General Structure Information
| PDB ID | 2clp |
| HGNC Gene Label(s) | AKR7A3 |
| Structure Name | crystal structure of human aflatoxin b1 aldehyde reductase member 3 |
| Resolution | 3.0Å |
| Reference | AUTH J.E.DEBRECZENI,C.JOHANSSON,K.KAVANAGH,A.TURNBULL,AUTH 2 E.PAPAGRIGORIOU,F.VON DELFT,A.EDWARDS,C.ARROWSMITH,AUTH 3 J.WEIGELT,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN AFLATOXIN B1 ALDEHYDE REDUCTASETITL 2 MEMBER 3REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 322 |
| Number Of SNVs | 108 |
| Number Of Permutations | 43048 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.111 |
| p-value | 0.694 |
COSMIC
| Number Of Residues | 322 |
| Number Of SNVs | 3 |
| Number Of Permutations | 157 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.333 |
| p-value | 0.41 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 108 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.291 |
| p-value | 0.722 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:19615137 | rs570847426 | M>V | I:52 | (-51.21, -53.09, 30.84) |
| 1:19615131 | A>S | I:54 | (-51.28, -59.83, 32.72) | |
| 1:19615122 | rs552561219 | S>G | I:57 | (-50.03, -57.53, 28.62) |
| 1:19615119 | A>T | I:58 | (-50.75, -60.86, 26.63) | |
| 1:19615094 | E>G | I:66 | (-49.79, -60.68, 14.54) | |
| 1:19615089 | rs367822788 | G>S | I:68 | (-44.65, -59.30, 12.44) |
| 1:19615084 | H>Q | I:69 | (-44.01, -56.20, 14.24) | |
| 1:19615086 | H>Y | I:69 | (-44.01, -56.20, 14.24) | |
| 1:19615082 | T>S | I:70 | (-39.59, -59.14, 16.49) | |
| 1:19615075 | I>M | I:72 | (-40.05, -56.80, 23.34) | |
| 1:19615076 | I>T | I:72 | (-40.05, -56.80, 23.34) | |
| 1:19615070 | T>M | I:74 | (-37.97, -54.22, 29.21) | |
| 1:19615062 | rs199504000 COSM1601453 |
V>L | I:77 | (-37.03, -50.25, 36.80) |
| 1:19615054 | S>R | I:79 | (-43.20, -52.25, 37.11) | |
| 1:19615050 | rs527784943 | G>S | I:81 | (-40.54, -56.01, 37.80) |
| 1:19615041 | rs145878095 | E>K | I:84 | (-38.52, -58.11, 33.41) |
| 1:19615029 | G>S | I:88 | (-41.66, -64.62, 31.23) | |
| 1:19615026 | rs142091873 | G>C | I:89 | (-44.89, -65.85, 31.37) |
| 1:19615019 | rs562470505 | G>E | I:91 | (-43.99, -68.69, 26.64) |
| 1:19615016 | L>H | I:92 | (-42.31, -66.25, 24.36) | |
| 1:19615013 | R>Q | I:93 | (-38.79, -69.25, 24.83) | |
| 1:19615014 | rs140103131 | R>W | I:93 | (-38.79, -69.25, 24.83) |
| 1:19615011 | L>M | I:94 | (-37.45, -65.53, 25.81) | |
| 1:19615005 | G>S | I:96 | (-33.47, -69.07, 22.25) | |
| 1:19615002 | S>C | I:97 | (-32.50, -70.89, 19.15) | |
| 1:19614990 | V>L | I:101 | (-39.12, -62.97, 20.29) | |
| 1:19612859 | I>M | I:103 | (-35.76, -59.41, 24.82) | |
| 1:19612857 | D>V | I:104 | (-34.69, -55.50, 24.53) | |
| 1:19612833 | G>A | I:112 | (-28.97, -48.40, 44.81) | |
| 1:19612806 | COSM3360558 | R>Q | I:121 | (-23.08, -60.10, 37.42) |
| 1:19612807 | rs201340875 | R>W | I:121 | (-23.08, -60.10, 37.42) |
