General Structure Information
| PDB ID | 3sn5 |
| HGNC Gene Label(s) | CYP7A1 |
| Structure Name | crystal structure of human cyp7a1 in complex with cholest-4-en-3-one |
| Resolution | 2.75Å |
| Reference | AUTH N.STRUSHKEVICH,W.TEMPEL,F.MACKENZIE,A.K.WERNIMONT,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN CYP7A1 IN COMPLEX WITHTITL 2 CHOLEST-4-EN-3-ONEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 466 |
| Number Of SNVs | 127 |
| Number Of Permutations | 51706 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.008 |
| p-value | 0.975 |
COSMIC
| Number Of Residues | 466 |
| Number Of SNVs | 12 |
| Number Of Permutations | 3658 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.606 |
| p-value | 0.369 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 127 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 29.0 |
| K Statistic | 0.18 |
| p-value | 0.629 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 8:59412578 | rs200846540 | R>M | B:27 | (-10.44, 31.15, -61.35) |
| 8:59411027 | Q>K | B:28 | (-5.62, 30.24, -63.41) | |
| 8:59411023 | T>M | B:29 | (-6.03, 26.16, -63.58) | |
| 8:59411021 | G>S | B:30 | (-7.52, 25.03, -60.17) | |
| 8:59411015 | P>T | B:32 | (-9.28, 29.02, -56.06) | |
| 8:59411001 | rs138113674 | N>K | B:36 | (-10.19, 40.70, -57.11) |
| 8:59410991 | P>S | B:40 | (-8.10, 49.72, -55.29) | |
| 8:59410963 | rs180916341 | G>D | B:49 | (-14.59, 44.17, -41.74) |
| 8:59410964 | COSM1100722 | G>S | B:49 | (-14.59, 44.17, -41.74) |
| 8:59410952 | rs189424028 | L>F | B:53 | (-18.54, 35.32, -39.32) |
| 8:59410947 | rs148278254 | E>D | B:54 | (-21.98, 36.74, -41.96) |
| 8:59410949 | E>Q | B:54 | (-21.98, 36.74, -41.96) | |
| 8:59410936 | A>V | B:58 | (-21.36, 34.67, -48.12) | |
| 8:59410931 | Q>K | B:60 | (-19.24, 29.13, -47.05) | |
| 8:59410922 | H>N | B:63 | (-17.60, 31.21, -54.18) | |
| 8:59410916 | H>Y | B:65 | (-16.30, 24.70, -47.87) | |
| 8:59410891 | G>V | B:73 | (-2.60, 42.88, -51.62) | |
| 8:59410885 | rs377254635 | Y>C | B:75 | (-4.02, 38.21, -53.96) |
| 8:59410879 | H>L | B:77 | (-5.99, 31.14, -50.87) | |
| 8:59410877 | F>I | B:78 | (-10.30, 32.46, -46.58) | |
| 8:59410855 | rs545869846 | Y>C | B:85 | (-9.60, 23.56, -40.45) |
| 8:59410853 | rs62621283 | H>N | B:86 | (-6.22, 17.64, -42.20) |
| 8:59410835 | G>R | B:92 | (5.03, 21.73, -44.82) | |
| 8:59410822 | D>A | B:96 | (6.53, 30.40, -44.20) | |
| 8:59410810 | rs200836103 | F>C | B:100 | (2.20, 37.86, -41.78) |
| 8:59410811 | F>I | B:100 | (2.20, 37.86, -41.78) | |
| 8:59410796 | S>A | B:105 | (6.25, 42.35, -34.60) | |
