General Structure Information
| PDB ID | 2uxw |
| HGNC Gene Label(s) | ACADVL |
| Structure Name | crystal structure of human very long chain acyl-coa dehydrogenase (acadvl) |
| Resolution | 1.45Å |
| Reference | AUTH A.C.W.PIKE,V.HOZJAN,C.SMEE,G.BERRIDGE,N.BURGESS,E.SALAH,AUTH 2 G.BUNKOCZI,J.UPPENBERG,E.UGOCHUKWU,F.VON DELFT,AUTH 3 C.H.ARROWSMITH,A.EDWARDS,J.WEIGELT,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN VERY LONG CHAIN ACYL- COATITL 2 DEHYDROGENASE (ACADVL)REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 564 |
| Number Of SNVs | 155 |
| Number Of Permutations | 81196 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.036 |
| p-value | 0.038 |
ClinVar
| Number Of Residues | 564 |
| Number Of SNVs | 31 |
| Number Of Permutations | 30203 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.234 |
| p-value | 0.003 |
COSMIC
| Number Of Residues | 564 |
| Number Of SNVs | 6 |
| Number Of Permutations | 4636 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | 0.2 |
| p-value | 0.346 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 155 |
| Number Of ClinVar SNVs | 32 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.111 |
| p-value | 0.001 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 155 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | -0.345 |
| p-value | 0.149 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 17:7123944 | rs370156298 | G>R | A:76 | (12.48, 4.10, 15.62) |
| 17:7123945 | G>E | A:76 | (12.48, 4.10, 15.62) | |
| 17:7123953 | K>E | A:79 | (9.94, 1.56, 13.30) | |
| 17:7123956 | G>R | A:80 | (11.35, -1.07, 17.45) | |
| 17:7123968 | T>A | A:84 | (21.81, 4.99, 18.59) | |
| 17:7123971 | D>H | A:85 | (23.50, 7.05, 15.25) | |
| 17:7123989 | rs398123087 | P>S | A:91 | (26.63, 14.92, 21.64) |
| 17:7123995 | V>M | A:93 | (29.89, 19.80, 18.53) | |
| 17:7124093 | rs139427392 | E>K | A:96 | (39.02, 24.41, 20.97) |
| 17:7124105 | Q>E | A:100 | (38.02, 30.35, 24.63) | |
| 17:7124108 | F>L | A:101 | (34.07, 33.26, 20.63) | |
| 17:7124115 | rs140566084 | K>R | A:103 | (34.77, 30.05, 27.76) |
| 17:7124132 | V>M | A:109 | (26.03, 37.95, 28.49) | |
| 17:7124136 | S>Y | A:110 | (26.28, 37.09, 32.48) | |
| 17:7124138 | rs370929055 | R>C | A:111 | (29.46, 41.75, 33.98) |
| 17:7124147 | rs557260142 | E>K | A:114 | (24.53, 39.72, 36.65) |
| 17:7124243 | rs370146676 rs387906249 CD961740 |
E>Q | A:115 | (25.82, 44.34, 36.33) |
| 17:7124252 | rs543878973 | D>H | A:118 | (15.39, 45.19, 36.29) |