| 1:19612800 | rs371433840 | Q>R | I:123 | (-29.34, -54.79, 37.56) |
| 1:19612791 | T>M | I:126 | (-32.77, -60.36, 38.19) | |
| 1:19612779 | rs369669956 | R>Q | I:130 | (-37.43, -60.46, 36.78) |
| 1:19612780 | R>W | I:130 | (-37.43, -60.46, 36.78) | |
| 1:19612771 | rs149303529 | C>R | I:133 | (-33.77, -66.33, 29.98) |
| 1:19612768 | P>T | I:134 | (-30.59, -67.76, 28.90) | |
| 1:19612764 | COSM531386 | R>Q | I:135 | (-28.89, -65.24, 24.89) |
| 1:19612759 | rs373658016 | D>Y | I:137 | (-31.46, -60.50, 22.29) |
| 1:19612750 | Y>H | I:140 | (-30.39, -50.91, 26.10) | |
| 1:19612746 | L>P | I:141 | (-25.98, -48.95, 29.80) | |
| 1:19612743 | H>P | I:142 | (-31.91, -46.96, 31.44) | |
| 1:19612733 | D>E | I:145 | (-22.89, -43.95, 36.90) | |
| 1:19612722 | rs138344238 | P>L | I:149 | (-15.62, -45.01, 36.22) |
| 1:19612717 | rs138337504 | E>K | I:151 | (-12.54, -47.94, 31.85) |
| 1:19612710 | T>I | I:153 | (-19.14, -50.36, 33.21) | |
| 1:19612704 | R>H | I:155 | (-13.18, -53.87, 32.52) | |
| 1:19612693 | Q>E | I:159 | (-17.00, -60.41, 31.83) | |
| 1:19612683 | Q>R | I:162 | (-16.92, -63.24, 27.13) | |
| 1:19612485 | G>A | I:164 | (-23.85, -65.10, 27.46) | |
| 1:19612477 | rs2231198 | V>M | I:167 | (-26.13, -60.57, 21.88) |
| 1:19612471 | rs541750969 | L>F | I:169 | (-24.03, -53.18, 24.39) |
| 1:19612455 | Y>C | I:174 | (-25.01, -42.58, 27.98) | |
| 1:19612447 | W>R | I:177 | (-19.54, -36.20, 25.81) | |
| 1:19612435 | rs141306786 | E>K | I:181 | (-15.50, -41.89, 26.03) |
| 1:19612415 | rs375015996 | K>N | I:187 | (-12.06, -50.12, 19.39) |
| 1:19612417 | K>E | I:187 | (-12.06, -50.12, 19.39) | |
| 1:19612411 | N>Y | I:189 | (-9.75, -51.96, 25.58) | |
| 1:19612408 | rs138381490 | G>S | I:190 | (-11.71, -55.25, 22.95) |
| 1:19612395 | P>H | I:194 | (-21.88, -50.04, 21.50) | |
| 1:19612396 | rs143014551 | P>S | I:194 | (-21.88, -50.04, 21.50) |
| 1:19612386 | Y>C | I:197 | (-28.80, -44.00, 21.78) | |
| 1:19612383 | Q>R | I:198 | (-33.24, -46.38, 23.77) | |
| 1:19611604 | M>R | I:200 | (-35.94, -38.22, 23.92) | |
| 1:19611601 | rs562136119 | Y>F | I:201 | (-36.73, -38.39, 17.34) |
| 1:19611598 | rs530380486 | N>S | I:202 | (-40.74, -36.34, 19.27) |
| 1:19611592 | rs372178245 | I>T | I:204 | (-41.59, -31.83, 19.11) |
| 1:19611587 | rs572255201 | R>W | I:206 | (-36.94, -32.28, 15.65) |
| 1:19611574 | COSM901485 | T>M | I:210 | (-27.56, -31.62, 16.04) |
| 1:19611566 | rs370254066 | F>L | I:213 | (-29.09, -39.14, 14.74) |
| 1:19611563 | P>A | I:214 | (-24.13, -37.44, 13.39) | |
| 1:19611559 | rs375692590 | C>Y | I:215 | (-22.11, -40.08, 16.28) |
| 1:19611553 | R>K | I:217 | (-25.92, -42.99, 11.52) | |
| 1:19611551 | H>Y | I:218 | (-18.31, -42.26, 12.69) | |
| 1:19611544 | G>A | I:220 | (-22.87, -47.81, 13.89) | |
| 1:19611532 | Y>C | I:224 | (-33.97, -48.96, 18.67) | |
| 1:19611530 | A>T | I:225 | (-37.45, -44.28, 19.46) | |
| 1:19611277 | G>R | I:232 | (-49.48, -38.44, 24.50) | |
