General Structure Information
| PDB ID | 3fuk |
| HGNC Gene Label(s) | LTA4H |
| Structure Name | leukotriene a4 hydrolase in complex with 1-[2-(1h-indol-5- yloxy)ethyl]piperidine-4-carboxylic acid |
| Resolution | 1.95Å |
| Reference | AUTH D.R.DAVIES,B.MAMAT,O.T.MAGNUSSON,J.CHRISTENSEN,AUTH 2 M.H.HARALDSSON,R.MISHRA,B.PEASE,E.HANSEN,J.SINGH,AUTH 3 D.ZEMBOWER,H.KIM,A.S.KISELYOV,A.B.BURGIN,AUTH 4 M.E.GURNEY,L.J.STEWARTTITL DISCOVERY OF LEUKOTRIENE A4 HYDROLASE INHIBITORSTITL 2 USING METABOLOMICS BIASED FRAGMENT CRYSTALLOGRAPHY.REF J.MED.CHEM. V. 52 4694 2009REFN ISSN 0022-2623PMID 19618939DOI 10.1021/JM900259H |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 608 |
| Number Of SNVs | 132 |
| Number Of Permutations | 38620 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.028 |
| p-value | 0.295 |
COSMIC
| Number Of Residues | 608 |
| Number Of SNVs | 3 |
| Number Of Permutations | 67 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.667 |
| p-value | 0.57 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:96429287 | rs79510571 | I>T | A:3 | (-20.95, 12.99, 9.76) |
| 12:96429282 | D>H | A:5 | (-22.29, 11.14, 2.61) | |
| 12:96429276 | C>R | A:7 | (-21.72, 8.42, -1.17) | |
| 12:96429258 | A>P | A:13 | (-26.59, 19.74, 5.74) | |
| 12:96429225 | rs538837004 | R>G | A:24 | (-44.17, 19.76, -14.81) |
| 12:96429211 | D>E | A:28 | (-40.72, 9.21, -23.71) | |
| 12:96429201 | R>W | A:32 | (-36.13, 3.26, -22.86) | |
| 12:96429191 | T>S | A:35 | (-38.58, 15.14, -19.46) | |
| 12:96429189 | G>W | A:36 | (-38.26, 18.13, -16.69) | |
| 12:96429176 | L>H | A:40 | (-35.05, 22.02, -5.43) | |
| 12:96429171 | V>L | A:42 | (-32.88, 25.34, -0.77) | |
| 12:96429152 | N>S | A:48 | (-22.25, 34.96, 2.09) | |
| 12:96429146 | R>P | A:50 | (-22.18, 34.36, -2.88) | |
| 12:96422954 | rs373421916 | T>S | A:56 | (-25.82, 14.36, -11.16) |
| 12:96422946 | D>E | A:58 | (-26.22, 9.60, -16.60) | |
| 12:96422929 | V>A | A:64 | (-30.81, 26.54, -13.79) | |
| 12:96422920 | N>S | A:67 | (-35.43, 34.80, -9.16) | |
| 12:96422903 | rs77004192 | Y>H | A:73 | (-25.20, 24.93, -15.38) |
| 12:96422896 | L>R | A:75 | (-21.70, 19.28, -14.85) | |
| 12:96422869 | S>L | A:84 | (-21.66, 14.24, -12.04) | |
| 12:96422863 | rs140174999 | M>R | A:86 | (-24.93, 20.50, -10.64) |
| 12:96422864 | rs530290388 | M>V | A:86 | (-24.93, 20.50, -10.64) |
| 12:96422859 | E>D | A:87 | (-21.08, 24.40, -8.69) | |
| 12:96422843 | rs143721623 | A>T | A:93 | (-26.38, 36.05, -1.32) |
| 12:96422834 | K>E | A:96 | (-28.29, 31.03, 8.96) | |
