General Structure Information
| PDB ID | 3d59 |
| HGNC Gene Label(s) | PLA2G7 |
| Structure Name | crystal structure of human plasma platelet activating factor acetylhydrolase |
| Resolution | 1.5Å |
| Reference | AUTH U.SAMANTA,B.J.BAHNSONTITL CRYSTAL STRUCTURE OF HUMAN PLASMATITL 2 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE:TITL 3 STRUCTURAL IMPLICATION TO LIPOPROTEIN BINDING ANDTITL 4 CATALYSIS.REF J.BIOL.CHEM. V. 283 31617 2008REFN ISSN 0021-9258PMID 18784071DOI 10.1074/JBC.M804750200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 372 |
| Number Of SNVs | 129 |
| Number Of Permutations | 14117 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.204 |
| p-value | 0.037 |
COSMIC
| Number Of Residues | 372 |
| Number Of SNVs | 8 |
| Number Of Permutations | 3218 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.107 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 129 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | -0.055 |
| p-value | 0.781 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 6:46684774 | rs369097718 COSM139647 |
P>S | A:57 | (14.58, 50.04, 22.72) |
| 6:46684770 | rs201369933 | R>Q | A:58 | (14.61, 55.42, 23.79) |
| 6:46684764 | rs139110249 | N>I | A:60 | (11.43, 54.36, 16.39) |
| 6:46684759 | rs139188438 | P>S | A:62 | (5.86, 60.06, 16.51) |
| 6:46684749 | rs539941099 | V>A | A:65 | (5.18, 56.11, 25.45) |
| 6:46684725 | rs143930998 | D>G | A:73 | (-12.06, 40.97, 38.39) |
| 6:46684720 | T>A | A:75 | (-10.42, 37.56, 40.43) | |
| 6:46684262 | T>A | A:79 | (-8.20, 41.04, 33.14) | |
| 6:46684255 | L>S | A:81 | (-3.56, 44.68, 31.24) | |
| 6:46684252 | rs144983904 | R>H | A:82 | (2.29, 46.69, 31.81) |
| 6:46684246 | rs368234407 | Y>C | A:84 | (2.85, 49.26, 26.81) |
| 6:46684247 | rs199793731 | Y>H | A:84 | (2.85, 49.26, 26.81) |
| 6:46684244 | Y>D | A:85 | (-0.29, 55.04, 27.34) | |
| 6:46684231 | D>G | A:89 | (2.99, 64.87, 28.29) | |
| 6:46684222 | rs1805017 | R>H | A:92 | (10.42, 61.83, 34.91) |
| 6:46684223 | rs189781341 | R>C | A:92 | (10.42, 61.83, 34.91) |
| 6:46684219 | rs200298077 | L>P | A:93 | (11.75, 57.36, 30.39) |
| 6:46684213 | T>N | A:95 | (8.53, 52.19, 33.65) | |
| 6:46684211 | COSM1312276 | L>I | A:96 | (9.99, 49.09, 37.16) |
| 6:46684208 | W>G | A:97 | (12.19, 44.67, 32.54) | |
| 6:46684194 | K>N | A:101 | (9.82, 39.86, 45.37) | |
| 6:46684192 | E>G | A:102 | (7.37, 37.73, 43.81) | |
| 6:46684184 | W>G | A:105 | (11.03, 34.79, 44.53) | |
| 6:46684180 | G>V | A:106 | (9.96, 32.40, 38.74) | |
| 6:46684181 | G>S | A:106 | (9.96, 32.40, 38.74) | |
| 6:46684175 | rs200052639 | S>C | A:108 | (14.51, 30.63, 38.98) |