| 1:19611267 | rs201215326 | T>I | I:235 | (-52.67, -37.81, 21.12) |
| 1:19611265 | G>S | I:236 | (-54.54, -34.37, 21.55) | |
| 1:19611262 | K>E | I:237 | (-55.53, -37.02, 25.12) | |
| 1:19611241 | rs1738023 | N>D | I:244 | (-55.16, -25.68, 36.53) |
| 1:19611225 | V>A | I:249 | (-55.62, -40.27, 34.78) | |
| 1:19611226 | V>M | I:249 | (-55.62, -40.27, 34.78) | |
| 1:19611219 | rs368463814 | R>P | I:251 | (-47.25, -41.10, 30.88) |
| 1:19611220 | rs372165967 | R>C | I:251 | (-47.25, -41.10, 30.88) |
| 1:19611199 | A>T | I:258 | (-46.17, -36.97, 36.55) | |
| 1:19611193 | M>L | I:260 | (-40.70, -36.25, 34.74) | |
| 1:19611190 | COSM901483 | Y>H | I:261 | (-43.12, -37.72, 31.34) |
| 1:19611180 | COSM1337471 | R>H | I:264 | (-39.82, -34.77, 29.56) |
| 1:19611181 | COSM227674 | R>C | I:264 | (-39.82, -34.77, 29.56) |
| 1:19610609 | rs370516171 | E>K | I:268 | (-47.51, -23.55, 26.16) |
| 1:19610599 | F>Y | I:271 | (-50.56, -27.76, 24.48) | |
| 1:19610584 | L>R | I:276 | (-49.85, -25.23, 13.87) | |
| 1:19610581 | V>A | I:277 | (-50.58, -29.86, 13.31) | |
| 1:19610578 | E>V | I:278 | (-54.93, -30.07, 15.34) | |
| 1:19610567 | Q>K | I:282 | (-58.24, -29.80, 8.55) | |
| 1:19610560 | rs145872076 | A>V | I:284 | (-55.01, -30.81, 3.63) |
| 1:19610561 | rs373169386 | A>T | I:284 | (-55.01, -30.81, 3.63) |
| 1:19610558 | rs538211675 | Y>D | I:285 | (-55.35, -34.77, 4.66) |
| 1:19610552 | COSM117760 | A>T | I:287 | (-63.05, -34.89, 6.50) |
| 1:19610549 | S>G | I:288 | (-60.34, -37.28, 5.64) | |
| 1:19610543 | P>T | I:290 | (-55.86, -37.90, 9.99) | |
| 1:19610539 | S>N | I:291 | (-55.52, -39.01, 13.95) | |
| 1:19610536 | M>T | I:292 | (-52.27, -35.68, 15.76) | |
| 1:19610534 | T>P | I:293 | (-52.11, -40.30, 17.04) | |
| 1:19610525 | T>A | I:296 | (-47.23, -38.05, 15.31) | |
| 1:19610518 | R>Q | I:298 | (-48.50, -40.94, 9.00) | |
| 1:19610519 | COSM3764135 | R>W | I:298 | (-48.50, -40.94, 9.00) |
| 1:19610512 | M>T | I:300 | (-41.02, -41.02, 13.62) | |
| 1:19609333 | rs528051281 | E>D | I:325 | (-54.43, -50.95, 17.41) |
| 1:19609295 | rs145104812 | P>L | I:338 | (-46.14, -31.60, 2.02) |
| 1:19609287 | rs148859866 | V>M | I:341 | (-44.17, -32.03, 7.19) |
| 1:19609284 | D>N | I:342 | (-44.06, -27.76, 6.38) | |
| 1:19609281 | A>T | I:343 | (-46.37, -27.79, 10.49) | |
| 1:19609269 | A>S | I:347 | (-43.88, -26.67, 15.91) | |
| 1:19609262 | rs147831859 | H>R | I:349 | (-38.75, -24.26, 14.26) |
| 1:19609260 | L>V | I:350 | (-42.87, -22.77, 18.56) | |
| 1:19609254 | rs1738025 | T>A | I:352 | (-36.57, -25.59, 20.48) |
| 1:19609229 | rs368739749 | R>H | I:360 | (-29.24, -37.91, 32.20) |
| 1:19609230 | R>C | I:360 | (-29.24, -37.91, 32.20) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:19615062 | COSM1601453 | V>L | I:77 | (-37.03, -50.25, 36.80) |
| 1:19610560 | COSM1733745 | A>V | I:284 | (-55.01, -30.81, 3.63) |
| 1:19610546 | COSM4660930 | A>T | I:289 | (-58.65, -36.26, 8.60) |