| 12:96421332 | I>V | A:100 | (-34.14, 29.76, -2.63) | |
| 12:96421325 | I>T | A:102 | (-33.36, 26.00, -7.37) | |
| 12:96421313 | COSM46467 | F>S | A:106 | (-34.69, 16.89, -15.58) |
| 12:96421308 | T>S | A:108 | (-33.28, 10.85, -18.01) | |
| 12:96421304 | S>F | A:109 | (-30.47, 8.17, -19.50) | |
| 12:96421301 | P>L | A:110 | (-31.87, 5.66, -21.43) | |
| 12:96421262 | T>S | A:123 | (-45.24, -7.40, -19.55) | |
| 12:96421251 | E>Q | A:127 | (-51.24, -5.07, -24.99) | |
| 12:96421242 | rs45630737 | Y>H | A:130 | (-44.04, -1.59, -15.87) |
| 12:96421239 | rs149364918 | L>I | A:131 | (-41.14, 2.76, -15.61) |
| 12:96421232 | rs550798263 | S>N | A:133 | (-38.00, 3.07, -9.47) |
| 12:96418320 | rs181046425 | I>M | A:138 | (-26.60, 6.28, -4.52) |
| 12:96418311 | R>S | A:141 | (-27.13, 10.57, -7.49) | |
| 12:96418309 | A>V | A:142 | (-30.43, 9.01, -12.00) | |
| 12:96418294 | Q>R | A:147 | (-29.00, 17.42, -1.25) | |
| 12:96418265 | rs576678224 | T>S | A:157 | (-45.07, 17.75, -4.89) |
| 12:96416019 | rs138750397 | P>R | A:163 | (-49.23, 7.30, -21.59) |
| 12:96415990 | I>V | A:173 | (-50.98, 10.38, -1.00) | |
| 12:96415986 | R>H | A:174 | (-53.25, 7.71, -4.66) | |
| 12:96415965 | P>L | A:181 | (-53.50, 20.14, -20.87) | |
| 12:96415966 | rs377060348 | P>S | A:181 | (-53.50, 20.14, -20.87) |
| 12:96415942 | Y>H | A:189 | (-51.77, 10.02, -13.11) | |
| 12:96415938 | K>R | A:190 | (-51.86, 15.51, -9.07) | |
| 12:96414911 | P>R | A:196 | (-40.48, 14.58, 6.00) | |
| 12:96414912 | P>S | A:196 | (-40.48, 14.58, 6.00) | |
| 12:96414909 | I>V | A:197 | (-38.69, 11.72, 2.55) | |
| 12:96412674 | S>C | A:239 | (-52.61, -7.81, 10.96) | |
| 12:96412672 | M>V | A:240 | (-48.67, -7.57, 9.78) | |
| 12:96412668 | L>R | A:241 | (-50.14, -2.38, 9.72) | |
| 12:96412663 | rs147242667 | I>V | A:243 | (-48.72, -5.94, 15.42) |
| 12:96412641 | P>L | A:250 | (-48.10, 6.18, 15.51) | |
| 12:96412629 | G>V | A:254 | (-51.75, 6.70, 5.84) | |
| 12:96412623 | Y>C | A:256 | (-48.70, -0.45, 3.53) | |
| 12:96412599 | rs528598350 | S>Y | A:264 | (-37.02, -7.59, -12.83) |
| 12:96412600 | COSM4045531 COSM4045532 |
S>P | A:264 | (-37.02, -7.59, -12.83) |
| 12:96412595 | F>L | A:265 | (-37.97, -5.35, -7.82) | |
| 12:96412594 | P>S | A:266 | (-34.16, -5.94, -7.72) | |
| 12:96412591 | Y>D | A:267 | (-33.59, -5.39, -4.14) | |
| 12:96412580 | M>I | A:270 | (-38.24, -0.63, -1.14) | |
| 12:96412578 | E>A | A:271 | (-38.67, 0.80, 2.37) | |
| 12:96412554 | T>S | A:279 | (-41.07, -9.82, -5.45) | |
| 12:96412551 | P>L | A:280 | (-43.18, -11.46, -8.04) | |