| 6:46684168 | rs143012249 | F>S | A:110 | (11.15, 28.79, 33.10) |
| 6:46684169 | rs150329930 | F>L | A:110 | (11.15, 28.79, 33.10) |
| 6:46684166 | COSM1079926 | L>F | A:111 | (15.66, 28.94, 34.39) |
| 6:46684151 | rs191270134 | L>F | A:116 | (20.59, 31.04, 44.06) |
| 6:46684146 | M>I | A:117 | (19.47, 33.02, 39.62) | |
| 6:46684147 | M>R | A:117 | (19.47, 33.02, 39.62) | |
| 6:46684127 | L>I | A:124 | (21.58, 42.20, 37.79) | |
| 6:46682283 | M>I | A:128 | (16.17, 47.60, 34.56) | |
| 6:46682276 | P>S | A:131 | (11.44, 53.17, 27.56) | |
| 6:46682273 | rs145638062 | A>S | A:132 | (7.97, 54.66, 29.69) |
| 6:46682250 | R>S | A:139 | (-2.57, 62.04, 21.80) | |
| 6:46682251 | R>M | A:139 | (-2.57, 62.04, 21.80) | |
| 6:46682233 | rs370831021 | P>L | A:145 | (-5.20, 51.65, 17.05) |
| 6:46682234 | P>S | A:145 | (-5.20, 51.65, 17.05) | |
| 6:46682227 | V>A | A:147 | (-2.56, 45.50, 20.15) | |
| 6:46682224 | rs201022799 COSM1312275 |
V>A | A:148 | (-4.06, 42.13, 22.40) |
| 6:46682216 | COSM3627981 | H>D | A:151 | (2.82, 35.73, 27.94) |
| 6:46682213 | G>C | A:152 | (5.27, 33.28, 26.75) | |
| 6:46682207 | G>R | A:154 | (7.81, 32.23, 31.34) | |
| 6:46682204 | rs149037413 | A>T | A:155 | (6.63, 35.00, 30.78) |
| 6:46680070 | rs183702131 | L>I | A:159 | (9.15, 40.50, 29.55) |
| 6:46680060 | A>V | A:162 | (10.12, 46.75, 22.85) | |
| 6:46680058 | I>L | A:163 | (7.14, 44.98, 20.84) | |
| 6:46680039 | S>F | A:169 | (5.41, 55.27, 19.12) | |
| 6:46680033 | rs548182444 | G>E | A:171 | (-0.51, 54.93, 17.79) |
| 6:46680024 | V>A | A:174 | (-0.51, 47.88, 23.65) | |
| 6:46680019 | COSM334717 | A>T | A:176 | (-0.16, 43.16, 27.82) |
| 6:46680009 | H>R | A:179 | (-1.81, 34.73, 30.08) | |
| 6:46679353 | D>E | A:181 | (-2.17, 29.50, 31.97) | |
| 6:46679351 | rs146433848 | R>I | A:182 | (0.29, 27.14, 36.73) |
| 6:46679352 | R>G | A:182 | (0.29, 27.14, 36.73) | |
| 6:46679348 | S>F | A:183 | (2.24, 30.07, 31.42) | |
| 6:46679337 | rs200283994 | T>P | A:187 | (0.71, 35.83, 38.27) |
| 6:46679331 | Y>H | A:189 | (-4.94, 35.82, 42.71) | |
| 6:46679323 | rs45454695 | K>N | A:191 | (-7.83, 35.36, 47.82) |
| 6:46679321 | rs201110141 | D>G | A:192 | (-10.76, 39.63, 48.83) |
| 6:46679312 | A>V | A:195 | (-6.84, 42.29, 49.35) | |
| 6:46679310 | A>S | A:196 | (-6.88, 44.76, 46.82) | |
| 6:46679303 | rs1805018 | I>T | A:198 | (-4.34, 45.71, 51.85) |
| 6:46679301 | G>R | A:199 | (-1.92, 44.44, 48.59) | |
| 6:46679283 | rs150039037 | Y>H | A:205 | (4.61, 31.07, 41.44) |
| 6:46679273 | rs377019028 | T>N | A:208 | (5.98, 21.81, 35.82) |
| 6:46679274 | T>S | A:208 | (5.98, 21.81, 35.82) | |
| 6:46679262 | rs139384606 | E>K | A:212 | (1.62, 11.58, 30.81) |
