General Structure Information
| PDB ID | 1bp1 |
| HGNC Gene Label(s) | BPI |
| Structure Name | crystal structure of bpi, the human bactericidal permeability-increasing protein |
| Resolution | 2.4Å |
| Reference | AUTH L.J.BEAMER,S.F.CARROLL,D.EISENBERGTITL CRYSTAL STRUCTURE OF HUMAN BPI AND TWO BOUNDTITL 2 PHOSPHOLIPIDS AT 2.4 ANGSTROM RESOLUTION.REF SCIENCE V. 276 1861 1997REFN ISSN 0036-8075PMID 9188532DOI 10.1126/SCIENCE.276.5320.1861 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 456 |
| Number Of SNVs | 150 |
| Number Of Permutations | 87335 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.011 |
| p-value | 0.313 |
COSMIC
| Number Of Residues | 456 |
| Number Of SNVs | 8 |
| Number Of Permutations | 4258 |
| Optimal Distance Threshold | 4.0 |
| K Statistic | 0.036 |
| p-value | 0.975 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 150 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 4.0 |
| K Statistic | 0.046 |
| p-value | 0.89 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 20:36932707 | COSM4098242 | V>I | A:1 | (96.34, 11.91, 17.33) |
| 20:36932719 | rs145265915 | V>I | A:5 | (97.67, 23.02, 16.92) |
| 20:36932720 | V>G | A:5 | (97.67, 23.02, 16.92) | |
| 20:36932722 | V>M | A:6 | (99.38, 22.96, 12.98) | |
| 20:36932730 | COSM3546188 | R>S | A:8 | (102.58, 25.04, 7.54) |
| 20:36932743 | G>S | A:13 | (111.02, 32.24, 8.37) | |
| 20:36932746 | L>V | A:14 | (113.33, 29.23, 7.68) | |
| 20:36932752 | Y>H | A:16 | (113.97, 36.67, 11.13) | |
| 20:36932755 | rs143151891 | A>T | A:17 | (116.14, 32.14, 11.47) |
| 20:36935972 | S>N | A:18 | (118.98, 32.32, 9.17) | |
| 20:36935981 | rs553515446 | G>E | A:21 | (121.94, 33.10, 13.62) |
| 20:36935984 | T>M | A:22 | (124.37, 34.00, 11.00) | |
| 20:36935986 | A>T | A:23 | (124.50, 36.79, 13.86) | |
| 20:36935989 | rs148247914 | A>T | A:24 | (124.90, 34.54, 16.56) |
| 20:36936001 | E>Q | A:28 | (131.01, 31.91, 19.24) | |
| 20:36936002 | E>G | A:28 | (131.01, 31.91, 19.24) | |
| 20:36936026 | rs572225651 COSM577494 |
D>G | A:36 | (151.28, 30.88, 18.40) |
| 20:36936027 | D>E | A:36 | (151.28, 30.88, 18.40) | |
| 20:36936028 | Y>D | A:37 | (151.54, 28.82, 13.88) | |
| 20:36936034 | D>N | A:39 | (159.71, 26.51, 12.95) | |
| 20:36936055 | L>F | A:46 | (168.97, 34.08, 4.71) | |
| 20:36936071 | Y>C | A:51 | (159.12, 30.79, 11.81) | |
| 20:36937334 | rs373704456 | M>T | A:56 | (147.33, 35.43, 15.69) |
| 20:36937336 | D>Y | A:57 | (143.52, 38.49, 17.61) | |
| 20:36937342 | rs5743500 | R>C | A:59 | (140.95, 42.60, 15.23) |
| 20:36937343 | R>H | A:59 | (140.95, 42.60, 15.23) | |
| 20:36937349 | rs370368653 | F>S | A:61 | (134.42, 35.72, 10.85) |
| 20:36937370 | rs147014878 | I>R | A:68 | (117.96, 27.60, 5.67) |
| 20:36937378 | V>M | A:71 | (116.01, 18.50, 2.60) | |
| 20:36937385 | N>S | A:73 | (111.35, 13.61, 4.31) | |
| 20:36937400 | F>S | A:78 | (123.45, 27.19, 7.66) | |
| 20:36937405 | I>V | A:80 | (127.80, 30.60, 5.10) | |
| 20:36937412 | N>S | A:82 | (131.90, 35.63, 0.60) | |