| 17:7124270 | rs560912181 | A>T | A:124 | (6.37, 47.23, 35.28) |
| 17:7124271 | A>V | A:124 | (6.37, 47.23, 35.28) | |
| 17:7124281 | M>I | A:127 | (8.72, 48.62, 27.94) | |
| 17:7124291 | T>P | A:131 | (19.81, 51.37, 28.83) | |
| 17:7124322 | A>V | A:141 | (21.90, 40.01, 20.88) | |
| 17:7124367 | rs139973845 | C>S | A:156 | (26.53, 27.34, 16.68) |
| 17:7124375 | Q>E | A:159 | (28.02, 28.56, 20.33) | |
| 17:7124376 | Q>R | A:159 | (28.02, 28.56, 20.33) | |
| 17:7124863 | R>C | A:162 | (25.69, 28.80, 27.86) | |
| 17:7124864 | R>H | A:162 | (25.69, 28.80, 27.86) | |
| 17:7124878 | rs199991742 | V>M | A:167 | (18.31, 35.08, 28.61) |
| 17:7124900 | rs372684079 | V>A | A:174 | (14.35, 39.95, 27.05) |
| 17:7124903 | G>D | A:175 | (13.71, 36.54, 25.18) | |
| 17:7124909 | T>I | A:177 | (12.21, 40.28, 22.24) | |
| 17:7124917 | A>T | A:180 | (11.13, 36.90, 17.79) | |
| 17:7124951 | rs530914800 | L>P | A:191 | (16.95, 28.64, 6.78) |
| 17:7124956 | G>R | A:193 | (18.02, 32.77, 1.37) | |
| 17:7124960 | T>R | A:194 | (18.90, 34.66, -1.68) | |
| 17:7124962 | rs199763196 | K>E | A:195 | (24.24, 36.37, -2.16) |
| 17:7124966 | rs201370388 | A>V | A:196 | (20.70, 39.03, -2.03) |
| 17:7124984 | rs398123090 | L>P | A:202 | (21.23, 39.50, 7.70) |
| 17:7124990 | K>R | A:204 | (20.34, 47.01, 8.93) | |
| 17:7124992 | L>V | A:205 | (18.37, 42.05, 11.14) | |
| 17:7125001 | G>R | A:208 | (19.03, 46.15, 15.56) | |
| 17:7125273 | E>K | A:209 | (19.26, 49.57, 12.29) | |
| 17:7125276 | T>P | A:210 | (16.21, 46.10, 11.53) | |
| 17:7125292 | C>S | A:215 | (3.77, 37.22, 10.49) | |
| 17:7125303 | P>T | A:219 | (-7.89, 36.28, 13.83) | |
| 17:7125309 | S>G | A:221 | (-5.71, 31.21, 12.11) | |
| 17:7125334 | R>Q | A:229 | (-9.01, 34.13, 6.35) | |
| 17:7125342 | A>T | A:232 | (-0.91, 37.63, -2.28) | |
| 17:7125345 | V>M | A:233 | (-2.31, 39.37, -5.68) | |
| 17:7125363 | K>E | A:239 | (7.07, 42.87, -10.07) | |
| 17:7125370 | rs575789958 | Y>C | A:241 | (3.30, 39.07, -5.30) |
| 17:7125373 | T>I | A:242 | (-0.89, 43.22, -3.54) | |
| 17:7125376 | L>H | A:243 | (0.02, 41.97, 1.28) | |
| 17:7125382 | G>E | A:245 | (-4.21, 41.79, 6.10) | |
| 17:7125395 | rs141167669 | W>C | A:249 | (-2.62, 37.09, 19.78) |
| 17:7125503 | G>S | A:254 | (5.61, 47.44, 17.00) | |
| 17:7125522 | rs113994168 | T>M | A:260 | (8.35, 36.81, 7.98) |
| 17:7125525 | V>A | A:261 | (4.54, 37.60, 5.83) | |
| 17:7125549 | D>V | A:269 | (0.83, 23.09, -12.22) | |
| 17:7125561 | rs150149784 | G>A | A:273 | (-1.63, 25.59, -15.04) |