| 6:46679243 | rs201567357 COSM1079924 |
R>Q | A:218 | (1.07, 23.15, 27.29) |
| 6:46679238 | rs200979587 | E>K | A:220 | (-7.19, 23.01, 28.02) |
| 6:46678391 | rs140695465 | R>Q | A:223 | (-8.96, 25.82, 23.92) |
| 6:46678392 | rs200057649 COSM2157343 |
R>W | A:223 | (-8.96, 25.82, 23.92) |
| 6:46678376 | E>V | A:228 | (-7.04, 35.21, 29.38) | |
| 6:46678373 | rs200338780 | C>Y | A:229 | (-7.17, 37.73, 24.80) |
| 6:46678374 | C>R | A:229 | (-7.17, 37.73, 24.80) | |
| 6:46678370 | rs201934571 | S>Y | A:230 | (-11.25, 37.90, 24.35) |
| 6:46678343 | I>T | A:239 | (-13.32, 51.05, 29.58) | |
| 6:46678340 | D>G | A:240 | (-14.31, 52.94, 24.69) | |
| 6:46678338 | H>Y | A:241 | (-18.36, 52.48, 24.45) | |
| 6:46678335 | G>R | A:242 | (-18.18, 53.64, 30.05) | |
| 6:46678329 | P>A | A:244 | (-17.96, 51.62, 35.38) | |
| 6:46678316 | A>E | A:248 | (-7.31, 46.52, 41.64) | |
| 6:46678312 | L>F | A:249 | (-3.92, 47.88, 40.68) | |
| 6:46678314 | L>I | A:249 | (-3.92, 47.88, 40.68) | |
| 6:46678311 | rs371046823 | D>N | A:250 | (-3.85, 52.55, 43.81) |
| 6:46678299 | COSM3777715 | D>H | A:254 | (-8.41, 58.16, 35.23) |
| 6:46678288 | Q>H | A:257 | (-7.72, 58.92, 30.50) | |
| 6:46677151 | COSM3830679 | S>F | A:261 | (-9.81, 55.73, 23.06) |
| 6:46677146 | D>N | A:263 | (-10.53, 52.50, 16.05) | |
| 6:46677142 | rs200062469 COSM1079922 |
R>M | A:264 | (-14.88, 49.69, 19.21) |
| 6:46677130 | rs200752820 | A>V | A:268 | (-4.93, 43.16, 16.86) |
| 6:46677128 | V>L | A:269 | (-3.70, 39.42, 18.04) | |
| 6:46677119 | rs201187668 COSM3874544 |
H>Y | A:272 | (7.08, 35.05, 21.61) |
| 6:46677109 | G>D | A:275 | (1.47, 33.48, 21.78) | |
| 6:46677110 | COSM3627977 | G>S | A:275 | (1.47, 33.48, 21.78) |
| 6:46677104 | A>T | A:277 | (-0.66, 30.02, 19.43) | |
| 6:46677100 | rs147252565 | T>M | A:278 | (-2.60, 32.55, 21.64) |
| 6:46677098 | rs76863441 | V>F | A:279 | (-2.68, 34.65, 17.71) |
| 6:46677093 | I>M | A:280 | (-3.72, 31.01, 15.70) | |
| 6:46677091 | rs201256712 CM973406 |
Q>R | A:281 | (-7.24, 29.36, 19.54) |
| 6:46677085 | rs200303358 CM114499 |
L>P | A:283 | (-7.84, 34.93, 15.09) |
| 6:46675897 | C>S | A:291 | (-5.19, 40.82, 12.40) | |
| 6:46675887 | A>V | A:294 | (3.07, 35.34, 14.90) | |
| 6:46675880 | D>E | A:296 | (9.00, 32.35, 16.73) | |
| 6:46675871 | M>I | A:299 | (2.04, 25.76, 16.24) | |
| 6:46675863 | rs370455958 | L>P | A:302 | (-2.79, 24.61, 18.15) |
| 6:46675860 | rs200128572 | G>D | A:303 | (-5.69, 21.98, 17.24) |
| 6:46675861 | rs137868817 | G>C | A:303 | (-5.69, 21.98, 17.24) |
| 6:46675855 | rs201635666 | E>K | A:305 | (-9.65, 22.40, 15.65) |
| 6:46675828 | L>F | A:314 | (-1.74, 35.13, 9.92) | |
