |
R>Q | A:457 | (42.57, 38.26, 10.34) |
| 5:38502814 | I>L | A:458 | (37.95, 38.43, 12.42) | |
| 5:38502799 | E>K | A:463 | (29.36, 33.92, 27.78) | |
| 5:38502792 | COSM1671606 COSM1671605 |
F>S | A:465 | (34.57, 27.02, 29.20) |
| 5:38502793 | F>V | A:465 | (34.57, 27.02, 29.20) | |
| 5:38502782 | W>C | A:468 | (39.52, 31.40, 20.56) | |
| 5:38502772 | S>G | A:472 | (38.34, 35.72, 8.52) | |
| 5:38502766 | K>E | A:474 | (43.58, 39.38, 5.29) | |
| 5:38502748 | T>A | A:480 | (38.98, 59.03, 4.04) | |
| 5:38502742 | A>T | A:482 | (42.12, 63.53, 1.97) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:38528889 | COSM1437457 | S>P | A:15 | (15.28, -62.70, 47.41) |
| 5:38527391 | COSM1067937 | R>H | A:37 | (0.06, -60.98, 63.76) |
| 5:38527317 | COSM1671607 | N>H | A:62 | (8.22, -73.11, 56.42) |
| 5:38523567 | COSM365834 | W>L | A:121 | (20.19, -36.67, 39.12) |
| 5:38523550 | COSM1213346 | R>C | A:127 | (31.16, -37.52, 20.01) |
| 5:38523540 | COSM312502 | S>T | A:130 | (31.96, -45.76, 22.43) |
| 5:38510731 | COSM1620302 | K>E | A:225 | (38.75, -41.97, 2.12) |
| 5:38510602 | COSM282411 | E>K | A:268 | (39.91, -39.39, -5.71) |
| 5:38506127 | COSM275851 | E>K | A:340 | (42.25, 6.43, 12.73) |
| 5:38504172 | COSM3429444 | A>D | A:397 | (36.43, 54.76, 12.35) |
| 5:38504110 | COSM449626 | E>K | A:418 | (43.79, 40.97, 14.69) |
| 5:38504099 | COSM3661819 | K>N | A:421 | (50.00, 50.28, 11.51) |
| 5:38502862 | COSM1196899 | L>F | A:442 | (25.94, 45.26, 13.98) |
| 5:38502817 | COSM1213348 | R>W | A:457 | (42.57, 38.26, 10.34) |
| 5:38502811 | COSM232677 | R>C | A:459 | (40.57, 35.00, 17.06) |
| 5:38502764 | COSM1437446 | K>N | A:474 | (43.58, 39.38, 5.29) |
| 5:38502757 | COSM2689021 | H>Y | A:477 | (38.23, 49.77, 2.80) |
| 5:38502741 | COSM1437445 | A>D | A:482 | (42.12, 63.53, 1.97) |