| 17:7125563 | A>T | A:274 | (-3.44, 24.90, -12.66) | |
| 17:7125566 | V>M | A:275 | (-4.47, 28.11, -10.41) | |
| 17:7125567 | V>E | A:275 | (-4.47, 28.11, -10.41) | |
| 17:7125576 | K>M | A:278 | (-0.31, 26.86, -2.71) | |
| 17:7125590 | V>L | A:283 | (10.75, 39.63, 3.19) | |
| 17:7125591 | rs113994167 | V>A | A:283 | (10.75, 39.63, 3.19) |
| 17:7125596 | rs202216257 | E>Q | A:285 | (10.75, 46.55, 3.75) |
| 17:7125598 | rs201509063 | E>D | A:285 | (10.75, 46.55, 3.75) |
| 17:7125599 | R>G | A:286 | (6.84, 49.04, 9.24) | |
| 17:7125606 | F>C | A:288 | (7.83, 47.71, 1.11) | |
| 17:7125608 | rs200788251 CM034380 |
G>R | A:289 | (3.59, 50.33, 2.84) |
| 17:7125609 | G>E | A:289 | (3.59, 50.33, 2.84) | |
| 17:7125988 | rs200573371 CM960006 CD991559 |
G>E | A:294 | (-1.27, 47.98, 17.34) |
| 17:7126003 | K>M | A:299 | (0.60, 40.15, 28.25) | |
| 17:7126004 | K>N | A:299 | (0.60, 40.15, 28.25) | |
| 17:7126008 | rs199738655 | G>S | A:301 | (3.22, 37.95, 30.85) |
| 17:7126014 | rs369149696 | K>E | A:303 | (3.92, 42.24, 31.29) |
| 17:7126047 | G>R | A:314 | (-1.73, 47.42, 0.02) | |
| 17:7126053 | rs141756824 | R>W | A:316 | (5.12, 47.11, -4.45) |
| 17:7126054 | rs147366714 | R>Q | A:316 | (5.12, 47.11, -4.45) |
| 17:7126059 | P>S | A:318 | (8.93, 43.10, -4.00) | |
| 17:7126083 | V>I | A:326 | (5.88, 30.45, -5.07) | |
| 17:7126099 | K>T | A:331 | (7.64, 24.46, 4.49) | |
| 17:7126101 | V>I | A:332 | (9.07, 28.15, 5.22) | |
| 17:7126108 | rs398123079 | M>R | A:334 | (6.38, 24.54, 9.80) |
| 17:7126110 | H>Y | A:335 | (11.48, 23.70, 7.99) | |
| 17:7126112 | rs142447570 | H>Q | A:335 | (11.48, 23.70, 7.99) |
| 17:7126113 | rs146369181 | I>V | A:336 | (11.18, 28.86, 10.77) |
| 17:7126155 | G>S | A:350 | (17.65, 28.25, 33.02) | |
| 17:7126173 | rs150140386 | I>V | A:356 | (16.44, 25.03, 41.57) |
| 17:7126179 | rs146589640 | K>E | A:358 | (15.18, 31.43, 43.89) |
| 17:7126183 | rs539029862 | A>V | A:359 | (14.44, 26.81, 46.56) |
| 17:7126477 | rs149779522 | Q>P | A:368 | (9.02, 25.76, 60.61) |
| 17:7126496 | H>Q | A:374 | (17.23, 20.82, 54.52) | |
| 17:7126501 | F>S | A:376 | (11.32, 18.33, 57.09) | |
| 17:7126510 | I>T | A:379 | (11.02, 19.80, 50.97) | |
| 17:7126512 | Q>K | A:380 | (14.08, 15.79, 50.87) | |
| 17:7126521 | L>V | A:383 | (14.28, 20.00, 45.91) | |
| 17:7126522 | L>P | A:383 | (14.28, 20.00, 45.91) | |
| 17:7126527 | R>W | A:385 | (10.20, 14.61, 41.63) | |
| 17:7126528 | R>Q | A:385 | (10.20, 14.61, 41.63) | |
| 17:7126544 | Q>H | A:390 | (17.40, 21.19, 34.77) | |