| 20:36937414 | rs542938869 | A>T | A:83 | (133.51, 34.34, 4.22) |
| 20:36937418 | N>S | A:84 | (136.00, 38.15, 5.40) | |
| 20:36937420 | I>F | A:85 | (138.46, 35.42, 8.15) | |
| 20:36937435 | rs549880214 | K>Q | A:90 | (152.55, 40.55, 16.94) |
| 20:36937444 | rs570447254 | A>T | A:93 | (162.88, 36.89, 13.09) |
| 20:36937456 | F>L | A:97 | (173.92, 37.86, 17.07) | |
| 20:36938898 | M>R | A:100 | (163.88, 40.83, 12.27) | |
| 20:36938899 | rs147136315 | M>I | A:100 | (163.88, 40.83, 12.27) |
| 20:36938903 | G>S | A:102 | (156.26, 42.82, 13.57) | |
| 20:36938913 | D>A | A:105 | (147.66, 42.05, 8.25) | |
| 20:36938920 | S>R | A:107 | (143.29, 37.85, 4.51) | |
| 20:36938924 | rs5743506 | E>Q | A:109 | (138.69, 36.21, 1.13) |
| 20:36938926 | E>D | A:109 | (138.69, 36.21, 1.13) | |
| 20:36938936 | rs144469725 | I>V | A:113 | (130.22, 27.43, 6.44) |
| 20:36938940 | rs201900727 | S>L | A:114 | (127.88, 23.39, 5.15) |
| 20:36938960 | S>G | A:121 | (110.73, 14.73, 19.14) | |
| 20:36938966 | P>S | A:123 | (108.69, 11.76, 23.49) | |
| 20:36938970 | T>M | A:124 | (109.20, 11.94, 27.47) | |
| 20:36938979 | rs539482020 | K>M | A:127 | (110.04, 20.17, 24.54) |
| 20:36938991 | rs148772768 | T>I | A:131 | (120.94, 18.07, 15.96) |
| 20:36939011 | H>D | A:138 | (136.30, 25.61, 1.18) | |
| 20:36939015 | rs546137094 | I>N | A:139 | (139.60, 28.35, 3.15) |
| 20:36939033 | H>R | A:145 | (148.52, 41.46, 3.14) | |
| 20:36939051 | V>A | A:151 | (160.47, 39.90, 4.52) | |
| 20:36940287 | Q>R | A:156 | (158.68, 31.35, 1.41) | |
| 20:36940292 | rs573509091 | F>V | A:158 | (152.27, 31.80, 6.37) |
| 20:36940305 | I>T | A:162 | (152.18, 28.26, 8.68) | |
| 20:36940309 | E>D | A:163 | (148.52, 28.34, 4.15) | |
| 20:36940311 | rs543954563 | S>F | A:164 | (148.69, 23.99, 5.44) |
| 20:36940314 | rs5743509 | A>V | A:165 | (147.70, 24.40, 9.42) |
| 20:36940316 | L>F | A:166 | (145.95, 28.49, 9.62) | |
| 20:36940319 | COSM3911279 | R>G | A:167 | (143.65, 26.24, 5.01) |
| 20:36946815 | V>L | A:174 | (134.15, 26.97, 12.11) | |
| 20:36946821 | E>K | A:176 | (134.41, 22.97, 17.44) | |
| 20:36946828 | V>A | A:178 | (128.42, 25.43, 14.15) | |
| 20:36946831 | rs151033582 | T>N | A:179 | (128.21, 21.63, 16.18) |
| 20:36946834 | COSM1026637 | N>S | A:180 | (128.99, 23.37, 20.00) |
| 20:36946836 | S>A | A:181 | (125.89, 26.65, 18.81) | |
| 20:36946837 | rs372552649 COSM1246192 |
S>F | A:181 | (125.89, 26.65, 18.81) |
| 20:36946840 | V>A | A:182 | (123.17, 23.70, 17.48) | |
| 20:36946848 | rs4358188 | E>K | A:185 | (122.57, 28.00, 21.97) |
| 20:36946857 | P>S | A:188 | (118.22, 25.19, 24.17) | |
| 20:36946858 | P>L | A:188 | (118.22, 25.19, 24.17) | |
| 20:36946860 | rs375120673 | Y>D | A:189 | (114.99, 29.82, 21.33) |
| 20:36946868 | Q>H | A:191 | (113.59, 23.13, 24.33) | |
| 20:36946875 | rs111327200 | P>T | A:194 | (105.02, 26.70, 25.04) |
| 20:36948606 | V>A | A:202 | (91.22, 26.37, 36.08) | |
| 20:36948608 | A>P | A:203 | (93.40, 26.09, 32.86) | |
| 20:36948618 | rs539302346 | N>S | A:206 | (98.97, 20.34, 25.63) |