| 12:96412549 | T>A | A:281 | (-40.83, -14.14, -5.90) | |
| 12:96411358 | A>S | A:284 | (-46.50, -19.05, -2.91) | |
| 12:96411352 | D>N | A:286 | (-48.70, -20.36, 1.27) | |
| 12:96410832 | D>N | A:312 | (-21.26, 4.08, 6.75) | |
| 12:96409455 | T>S | A:321 | (-36.49, -3.61, 10.29) | |
| 12:96409440 | COSM4045529 COSM4045530 |
R>H | A:326 | (-37.13, -11.87, 12.90) |
| 12:96409441 | rs201124482 | R>C | A:326 | (-37.13, -11.87, 12.90) |
| 12:96409438 | rs200021597 | H>N | A:327 | (-41.00, -9.00, 17.91) |
| 12:96409429 | rs138184255 | G>R | A:330 | (-44.49, -13.83, 16.78) |
| 12:96409425 | R>Q | A:331 | (-47.61, -10.33, 18.61) | |
| 12:96409421 | L>F | A:332 | (-49.02, -13.51, 13.85) | |
| 12:96409422 | rs375869173 | L>S | A:332 | (-49.02, -13.51, 13.85) |
| 12:96409381 | W>R | A:346 | (-25.73, -16.66, 13.99) | |
| 12:96408741 | L>V | A:365 | (-22.35, -3.62, 11.89) | |
| 12:96408732 | D>Y | A:368 | (-15.55, 3.04, 5.10) | |
| 12:96408713 | rs374610737 | P>H | A:374 | (-23.19, 1.03, -2.22) |
| 12:96408705 | A>S | A:377 | (-21.51, -3.82, -0.20) | |
| 12:96408695 | S>L | A:380 | (-26.94, -10.26, 4.94) | |
| 12:96408686 | Y>C | A:383 | (-30.43, -6.87, 6.39) | |
| 12:96408687 | Y>H | A:383 | (-30.43, -6.87, 6.39) | |
| 12:96408657 | L>V | A:393 | (-28.75, -5.96, 23.61) | |
| 12:96408651 | Q>K | A:395 | (-31.16, -12.38, 25.46) | |
| 12:96408635 | rs372000339 | P>Q | A:400 | (-38.77, -9.17, 25.02) |
| 12:96407615 | F>L | A:406 | (-34.70, 1.05, 23.14) | |
| 12:96407608 | COSM1364999 | A>S | A:409 | (-38.34, 5.36, 22.53) |
| 12:96407595 | rs143080064 | K>T | A:413 | (-35.29, 10.83, 20.67) |
| 12:96407587 | Y>H | A:416 | (-40.35, 12.95, 11.75) | |
| 12:96407578 | I>V | A:419 | (-29.33, 8.59, 13.36) | |
| 12:96407572 | rs199968715 | T>A | A:421 | (-24.03, 4.15, 15.52) |
| 12:96407567 | D>E | A:422 | (-22.34, 7.25, 18.11) | |
| 12:96407559 | K>R | A:425 | (-23.74, 3.54, 22.17) | |
| 12:96407536 | K>E | A:433 | (-29.92, 5.49, 33.58) | |
| 12:96407023 | COSM696280 COSM1646567 |
N>S | A:440 | (-20.10, -1.10, 30.26) |
| 12:96407024 | N>H | A:440 | (-20.10, -1.10, 30.26) | |
| 12:96407006 | A>P | A:446 | (-16.48, -6.05, 18.11) | |
| 12:96406993 | S>C | A:450 | (-15.00, -6.09, 14.05) | |
| 12:96406987 | rs371247528 | G>E | A:452 | (-17.14, -11.31, 11.51) |
| 12:96406971 | K>N | A:457 | (-24.65, -17.51, 19.36) | |
| 12:96402925 | Y>N | A:460 | (-30.74, -18.53, 19.09) | |
| 12:96402906 | N>S | A:466 | (-34.51, -29.85, 16.67) | |
| 12:96402895 | rs182608358 | A>T | A:470 | (-32.24, -34.37, 12.03) |