| 17:7126548 | V>L | A:392 | (15.69, 16.00, 31.20) | |
| 17:7126551 | rs199840831 | T>A | A:393 | (15.17, 20.06, 29.82) |
| 17:7126975 | M>L | A:399 | (20.82, 15.71, 22.13) | |
| 17:7126977 | M>I | A:399 | (20.82, 15.71, 22.13) | |
| 17:7126993 | D>N | A:405 | (25.42, 21.75, 14.94) | |
| 17:7127016 | COSM88497 | Q>H | A:412 | (10.30, 16.78, 13.12) |
| 17:7127017 | rs201606472 | I>V | A:413 | (9.77, 13.92, 16.71) |
| 17:7127018 | I>T | A:413 | (9.77, 13.92, 16.71) | |
| 17:7127019 | rs143172658 | I>M | A:413 | (9.77, 13.92, 16.71) |
| 17:7127044 | G>S | A:422 | (10.09, 22.17, 29.15) | |
| 17:7127135 | rs138834083 | A>T | A:425 | (8.99, 21.54, 33.54) |
| 17:7127178 | rs533055438 CM101571 |
G>D | A:439 | (3.81, 32.91, 51.18) |
| 17:7127184 | rs2309689 | G>D | A:441 | (5.72, 33.16, 46.85) |
| 17:7127287 | E>K | A:445 | (9.67, 40.87, 46.17) | |
| 17:7127290 | P>A | A:446 | (10.28, 37.39, 45.69) | |
| 17:7127299 | rs398123081 COSM364409 |
E>Q | A:449 | (4.85, 36.32, 40.59) |
| 17:7127300 | E>G | A:449 | (4.85, 36.32, 40.59) | |
| 17:7127303 | rs118204016 | R>H | A:450 | (8.72, 37.95, 37.38) |
| 17:7127312 | rs138058572 | R>Q | A:453 | (3.34, 36.53, 35.77) |
| 17:7127329 | R>W | A:459 | (1.67, 25.08, 28.88) | |
| 17:7127330 | R>Q | A:459 | (1.67, 25.08, 28.88) | |
| 17:7127336 | F>S | A:461 | (4.46, 30.72, 22.61) | |
| 17:7127342 | rs200366828 CM990102 |
G>E | A:463 | (2.95, 25.30, 19.72) |
| 17:7127353 | I>V | A:467 | (-1.20, 20.41, 18.19) | |
| 17:7127359 | rs113994170 | R>W | A:469 | (1.40, 16.02, 23.60) |
| 17:7127365 | F>L | A:471 | (4.18, 16.33, 15.02) | |
| 17:7127366 | F>S | A:471 | (4.18, 16.33, 15.02) | |
| 17:7127372 | rs185215340 | A>V | A:473 | (2.17, 10.56, 17.31) |
| 17:7127388 | M>I | A:478 | (4.13, 8.44, 8.92) | |
| 17:7127472 | G>V | A:481 | (2.45, 2.42, 8.38) | |
| 17:7127480 | L>F | A:484 | (2.08, -2.15, 8.49) | |
| 17:7127487 | G>E | A:486 | (3.12, -3.09, 2.20) | |
| 17:7127498 | A>P | A:490 | (1.08, -7.40, -4.00) | |
| 17:7127499 | A>G | A:490 | (1.08, -7.40, -4.00) | |
| 17:7127659 | rs374507980 | G>S | A:518 | (17.70, -8.18, 20.65) |
| 17:7127662 | L>V | A:519 | (16.76, -4.70, 21.12) | |
| 17:7127686 | P>S | A:527 | (28.53, -0.32, 32.75) | |
| 17:7127687 | P>L | A:527 | (28.53, -0.32, 32.75) | |
| 17:7127691 | E>D | A:528 | (28.03, 2.26, 36.76) | |
| 17:7127696 | rs563667819 | S>N | A:530 | (22.86, -1.68, 32.98) |
| 17:7127698 | rs146379816 | R>W | A:531 | (18.97, -2.74, 36.64) |
| 17:7127699 | R>Q | A:531 | (18.97, -2.74, 36.64) | |