| 20:36948624 | G>D | A:208 | (102.60, 19.22, 22.41) | |
| 20:36948629 | rs377617756 | V>M | A:210 | (102.15, 14.81, 18.50) |
| 20:36948632 | A>T | A:211 | (105.37, 14.53, 16.06) | |
| 20:36948648 | rs141359903 | T>M | A:216 | (108.19, 20.03, 3.27) |
| 20:36948675 | K>T | A:225 | (97.55, 17.39, 21.96) | |
| 20:36952273 | G>E | A:226 | (95.68, 21.27, 21.43) | |
| 20:36952276 | E>V | A:227 | (94.14, 19.33, 24.90) | |
| 20:36952285 | S>N | A:230 | (92.33, 20.21, 34.07) | |
| 20:36952300 | rs139584810 | N>S | A:235 | (88.86, 14.91, 30.73) |
| 20:36952302 | rs562325746 | P>A | A:236 | (88.61, 12.93, 27.84) |
| 20:36952305 | P>S | A:237 | (87.92, 15.19, 24.52) | |
| 20:36952314 | rs373645339 | A>S | A:240 | (88.28, 14.59, 16.96) |
| 20:36952335 | rs142265253 | P>S | A:247 | (96.89, 27.18, 2.15) |
| 20:36952336 | rs143052297 | P>R | A:247 | (96.89, 27.18, 2.15) |
| 20:36952342 | rs5741804 | A>V | A:249 | (102.26, 30.33, 2.27) |
| 20:36952347 | D>Y | A:251 | (102.51, 35.89, 2.33) | |
| 20:36952350 | R>C | A:252 | (102.45, 36.97, 6.50) | |
| 20:36952353 | M>L | A:253 | (107.57, 34.61, 8.90) | |
| 20:36952355 | M>I | A:253 | (107.57, 34.61, 8.90) | |
| 20:36952395 | G>R | A:267 | (84.58, 24.79, 27.46) | |
| 20:36952410 | COSM3911280 | E>K | A:272 | (83.59, 19.71, 33.28) |
| 20:36952414 | A>V | A:273 | (84.88, 23.46, 36.99) | |
| 20:36952425 | rs5743513 | K>Q | A:277 | (78.53, 29.05, 38.06) |
| 20:36952442 | D>E | A:282 | (68.78, 44.81, 42.99) | |
| 20:36953187 | rs538755347 | E>D | A:288 | (69.72, 55.38, 37.64) |
| 20:36953233 | E>K | A:304 | (51.99, 34.17, 42.56) | |
| 20:36953234 | E>G | A:304 | (51.99, 34.17, 42.56) | |
| 20:36954670 | rs137967923 | A>T | A:306 | (53.87, 39.79, 45.23) |
| 20:36954671 | rs142171209 | A>V | A:306 | (53.87, 39.79, 45.23) |
| 20:36954673 | K>E | A:307 | (49.92, 36.40, 45.95) | |
| 20:36954676 | K>E | A:308 | (54.36, 33.56, 48.82) | |
| 20:36954685 | N>D | A:311 | (58.59, 44.01, 49.81) | |
| 20:36954687 | rs146359097 | N>K | A:311 | (58.59, 44.01, 49.81) |
| 20:36954688 | rs536359113 | M>V | A:312 | (60.85, 40.07, 49.27) |
| 20:36954704 | H>R | A:317 | (71.49, 31.76, 40.91) | |
| 20:36954709 | S>P | A:319 | (74.40, 28.31, 34.99) | |
| 20:36954710 | S>L | A:319 | (74.40, 28.31, 34.99) | |
| 20:36954724 | rs5743523 | P>S | A:324 | (80.25, 25.98, 25.48) |
| 20:36954729 | H>Q | A:325 | (79.20, 23.65, 21.21) | |
| 20:36954748 | rs150094771 | G>S | A:332 | (82.72, 32.29, 10.85) |
| 20:36954769 | rs144369430 | V>M | A:339 | (72.02, 29.56, 30.16) |
| 20:36954782 | A>V | A:343 | (64.70, 32.81, 40.46) | |
| 20:36954788 | rs577240929 COSM723760 |
A>V | A:345 | (63.38, 34.83, 46.92) |
| 20:36954790 | rs5743524 | V>I | A:346 | (65.67, 37.14, 49.41) |
| 20:36954793 | L>F | A:347 | (63.36, 34.97, 52.59) | |
| 20:36954796 | P>S | A:348 | (63.56, 37.91, 55.84) | |
| 20:36954797 | rs559600284 | P>L | A:348 | (63.56, 37.91, 55.84) |
| 20:36954812 | A>V | A:353 | (63.02, 31.06, 47.39) | |
| 20:36954818 | L>H | A:355 | (60.56, 32.00, 42.18) | |