| 12:96402885 | Q>R | A:473 | (-26.97, -34.48, 10.16) | |
| 12:96402880 | W>R | A:475 | (-30.61, -37.31, 3.04) | |
| 12:96402873 | T>S | A:477 | (-24.51, -39.33, 7.84) | |
| 12:96400186 | A>V | A:478 | (-25.69, -41.23, 4.49) | |
| 12:96400187 | A>T | A:478 | (-25.69, -41.23, 4.49) | |
| 12:96400179 | rs45630739 | E>D | A:480 | (-25.38, -46.65, -1.56) |
| 12:96400167 | N>K | A:484 | (-34.23, -47.64, 1.05) | |
| 12:96400161 | F>L | A:486 | (-34.01, -41.31, 3.30) | |
| 12:96400159 | N>S | A:487 | (-40.07, -41.82, 2.73) | |
| 12:96400156 | A>D | A:488 | (-42.27, -38.77, 1.86) | |
| 12:96400135 | S>Y | A:495 | (-43.19, -26.40, 7.66) | |
| 12:96400115 | F>I | A:502 | (-33.65, -30.19, 4.98) | |
| 12:96400102 | COSM944729 | T>K | A:506 | (-28.14, -29.58, 3.49) |
| 12:96400096 | Q>R | A:508 | (-24.42, -24.73, 5.63) | |
| 12:96397694 | P>R | A:511 | (-20.78, -30.92, -1.93) | |
| 12:96397670 | rs372873763 | R>Q | A:519 | (-33.81, -41.69, -2.98) |
| 12:96397666 | rs199862341 | M>I | A:520 | (-33.43, -35.60, -1.99) |
| 12:96397646 | N>S | A:527 | (-38.05, -30.59, -9.08) | |
| 12:96397622 | R>Q | A:535 | (-37.17, -24.28, -7.46) | |
| 12:96396834 | R>Q | A:540 | (-27.13, -22.53, -4.38) | |
| 12:96396792 | rs368572493 | A>V | A:554 | (-31.15, -22.90, -12.83) |
| 12:96396783 | M>T | A:557 | (-35.01, -19.39, -10.93) | |
| 12:96396777 | T>S | A:559 | (-33.54, -15.86, -16.42) | |
| 12:96396758 | K>N | A:565 | (-32.03, -13.74, -2.31) | |
| 12:96394867 | D>G | A:578 | (-17.66, -28.13, -15.43) | |
| 12:96394858 | COSM3793054 | H>R | A:581 | (-18.63, -21.37, -17.28) |
| 12:96394852 | Q>L | A:583 | (-25.11, -22.95, -20.67) | |
| 12:96394849 | A>G | A:584 | (-23.91, -18.94, -17.90) | |
| 12:96394850 | A>T | A:584 | (-23.91, -18.94, -17.90) | |
| 12:96394843 | rs145220113 | R>Q | A:586 | (-25.39, -18.51, -23.92) |
| 12:96394802 | A>T | A:600 | (-26.26, -6.40, -14.83) | |
| 12:96394792 | rs140220052 | V>A | A:603 | (-24.19, -10.75, -12.70) |
| 12:96394793 | rs199864596 | V>L | A:603 | (-24.19, -10.75, -12.70) |
| 12:96394789 | G>E | A:604 | (-20.71, -9.46, -14.26) | |
| 12:96394782 | D>E | A:606 | (-20.52, -12.00, -9.82) | |
| 12:96394783 | D>V | A:606 | (-20.52, -12.00, -9.82) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:96421313 | COSM46467 | F>S | A:106 | (-34.69, 16.89, -15.58) |
| 12:96421314 | COSM3359981 | F>L | A:106 | (-34.69, 16.89, -15.58) |
| 12:96412987 | COSM1644225 | E>Q | A:223 | (-49.85, -6.35, -14.73) |
| 12:96396750 | COSM1677259 | R>Q | A:568 | (-25.56, -11.78, -7.35) |