| 17:7127707 | rs2230180 | E>K | A:534 | (17.66, -3.66, 29.99) |
| 17:7127805 | rs192904909 | R>W | A:538 | (12.76, -4.45, 27.86) |
| 17:7127809 | A>G | A:539 | (9.87, 0.45, 27.13) | |
| 17:7127835 | E>K | A:548 | (2.36, -3.13, 15.24) | |
| 17:7127849 | COSM1244066 | I>M | A:552 | (-3.14, -3.23, 12.58) |
| 17:7127853 | H>Y | A:554 | (-7.51, 2.42, 14.62) | |
| 17:7127855 | H>Q | A:554 | (-7.51, 2.42, 14.62) | |
| 17:7127966 | rs370292684 | Q>E | A:562 | (-7.33, 13.26, 19.53) |
| 17:7127982 | rs398123084 | R>Q | A:567 | (-3.40, 8.59, 26.51) |
| 17:7127993 | rs398123085 | G>R | A:571 | (5.71, 7.86, 25.85) |
| 17:7128015 | rs375806217 | M>T | A:578 | (14.64, 7.03, 29.62) |
| 17:7128130 | rs374729641 | A>V | A:585 | (25.44, 9.87, 32.33) |
| 17:7128135 | R>G | A:587 | (29.52, 12.49, 27.98) | |
| 17:7128138 | S>P | A:588 | (30.00, 11.54, 32.95) | |
| 17:7128159 | T>A | A:595 | (28.99, 15.37, 38.39) | |
| 17:7128160 | T>M | A:595 | (28.99, 15.37, 38.39) | |
| 17:7128179 | rs201462718 | M>I | A:601 | (21.30, 9.18, 41.73) |
| 17:7128196 | rs200117742 | C>S | A:607 | (14.47, 5.65, 34.55) |
| 17:7128198 | I>F | A:608 | (12.71, 3.80, 38.32) | |
| 17:7128279 | A>T | A:611 | (9.22, 2.84, 33.19) | |
| 17:7128283 | rs374898424 | A>G | A:612 | (6.28, 2.94, 35.13) |
| 17:7128285 | rs118204014 | R>W | A:613 | (5.72, 7.48, 33.77) |
| 17:7128286 | rs534647044 | R>Q | A:613 | (5.72, 7.48, 33.77) |
| 17:7128292 | rs148584617 | R>Q | A:615 | (4.59, -0.56, 33.82) |
| 17:7128295 | E>G | A:616 | (1.06, 1.03, 34.03) | |
| 17:7128297 | G>S | A:617 | (0.13, 3.08, 29.68) | |
| 17:7128324 | W>R | A:626 | (-13.20, -1.32, 32.77) | |
| 17:7128330 | rs371091547 | Q>E | A:628 | (-12.48, 2.17, 24.96) |
| 17:7128342 | rs151254520 | R>C | A:632 | (-17.99, 5.03, 25.93) |
| 17:7128343 | R>H | A:632 | (-17.99, 5.03, 25.93) | |
| 17:7128350 | rs374068985 | F>L | A:634 | (-13.53, 11.22, 28.58) |
| 17:7128363 | K>Q | A:639 | (-22.14, 16.31, 24.30) | |
| 17:7128379 | R>Q | A:644 | (-26.51, 24.34, 30.33) | |
| 17:7128387 | V>M | A:647 | (-22.00, 22.78, 34.80) | |
| 17:7128394 | T>N | A:649 | (-24.90, 19.67, 37.75) | |
| 17:7128406 | L>P | A:653 | (-29.48, 22.66, 47.59) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 17:7124101 | rs794727695 | Q>H | A:98 | (33.67, 26.78, 18.51) |
| 17:7124327 | rs794727773 | G>S | A:143 | (22.98, 38.20, 15.95) |
| 17:7124861 | rs796051908 | A>V | A:161 | (22.13, 27.44, 23.80) |
| 17:7124899 | rs369560930 | V>M | A:174 | (14.35, 39.95, 27.05) |