| 8:59410788 | rs535484729 | K>N | B:107 | (5.42, 47.03, -37.89) |
| 8:59410789 | K>T | B:107 | (5.42, 47.03, -37.89) | |
| 8:59409736 | COSM1100720 | R>K | B:112 | (16.49, 46.10, -36.42) |
| 8:59409733 | S>N | B:113 | (14.13, 41.73, -38.40) | |
| 8:59409730 | I>T | B:114 | (12.95, 38.84, -35.31) | |
| 8:59409724 | P>L | B:116 | (17.22, 34.70, -38.69) | |
| 8:59409721 | rs372015675 | M>T | B:117 | (17.61, 35.65, -42.82) |
| 8:59409667 | G>D | B:135 | (8.08, 22.64, -17.01) | |
| 8:59409658 | L>S | B:138 | (5.16, 26.32, -16.42) | |
| 8:59409634 | M>T | B:146 | (-1.38, 31.75, -7.05) | |
| 8:59409626 | L>I | B:149 | (-3.27, 36.82, -8.44) | |
| 8:59409564 | E>D | B:169 | (-15.43, 47.50, -10.56) | |
| 8:59409560 | M>L | B:171 | (-16.37, 42.23, -14.78) | |
| 8:59409541 | COSM1457632 | R>Q | B:177 | (-7.67, 46.19, -11.19) |
| 8:59409539 | V>M | B:178 | (-6.11, 41.76, -11.40) | |
| 8:59409527 | A>S | B:182 | (0.01, 39.76, -12.15) | |
| 8:59409512 | I>V | B:187 | (6.53, 37.81, -17.14) | |
| 8:59409503 | R>G | B:190 | (8.38, 40.79, -7.50) | |
| 8:59409499 | D>G | B:191 | (11.18, 47.22, -8.46) | |
| 8:59409497 | L>I | B:192 | (13.78, 45.72, -4.99) | |
| 8:59409493 | rs72647413 | T>I | B:193 | (14.40, 49.78, -5.68) |
| 8:59409490 | rs374585203 | R>K | B:194 | (10.71, 51.39, -5.44) |
| 8:59409487 | rs201046553 | R>Q | B:195 | (8.16, 50.28, -3.22) |
| 8:59409488 | COSM2719734 | R>W | B:195 | (8.16, 50.28, -3.22) |
| 8:59409469 | H>R | B:201 | (6.01, 53.16, -11.68) | |
| 8:59409470 | H>Y | B:201 | (6.01, 53.16, -11.68) | |
| 8:59409452 | rs568918027 | D>H | B:207 | (-2.98, 54.04, -19.05) |
| 8:59409437 | COSM3766786 | F>I | B:212 | (0.19, 49.77, -27.97) |
| 8:59409433 | D>G | B:213 | (-4.17, 47.26, -27.20) | |
| 8:59409379 | COSM1457630 | A>V | B:231 | (-0.11, 55.47, -28.56) |
| 8:59409380 | A>S | B:231 | (-0.11, 55.47, -28.56) | |
| 8:59409377 | H>Y | B:232 | (4.39, 56.92, -30.55) | |
| 8:59409373 | rs8192874 | N>S | B:233 | (3.76, 58.93, -26.27) |
| 8:59409367 | rs141299456 | R>Q | B:235 | (5.39, 52.04, -28.96) |
| 8:59409356 | rs192455108 | A>T | B:239 | (9.87, 50.47, -23.66) |
| 8:59409337 | E>A | B:245 | (18.59, 48.64, -16.73) | |
| 8:59409328 | rs376522590 | Q>L | B:248 | (19.32, 44.13, -14.70) |
| 8:59409322 | rs150039957 | R>M | B:250 | (11.96, 44.22, -11.67) |
| 8:59409314 | rs530012264 | I>V | B:253 | (12.84, 37.97, -13.58) |
| 8:59409289 | M>T | B:261 | (17.60, 39.85, -20.89) | |
| 8:59409265 | rs565488904 | T>I | B:269 | (23.16, 43.41, -33.22) |
| 8:59409253 | COSM3834864 | L>P | B:273 | (14.70, 51.09, -27.48) |