| 20:36954820 | F>I | A:356 | (61.36, 31.65, 37.86) | |
| 20:36954827 | I>T | A:358 | (64.49, 30.04, 32.71) | |
| 20:36954832 | M>V | A:360 | (68.84, 31.31, 28.08) | |
| 20:36954833 | M>T | A:360 | (68.84, 31.31, 28.08) | |
| 20:36955991 | rs151281669 | H>R | A:361 | (68.40, 28.90, 23.93) |
| 20:36955993 | T>A | A:362 | (71.84, 32.13, 21.88) | |
| 20:36955996 | T>S | A:363 | (73.30, 32.58, 18.25) | |
| 20:36956000 | G>D | A:364 | (76.94, 34.08, 18.14) | |
| 20:36956017 | A>T | A:370 | (95.96, 39.74, 18.19) | |
| 20:36956020 | E>K | A:371 | (97.67, 42.37, 21.86) | |
| 20:36956026 | rs5741809 | N>D | A:373 | (102.26, 36.76, 21.73) |
| 20:36959482 | rs540862302 | G>A | A:394 | (53.30, 28.52, 38.25) |
| 20:36959489 | F>L | A:396 | (55.26, 32.05, 33.63) | |
| 20:36962832 | V>I | A:398 | (58.35, 32.31, 29.12) | |
| 20:36962862 | I>V | A:408 | (70.05, 40.81, 33.06) | |
| 20:36962869 | P>R | A:410 | (73.36, 42.34, 27.82) | |
| 20:36962889 | V>L | A:417 | (82.38, 36.66, 29.36) | |
| 20:36962892 | N>D | A:418 | (83.67, 39.65, 26.59) | |
| 20:36962893 | N>S | A:418 | (83.67, 39.65, 26.59) | |
| 20:36962895 | rs546115728 | E>K | A:419 | (87.14, 40.76, 31.49) |
| 20:36964002 | rs5743542 | K>E | A:420 | (89.11, 35.48, 30.23) |
| 20:36964014 | G>S | A:424 | (93.02, 35.45, 26.66) | |
| 20:36964015 | rs372601443 | G>V | A:424 | (93.02, 35.45, 26.66) |
| 20:36964027 | rs368496977 COSM3405068 |
P>L | A:428 | (102.33, 28.75, 20.49) |
| 20:36964030 | rs148829027 | T>M | A:429 | (105.31, 31.80, 21.32) |
| 20:36964032 | rs143433981 | P>S | A:430 | (108.99, 31.15, 21.27) |
| 20:36964033 | rs141071658 | P>L | A:430 | (108.99, 31.15, 21.27) |
| 20:36964051 | Y>C | A:436 | (105.20, 41.65, 12.73) | |
| 20:36964056 | rs200632000 | V>I | A:438 | (98.13, 39.36, 12.00) |
| 20:36964057 | V>A | A:438 | (98.13, 39.36, 12.00) | |
| 20:36964060 | V>E | A:439 | (96.26, 37.13, 8.87) | |
| 20:36964071 | H>D | A:443 | (89.60, 28.25, 6.73) | |
| 20:36964075 | Q>R | A:444 | (85.27, 23.93, 7.29) | |
| 20:36965551 | rs199545210 | F>I | A:446 | (90.90, 25.37, 10.05) |
| 20:36965563 | rs112384214 | G>S | A:450 | (99.09, 34.77, 10.35) |
| 20:36965566 | A>T | A:451 | (102.43, 35.99, 11.06) | |
| 20:36965569 | rs5743549 | D>H | A:452 | (105.28, 38.52, 10.32) |
| 20:36965570 | D>A | A:452 | (105.28, 38.52, 10.32) | |
| 20:36965572 | V>I | A:453 | (108.24, 37.00, 13.80) | |
| 20:36965578 | Y>H | A:455 | (115.15, 37.18, 18.27) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 20:36937364 | COSM4406294 | S>F | A:66 | (122.74, 33.10, 4.97) |
| 20:36938904 | COSM1736747 | G>D | A:102 | (156.26, 42.82, 13.57) |
| 20:36940314 | COSM4986062 | A>V | A:165 | (147.70, 24.40, 9.42) |
| 20:36940320 | COSM186601 | R>Q | A:167 | (143.65, 26.24, 5.01) |
| 20:36946848 | COSM149171 | E>K | A:185 | (122.57, 28.00, 21.97) |
| 20:36952351 | COSM186606 | R>H | A:252 | (102.45, 36.97, 6.50) |
| 20:36954718 | COSM4593073 | T>P | A:322 | (75.78, 22.44, 28.36) |
| 20:36954722 | COSM1411683 | P>L | A:323 | (79.31, 22.21, 27.17) |