| 17:7124914 | rs796051909 | G>W | A:179 | (13.47, 35.45, 19.46) |
| 17:7124917 | rs727503791 | A>T | A:180 | (11.13, 36.90, 17.79) |
| 17:7124932 | rs545215807 | G>S | A:185 | (11.81, 36.48, 12.18) |
| 17:7125285 | rs140629318 | A>T | A:213 | (8.58, 39.61, 12.84) |
| 17:7125312 | rs398123091 | G>R | A:222 | (-3.28, 29.11, 14.57) |
| 17:7125387 | rs387906253 | K>Q | A:247 | (-1.34, 38.62, 10.80) |
| 17:7125522 | rs113994168 | T>M | A:260 | (8.35, 36.81, 7.98) |
| 17:7125591 | rs113994167 | V>A | A:283 | (10.75, 39.63, 3.19) |
| 17:7125988 | rs200573371 | G>E | A:294 | (-1.27, 47.98, 17.34) |
| 17:7126051 | rs796051910 | V>G | A:315 | (1.49, 45.96, 0.83) |
| 17:7126108 | rs398123079 | M>R | A:334 | (6.38, 24.54, 9.80) |
| 17:7126159 | rs796051911 | T>N | A:351 | (14.35, 29.32, 34.06) |
| 17:7126470 | rs771874163 | R>C | A:366 | (11.75, 29.01, 57.30) |
| 17:7126471 | rs112406105 | R>H | A:366 | (11.75, 29.01, 57.30) |
| 17:7126480 | rs398123080 | F>S | A:369 | (7.48, 22.11, 62.65) |
| 17:7126518 | rs118204015 | K>Q | A:382 | (8.89, 19.24, 46.47) |
| 17:7127006 | rs113994169 | T>M | A:409 | (17.77, 15.83, 8.27) |
| 17:7127026 | rs118204018 | A>T | A:416 | (8.68, 18.64, 20.04) |
| 17:7127178 | rs533055438 | G>D | A:439 | (3.81, 32.91, 51.18) |
| 17:7127184 | rs2309689 | G>D | A:441 | (5.72, 33.16, 46.85) |
| 17:7127299 | rs398123081 | E>Q | A:449 | (4.85, 36.32, 40.59) |
| 17:7127303 | rs118204016 | R>H | A:450 | (8.72, 37.95, 37.38) |
| 17:7127326 | rs118204017 | F>L | A:458 | (6.98, 29.59, 27.09) |
| 17:7127329 | rs766742117 | R>W | A:459 | (1.67, 25.08, 28.88) |
| 17:7127330 | rs751995154 | R>Q | A:459 | (1.67, 25.08, 28.88) |
| 17:7127359 | rs113994170 | R>W | A:469 | (1.40, 16.02, 23.60) |
| 17:7127360 | rs398123083 | R>Q | A:469 | (1.40, 16.02, 23.60) |
| 17:7127707 | rs2230180 | E>K | A:534 | (17.66, -3.66, 29.99) |
| 17:7127982 | rs398123084 | R>Q | A:567 | (-3.40, 8.59, 26.51) |
| 17:7128285 | rs118204014 | R>W | A:613 | (5.72, 7.48, 33.77) |
| 17:7128292 | rs148584617 | R>Q | A:615 | (4.59, -0.56, 33.82) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 17:7124973 | COSM1750300 | K>N | A:198 | (21.49, 35.96, 3.19) |
| 17:7127302 | COSM983830 | R>C | A:450 | (8.72, 37.95, 37.38) |
| 17:7127320 | COSM437271 | R>C | A:456 | (0.42, 28.92, 30.81) |
| 17:7127351 | COSM1385932 | D>G | A:466 | (-2.19, 20.25, 22.96) |
| 17:7127490 | COSM1610703 | L>R | A:487 | (2.71, -6.06, 4.38) |
| 17:7128403 | COSM217142 | P>L | A:652 | (-26.52, 19.80, 46.20) |