| 8:59409245 | A>P | B:276 | (12.75, 46.78, -24.98) | |
| 8:59409214 | COSM606104 | S>L | B:286 | (1.01, 38.02, -21.93) |
| 8:59409200 | I>V | B:291 | (-7.34, 40.63, -20.20) | |
| 8:59409193 | A>V | B:293 | (-10.33, 35.38, -21.42) | |
| 8:59409187 | F>S | B:295 | (-15.15, 39.55, -19.25) | |
| 8:59409183 | rs535428616 COSM3716071 |
W>C | B:296 | (-16.38, 37.16, -22.45) |
| 8:59409182 | S>C | B:297 | (-14.55, 33.06, -17.95) | |
| 8:59409169 | M>T | B:301 | (-18.86, 31.58, -13.54) | |
| 8:59409163 | rs142476981 | R>K | B:303 | (-24.62, 34.80, -16.50) |
| 8:59407190 | P>L | B:305 | (-26.69, 29.84, -12.13) | |
| 8:59407187 | E>A | B:306 | (-25.99, 24.99, -14.08) | |
| 8:59407167 | rs140288234 | E>K | B:313 | (-18.57, 21.57, -5.01) |
| 8:59407161 | rs147153175 | V>M | B:315 | (-12.83, 25.26, -5.95) |
| 8:59407133 | Q>R | B:324 | (-4.74, 24.65, 0.75) | |
| 8:59407121 | L>S | B:328 | (-8.06, 37.66, 4.35) | |
| 8:59407109 | rs201041588 | P>L | B:332 | (-0.47, 31.92, 0.98) |
| 8:59407099 | rs374601769 | L>F | B:335 | (-2.72, 24.86, -6.15) |
| 8:59407074 | P>T | B:344 | (-12.95, 19.41, -15.14) | |
| 8:59407066 | COSM1489354 | L>F | B:346 | (-12.82, 25.64, -14.15) |
| 8:59407065 | rs8192875 | D>N | B:347 | (-10.85, 23.25, -18.30) |
| 8:59405079 | I>V | B:350 | (-11.92, 28.46, -19.82) | |
| 8:59405069 | COSM3699121 | S>L | B:353 | (-15.59, 31.26, -22.92) |
| 8:59405055 | S>G | B:358 | (-12.23, 33.09, -30.90) | |
| 8:59405036 | rs539485428 | R>Q | B:364 | (-0.68, 28.92, -43.09) |
| 8:59405037 | rs149291486 | R>W | B:364 | (-0.68, 28.92, -43.09) |
| 8:59405027 | rs138607943 | K>M | B:367 | (8.01, 28.41, -49.02) |
| 8:59405020 | rs369328699 | D>E | B:369 | (3.47, 27.64, -57.49) |
| 8:59405001 | D>N | B:376 | (-13.52, 20.16, -50.85) | |
| 8:59404998 | rs117423932 | G>S | B:377 | (-10.09, 19.36, -53.52) |
| 8:59404985 | I>S | B:381 | (-1.74, 27.89, -54.28) | |
| 8:59404982 | COSM280280 | R>Q | B:382 | (-0.63, 32.38, -57.94) |
| 8:59404971 | I>F | B:386 | (-1.92, 34.13, -47.58) | |
| 8:59404967 | I>T | B:387 | (-2.90, 29.46, -46.81) | |
| 8:59404968 | I>V | B:387 | (-2.90, 29.46, -46.81) | |
| 8:59404965 | A>T | B:388 | (-6.45, 30.92, -44.19) | |
| 8:59404959 | Y>H | B:390 | (-12.28, 33.61, -38.93) | |
| 8:59404945 | M>I | B:394 | (-15.08, 25.36, -36.01) | |
| 8:59404912 | L>F | B:405 | (-24.85, 31.58, -30.44) | |
| 8:59404913 | rs372341079 | L>W | B:405 | (-24.85, 31.58, -30.44) |
| 8:59404332 | T>I | B:406 | (-25.78, 28.88, -26.19) | |
| 8:59404321 | D>H | B:410 | (-21.76, 20.88, -19.82) | |
| 8:59404303 | rs546561123 | N>D | B:416 | (-19.03, 10.41, -16.19) |
