General Structure Information
| PDB ID | 3czh |
| HGNC Gene Label(s) | CYP2R1 |
| Structure Name | crystal structure of cyp2r1 in complex with vitamin d2 |
| Resolution | 2.3Å |
| Reference | AUTH N.V.STRUSHKEVICH,W.TEMPEL,A.A.GILEP,P.LOPPNAU,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,M.WILKSTROM,AUTH 3 A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF CYP2R1 IN COMPLEX WITHTITL 2 VITAMIN D2.REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 464 |
| Number Of SNVs | 109 |
| Number Of Permutations | 45531 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.166 |
| p-value | 0.006 |
COSMIC
| Number Of Residues | 464 |
| Number Of SNVs | 6 |
| Number Of Permutations | 618 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.133 |
| p-value | 0.863 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 109 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | -0.188 |
| p-value | 0.615 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:14913640 | rs369169255 | G>S | A:38 | (-62.50, -21.69, -9.51) |
| 11:14913612 | P>Q | A:47 | (-41.31, -20.43, -5.37) | |
| 11:14913607 | I>V | A:49 | (-40.47, -16.58, -9.81) | |
| 11:14913600 | N>S | A:51 | (-45.13, -19.47, -14.37) | |
| 11:14913589 | L>V | A:55 | (-42.42, -18.01, -19.89) | |
| 11:14913583 | A>S | A:57 | (-36.93, -21.75, -19.71) | |
| 11:14913580 | S>A | A:58 | (-38.95, -21.93, -22.88) | |
| 11:14913565 | H>Y | A:63 | (-46.72, -16.92, -28.84) | |
| 11:14913556 | M>L | A:66 | (-49.27, -19.39, -23.62) | |
| 11:14907457 | S>R | A:78 | (-53.33, -20.10, -14.89) | |
| 11:14907454 | L>I | A:79 | (-49.82, -18.08, -15.82) | |
| 11:14907439 | I>L | A:84 | (-49.01, -10.95, -11.06) | |
| 11:14907417 | G>D | A:91 | (-58.97, -19.55, -28.81) | |
| 11:14907414 | Y>C | A:92 | (-63.16, -17.37, -32.18) | |
| 11:14907405 | V>A | A:95 | (-61.31, -14.87, -27.06) | |
| 11:14907399 | rs138945380 | E>G | A:97 | (-67.03, -16.97, -24.67) |
| 11:14907393 | rs61495246 | L>P | A:99 | (-63.16, -9.78, -25.61) |
| 11:14907387 | H>R | A:101 | (-70.20, -13.36, -25.54) | |
| 11:14907379 | rs61744571 | E>K | A:104 | (-68.55, -4.05, -20.73) |
| 11:14907366 | rs61744566 | D>G | A:108 | (-60.06, -2.88, -17.69) |
| 11:14907364 | R>G | A:109 | (-56.23, -2.46, -20.42) | |
| 11:14907337 | rs375085420 | M>V | A:118 | (-45.13, 4.98, -18.03) |
| 11:14907322 | G>R | A:123 | (-55.31, 7.91, -21.72) | |
| 11:14902310 | L>F | A:124 | (-56.50, 5.52, -25.33) | |
| 11:14902308 | L>P | A:125 | (-53.29, 1.74, -25.08) | |
| 11:14902305 | N>I | A:126 | (-52.93, 1.16, -20.86) | |
| 11:14902290 | R>Q | A:131 | (-65.76, 10.53, -18.19) | |
| 11:14902281 | V>A | A:134 | (-65.21, 7.05, -23.48) | |
| 11:14902279 | D>H | A:135 | (-63.68, 11.00, -23.23) | |
| 11:14902264 | rs181898397 | A>T | A:140 | (-59.65, 9.30, -31.88) |
| 11:14902261 | V>L | A:141 | (-62.67, 7.42, -33.66) | |
| 11:14902252 | F>L | A:144 | (-57.75, 8.78, -36.89) | |
| 11:14902239 | rs200978947 | G>V | A:148 | (-58.84, 11.54, -42.78) |
| 11:14902215 | rs140947977 | S>C | A:156 | (-53.71, 11.57, -52.21) |