| 6:46675818 | rs201842579 CM044029 |
I>N | A:317 | (7.58, 37.34, 12.30) |
| 6:46675815 | N>S | A:318 | (9.82, 33.16, 12.07) | |
| 6:46675806 | Y>C | A:321 | (19.66, 30.66, 14.27) | |
| 6:46675785 | rs200787788 | I>N | A:328 | (7.20, 25.25, 9.76) |
| 6:46675778 | rs199551268 | K>N | A:330 | (1.31, 22.38, 12.04) |
| 6:46675776 | rs201533861 | M>R | A:331 | (3.20, 27.75, 10.40) |
| 6:46675766 | rs200567003 | C>W | A:334 | (-2.67, 28.12, 7.84) |
| 6:46675759 | rs199662586 | P>S | A:337 | (-5.96, 30.23, -1.81) |
| 6:46675746 | R>T | A:341 | (-2.50, 33.29, 5.78) | |
| 6:46673024 | Q>R | A:352 | (14.65, 35.20, 23.69) | |
| 6:46673021 | rs201171111 | N>S | A:353 | (15.86, 38.44, 19.27) |
| 6:46673012 | rs202073418 | D>G | A:356 | (12.66, 42.78, 26.72) |
| 6:46673013 | rs200015160 | D>Y | A:356 | (12.66, 42.78, 26.72) |
| 6:46673002 | rs200974898 | F>L | A:359 | (17.40, 44.60, 24.40) |
| 6:46672970 | K>T | A:370 | (20.75, 30.69, 23.78) | |
| 6:46672968 | L>I | A:371 | (19.50, 36.20, 25.46) | |
| 6:46672943 | rs1051931 | V>A | A:379 | (18.58, 45.36, 13.70) |
| 6:46672935 | D>Y | A:382 | (13.86, 47.83, 14.26) | |
| 6:46672931 | L>P | A:383 | (13.36, 44.21, 10.81) | |
| 6:46672927 | rs138627259 | S>R | A:384 | (9.55, 42.88, 13.70) |
| 6:46672926 | rs371623990 | N>D | A:385 | (8.57, 46.40, 15.21) |
| 6:46672919 | A>V | A:387 | (6.69, 44.55, 9.43) | |
| 6:46672917 | rs201840347 | S>A | A:388 | (4.32, 44.58, 12.11) |
| 6:46672913 | rs34159425 | L>S | A:389 | (3.82, 48.87, 11.78) |
| 6:46672895 | H>R | A:395 | (-4.45, 43.53, 6.60) | |
| 6:46672891 | L>F | A:396 | (-6.24, 47.36, 10.65) | |
| 6:46672427 | rs142693692 | H>R | A:399 | (-5.52, 56.29, 6.94) |
| 6:46672403 | C>S | A:407 | (9.42, 45.50, 1.68) | |
| 6:46672394 | rs137883169 | E>G | A:410 | (7.12, 40.41, 0.54) |
| 6:46672381 | rs145290218 | E>D | A:414 | (20.63, 42.91, 4.41) |
| 6:46672382 | E>G | A:414 | (20.63, 42.91, 4.41) | |
| 6:46672371 | rs368877374 COSM1496387 |
P>S | A:418 | (11.76, 35.13, 2.03) |
| 6:46672350 | rs200979188 | T>A | A:425 | (5.57, 20.30, 2.32) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 6:46684222 | COSM451580 | R>H | A:92 | (10.42, 61.83, 34.91) |
| 6:46684166 | COSM1079926 | L>I | A:111 | (15.66, 28.94, 34.39) |
| 6:46682255 | COSM1754850 | L>V | A:138 | (-4.21, 59.16, 26.96) |
| 6:46679303 | COSM4415263 | I>T | A:198 | (-4.34, 45.71, 51.85) |
| 6:46679243 | COSM1079924 | R>Q | A:218 | (1.07, 23.15, 27.29) |
| 6:46678359 | COSM97015 | LS>QS | A:234 | (-14.11, 43.01, 26.32) |
| 6:46678321 | COSM276788 | K>N | A:246 | (-12.07, 50.46, 41.23) |
| 6:46678293 | COSM3627979 | E>K | A:256 | (-12.89, 57.96, 33.48) |