| 8:59404300 | rs201787113 | G>R | B:417 | (-17.43, 14.75, -15.70) |
| 8:59404293 | T>K | B:419 | (-12.55, 16.23, -20.46) | |
| 8:59404284 | T>I | B:422 | (-15.48, 13.11, -28.81) | |
| 8:59404267 | L>F | B:428 | (-16.76, 12.76, -38.72) | |
| 8:59404264 | rs376754937 | K>Q | B:429 | (-13.91, 12.56, -36.39) |
| 8:59404256 | rs370236722 | K>N | B:431 | (-8.83, 16.66, -35.02) |
| 8:59404249 | Y>H | B:434 | (-10.57, 24.61, -28.25) | |
| 8:59404245 | rs201341987 | M>T | B:435 | (-8.21, 26.27, -33.19) |
| 8:59404240 | F>L | B:437 | (-4.67, 28.78, -27.39) | |
| 8:59404233 | S>L | B:439 | (-2.84, 24.41, -34.13) | |
| 8:59404230 | rs367898327 COSM3735320 |
G>E | B:440 | (0.64, 23.36, -34.64) |
| 8:59404215 | P>L | B:445 | (3.69, 29.21, -26.61) | |
| 8:59404206 | L>W | B:448 | (0.01, 25.20, -20.74) | |
| 8:59404191 | E>G | B:453 | (-3.26, 32.93, -16.02) | |
| 8:59404192 | COSM2719710 | E>K | B:453 | (-3.26, 32.93, -16.02) |
| 8:59404175 | L>F | B:458 | (-11.81, 31.60, -11.77) | |
| 8:59404166 | M>I | B:461 | (-12.86, 35.76, -7.64) | |
| 8:59404140 | I>T | B:470 | (-26.38, 44.44, -11.64) | |
| 8:59404128 | A>V | B:474 | (-27.77, 42.65, -18.91) | |
| 8:59404109 | D>E | B:480 | (-14.69, 44.62, -30.33) | |
| 8:59404108 | rs148119788 | Q>E | B:481 | (-15.91, 42.01, -34.59) |
| 8:59404102 | rs143725488 | R>W | B:483 | (-8.78, 43.47, -31.11) |
| 8:59404098 | A>V | B:484 | (-10.41, 40.56, -35.87) | |
| 8:59404090 | G>S | B:487 | (-8.15, 36.85, -31.09) | |
| 8:59404071 | N>S | B:493 | (-19.34, 47.09, -23.34) | |
| 8:59404065 | I>T | B:495 | (-20.66, 44.32, -17.38) | |
| 8:59404055 | K>N | B:498 | (-20.48, 42.97, -7.12) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 8:59410927 | COSM4531838 | R>K | B:61 | (-23.92, 31.47, -48.42) |
| 8:59410903 | COSM291331 | C>Y | B:69 | (-9.74, 37.07, -51.01) |
| 8:59410828 | COSM1624101 | Y>C | B:94 | (5.25, 23.21, -51.02) |
| 8:59410816 | COSM4989418 | K>R | B:98 | (7.25, 33.25, -39.65) |
| 8:59410817 | COSM2719740 | K>E | B:98 | (7.25, 33.25, -39.65) |
| 8:59409695 | COSM1624100 | N>H | B:126 | (9.87, 28.34, -31.06) |
| 8:59409688 | COSM3663814 | T>I | B:128 | (13.08, 30.91, -26.30) |
| 8:59409488 | COSM2719734 | R>W | B:195 | (8.16, 50.28, -3.22) |
| 8:59409434 | COSM1100716 | D>N | B:213 | (-4.17, 47.26, -27.20) |
| 8:59409409 | COSM1132722 | A>E | B:221 | (-3.30, 47.47, -41.27) |
| 8:59409214 | COSM606104 | S>L | B:286 | (1.01, 38.02, -21.93) |
| 8:59404982 | COSM280280 | R>Q | B:382 | (-0.63, 32.38, -57.94) |
| 8:59404254 | COSM1624098 | Y>C | B:432 | (-7.17, 19.92, -35.88) |