| 11:14902205 | L>F | A:159 | (-50.51, 7.45, -53.10) | |
| 11:14902197 | T>N | A:162 | (-46.09, 5.63, -51.93) | |
| 11:14902185 | N>S | A:166 | (-41.13, 3.75, -54.10) | |
| 11:14902186 | N>H | A:166 | (-41.13, 3.75, -54.10) | |
| 11:14902177 | I>V | A:169 | (-36.56, 2.05, -52.59) | |
| 11:14902167 | Y>C | A:172 | (-30.38, 2.24, -51.44) | |
| 11:14902155 | P>R | A:176 | (-28.07, -4.62, -50.85) | |
| 11:14902139 | Q>H | A:181 | (-35.75, 3.83, -40.78) | |
| 11:14902140 | Q>R | A:181 | (-35.75, 3.83, -40.78) | |
| 11:14902131 | T>M | A:184 | (-40.80, 3.49, -39.93) | |
| 11:14902123 | V>L | A:187 | (-46.18, 4.24, -41.66) | |
| 11:14902100 | rs373959523 | I>M | A:194 | (-54.39, 12.45, -38.50) |
| 11:14902065 | rs535487358 | D>G | A:206 | (-34.52, 14.55, -34.20) |
| 11:14902021 | rs143448859 | A>T | A:221 | (-42.25, -4.93, -22.30) |
| 11:14902018 | A>T | A:222 | (-41.40, -8.50, -23.12) | |
| 11:14902002 | F>S | A:227 | (-43.11, -10.10, -17.23) | |
| 11:14901940 | R>G | A:248 | (-34.06, 6.68, -19.90) | |
| 11:14901918 | D>A | A:255 | (-39.56, 16.25, -23.68) | |
| 11:14901913 | L>F | A:257 | (-44.26, 13.54, -27.63) | |
| 11:14901906 | R>K | A:259 | (-40.91, 20.91, -27.63) | |
| 11:14901900 | I>T | A:261 | (-48.01, 18.56, -28.70) | |
| 11:14901876 | COSM122464 | K>R | A:269 | (-57.94, 28.26, -34.51) |
| 11:14901830 | M>I | A:284 | (-58.70, 20.95, -22.46) | |
| 11:14901831 | rs200183599 | M>T | A:284 | (-58.70, 20.95, -22.46) |
| 11:14901832 | M>V | A:284 | (-58.70, 20.95, -22.46) | |
| 11:14901822 | rs148817258 | G>V | A:287 | (-63.97, 21.54, -19.66) |
| 11:14901792 | rs527423165 | K>R | A:297 | (-51.29, 17.96, -20.93) |
| 11:14901772 | V>L | A:304 | (-50.14, 11.38, -29.09) | |
| 11:14901765 | rs140870202 | E>G | A:306 | (-50.80, 5.64, -26.71) |
| 11:14901732 | rs147626987 | N>S | A:317 | (-43.71, -4.99, -38.21) |
| 11:14901733 | N>D | A:317 | (-43.71, -4.99, -38.21) | |
| 11:14901723 | R>Q | A:320 | (-40.05, -5.56, -41.47) | |
| 11:14901724 | COSM925344 | R>W | A:320 | (-40.05, -5.56, -41.47) |
| 11:14901717 | A>V | A:322 | (-44.52, -9.25, -46.59) | |
| 11:14901708 | rs145224817 | F>S | A:325 | (-43.04, -14.58, -46.03) |
| 11:14901709 | F>L | A:325 | (-43.04, -14.58, -46.03) | |
| 11:14901693 | P>R | A:330 | (-40.95, -15.91, -55.81) | |
| 11:14901694 | rs558701830 | P>A | A:330 | (-40.95, -15.91, -55.81) |
| 11:14901691 | N>D | A:331 | (-44.04, -18.18, -57.50) | |
| 11:14900986 | rs139987598 | Q>R | A:335 | (-50.00, -14.49, -59.02) |
| 11:14900979 | Q>H | A:337 | (-46.18, -8.54, -59.37) | |
| 11:14900958 | M>I | A:344 | (-53.41, -1.14, -60.62) | |
| 11:14900959 | M>T | A:344 | (-53.41, -1.14, -60.62) | |
| 11:14900944 | K>T | A:349 | (-52.61, 4.65, -59.51) | |
| 11:14900928 | D>E | A:354 | (-58.41, -1.14, -57.14) | |
| 11:14900930 | D>N | A:354 | (-58.41, -1.14, -57.14) | |
| 11:14900914 | rs566519289 | P>L | A:359 | (-58.55, -11.22, -54.78) |
| 11:14900891 | E>Q | A:367 | (-51.94, -15.87, -44.46) | |
| 11:14900875 | rs199858102 | C>S | A:372 | (-46.83, -13.39, -38.79) |
| 11:14900870 | I>V | A:374 | (-47.66, -8.41, -35.83) | |
| 11:14900867 | rs529613253 | V>L | A:375 | (-50.19, -8.27, -31.91) |
| 11:14900864 | P>A | A:376 | (-49.00, -11.93, -30.36) | |
| 11:14900857 | G>V | A:378 | (-52.02, -8.31, -27.55) | |
| 11:14900848 | H>R | A:381 | (-57.53, -7.05, -21.83) | |
| 11:14900845 | A>E | A:382 | (-58.66, -6.75, -17.17) | |
| 11:14900843 | rs112229807 | T>A | A:383 | (-61.32, -8.20, -14.75) |
| 11:14900839 | S>C | A:384 | (-64.08, -4.70, -14.45) | |
| 11:14900824 | V>E | A:389 | (-65.61, -17.86, -17.63) | |
| 11:14900821 | R>H | A:390 | (-66.03, -22.10, -20.63) | |
| 11:14900822 | R>C | A:390 | (-66.03, -22.10, -20.63) | |
| 11:14900792 | V>L | A:400 | (-56.69, -11.14, -19.27) | |
| 11:14900785 | T>I | A:402 | (-55.65, -12.15, -25.56) | |
| 11:14900767 | H>R | A:408 | (-54.84, -16.28, -35.88) | |
| 11:14900768 | H>N | A:408 | (-54.84, -16.28, -35.88) | |
| 11:14900753 | rs148726480 | Y>N | A:413 | (-62.69, -22.22, -36.03) |
| 11:14900719 | rs199962113 COSM1492480 |
R>Q | A:424 | (-55.82, -20.58, -45.76) |
| 11:14900710 | rs201004240 | D>G | A:427 | (-64.13, -18.20, -53.07) |
| 11:14900699 | rs372849037 | Y>H | A:431 | (-64.10, -13.31, -56.03) |
| 11:14900692 | A>G | A:433 | (-62.92, -14.97, -47.78) | |
| 11:14900687 | K>E | A:435 | (-62.28, -16.35, -42.74) | |
| 11:14900683 | E>G | A:436 | (-64.21, -15.22, -38.00) | |
| 11:14900675 | rs370571333 | V>I | A:439 | (-58.67, -11.66, -34.54) |
| 11:14900666 | S>T | A:442 | (-58.97, -7.76, -31.34) | |
| 11:14900660 | rs560610153 | G>R | A:444 | (-64.34, -5.52, -28.68) |
| 11:14899841 | R>G | A:445 | (-66.71, -2.07, -26.10) | |
| 11:14899834 | H>R | A:447 | (-62.08, -2.53, -31.51) | |
| 11:14899835 | rs373226890 | H>D | A:447 | (-62.08, -2.53, -31.51) |
| 11:14899828 | L>R | A:449 | (-58.61, 3.09, -33.16) | |
| 11:14899823 | E>K | A:451 | (-59.01, -2.19, -38.57) | |
| 11:14899810 | R>Q | A:455 | (-57.37, -3.40, -43.27) | |
| 11:14899811 | rs146366698 | R>W | A:455 | (-57.37, -3.40, -43.27) |
| 11:14899807 | rs545401539 | M>T | A:456 | (-56.07, 2.31, -46.50) |
| 11:14899800 | M>I | A:458 | (-51.49, -2.96, -45.33) | |
| 11:14899801 | M>R | A:458 | (-51.49, -2.96, -45.33) | |
| 11:14899762 | L>S | A:471 | (-38.72, -7.64, -53.99) | |
| 11:14899739 | P>A | A:479 | (-33.51, -15.95, -44.60) | |
| 11:14899697 | P>A | A:493 | (-32.20, -7.88, -39.17) | |
| 11:14899685 | C>R | A:497 | (-32.80, -6.47, -53.66) | |
| 11:14899674 | R>S | A:500 | (-36.97, -2.15, -61.61) | |
| 11:14899672 | R>H | A:501 | (-41.81, -4.81, -62.64) | |
| 11:14899673 | COSM221265 | R>C | A:501 | (-41.81, -4.81, -62.64) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:14907379 | COSM274722 | E>K | A:104 | (-68.55, -4.05, -20.73) |
| 11:14902201 | COSM1721785 | E>K | A:161 | (-45.57, 8.95, -48.12) |
| 11:14902108 | COSM1675852 | N>D | A:192 | (-47.65, 12.39, -38.42) |
| 11:14902066 | COSM925348 | D>N | A:206 | (-34.52, 14.55, -34.20) |
| 11:14901838 | COSM3710024 | D>N | A:282 | (-61.15, 22.42, -28.88) |
| 11:14900776 | COSM1627884 | Y>C | A:405 | (-50.26, -18.30, -32.04) |