General Structure Information
| PDB ID | 4bkn |
| HGNC Gene Label(s) | DPYSL3 |
| Structure Name | human dihydropyrimidinase-related protein 3 (dpysl3) |
| Resolution | 2.1Å |
| Reference | AUTH S.MATHEATITL STRUCTURE OF DPYSL3REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 480 |
| Number Of SNVs | 95 |
| Number Of Permutations | 29518 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.008 |
| p-value | 0.318 |
COSMIC
| Number Of Residues | 480 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1610 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.238 |
| p-value | 0.128 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 95 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.143 |
| p-value | 0.261 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:146804519 | rs374440794 | R>H | A:16 | (-47.04, -30.55, 31.15) |
| 5:146804506 | K>N | A:20 | (-44.43, -42.76, 24.02) | |
| 5:146804493 | rs376535312 | V>I | A:25 | (-29.88, -40.71, 17.53) |
| 5:146804478 | S>T | A:30 | (-28.43, -45.23, 19.75) | |
| 5:146804468 | A>V | A:33 | (-36.54, -43.80, 25.03) | |
| 5:146798153 | rs376419607 | T>I | A:57 | (-48.61, -37.95, 23.69) |
| 5:146798151 | I>V | A:58 | (-45.82, -37.53, 20.16) | |
| 5:146798145 | A>T | A:60 | (-42.65, -42.37, 17.39) | |
| 5:146798127 | I>V | A:66 | (-32.47, -36.19, 15.80) | |
| 5:146798124 | P>S | A:67 | (-30.55, -33.65, 17.76) | |
| 5:146798120 | COSM3827340 COSM1754100 |
G>E | A:68 | (-31.39, -30.32, 16.10) |
| 5:146798118 | rs373398234 | G>S | A:69 | (-30.18, -28.41, 13.76) |
| 5:146798112 | rs369477048 COSM371956 |
D>N | A:71 | (-27.09, -23.67, 9.72) |
| 5:146798105 | H>R | A:73 | (-22.79, -19.78, 6.77) | |
| 5:146798097 | F>L | A:76 | (-31.35, -15.73, 7.26) | |
| 5:146798087 | P>Q | A:79 | (-27.28, -6.14, 3.37) | |
| 5:146798084 | Y>C | A:80 | (-25.24, -6.09, -2.82) | |
| 5:146798079 | G>R | A:82 | (-30.01, -1.42, -1.10) | |
| 5:146798061 | COSM1063918 | D>N | A:88 | (-36.67, -12.71, 6.39) |
| 5:146798055 | F>V | A:90 | (-40.68, -15.58, 9.46) | |
| 5:146798043 | K>E | A:94 | (-41.03, -20.86, 7.69) | |
| 5:146798039 | A>V | A:95 | (-36.86, -22.99, 5.99) | |
| 5:146798037 | A>T | A:96 | (-35.02, -24.28, 8.69) | |
| 5:146795422 | P>A | A:110 | (-19.63, -4.55, 9.03) | |
| 5:146795394 | A>V | A:119 | (-23.90, -3.99, 13.28) | |
| 5:146795391 | rs572434542 | Y>C | A:120 | (-24.50, -7.36, 17.97) |
| 5:146795377 | COSM1063917 | E>Q | A:125 | (-33.50, -4.63, 15.82) |
| 5:146795359 | S>G | A:131 | (-36.47, -15.66, 14.59) | |
| 5:146795338 | H>Y | A:138 | (-20.83, -15.78, 13.02) | |
| 5:146795331 | D>G | A:140 | (-17.86, -10.42, 9.41) | |
| 5:146795329 | rs147541241 | I>V | A:141 | (-13.15, -8.57, 10.73) |
| 5:146795314 | D>N | A:146 | (-6.42, 0.42, 16.87) | |
| 5:146795308 | rs116679689 | V>I | A:148 | (-11.93, -2.86, 15.03) |
| 5:146795295 | V>A | A:152 | (-13.38, -7.68, 18.90) | |
| 5:146795296 | V>M | A:152 | (-13.38, -7.68, 18.90) | |
| 5:146795287 | COSM1063915 | L>F | A:155 | (-18.41, -7.89, 20.69) |
| 5:146795272 | G>R | A:160 | (-21.82, -13.25, 22.72) | |
| 5:146793218 | V>L | A:161 | (-19.44, -12.84, 20.07) | |
| 5:146793188 | K>E | A:171 | (-8.35, -6.28, -4.39) | |
| 5:146793178 | rs575844670 | Y>C | A:174 | (-15.25, -6.75, 2.46) |
| 5:146793172 | V>A | A:176 | (-7.02, -8.77, 4.86) | |
| 5:146792232 | rs377270433 | C>F | A:187 | (-6.42, -11.01, 18.84) |
| 5:146792214 | A>V | A:193 | (-11.83, -16.89, 19.31) | |
| 5:146792210 | I>M | A:194 | (-13.40, -19.14, 16.36) | |
| 5:146792209 | A>T | A:195 | (-10.82, -17.86, 13.20) | |
| 5:146792190 | N>S | A:201 | (-6.04, -14.90, -4.00) | |
| 5:146792187 | rs370048196 | G>A | A:202 | (-8.07, -11.78, -4.80) |
| 5:146788349 | R>H | A:211 | (-8.04, -13.98, -18.69) | |
| 5:146788350 | rs368879178 | R>C | A:211 | (-8.04, -13.98, -18.69) |
| 5:146788347 | M>L | A:212 | (-12.84, -13.93, -18.50) | |
| 5:146788328 | rs201487610 | T>I | A:218 | (-20.20, -12.06, -19.84) |
| 5:146788311 | rs367968514 | V>I | A:224 | (-16.25, -20.85, -12.41) |
| 5:146788304 | S>N | A:226 | (-12.57, -16.34, -12.27) | |
| 5:146785271 | R>H | A:238 | (-2.16, -17.31, 2.66) | |
| 5:146785265 | I>T | A:240 | (-3.44, -23.35, 7.66) | |
| 5:146785232 | Y>C | A:251 | (-14.71, -22.32, 10.75) | |
| 5:146785230 | rs377142026 | V>I | A:252 | (-12.46, -23.07, 6.50) |
| 5:146785215 | S>G | A:257 | (-12.67, -27.93, -3.08) | |
| 5:146785200 | D>H | A:262 | (-7.24, -32.71, 0.73) | |
| 5:146781253 | V>A | A:273 | (-6.48, -26.10, 15.50) | |
| 5:146781232 | T>S | A:280 | (-25.96, -27.83, 1.10) | |
| 5:146781221 | G>S | A:284 | (-25.10, -31.96, -3.73) | |
| 5:146781184 | A>V | A:296 | (-31.20, -17.70, -14.65) | |
| 5:146781176 | A>S | A:299 | (-27.18, -17.29, -11.81) | |
| 5:146781146 | P>A | A:309 | (-16.48, -27.82, -12.30) | |
| 5:146781137 | T>A | A:312 | (-15.70, -36.01, -8.46) | |
| 5:146781118 | rs539740774 | N>S | A:318 | (-20.18, -36.28, 1.43) |
| 5:146780395 | G>R | A:324 | (-13.54, -35.86, 9.90) | |
| 5:146780370 | A>V | A:332 | (-24.80, -20.07, 2.91) | |
| 5:146780337 | I>T | A:343 | (-28.28, -6.52, -11.63) | |
| 5:146780301 | T>I | A:355 | (-27.19, -20.18, -3.06) | |
| 5:146780298 | N>S | A:356 | (-30.52, -22.57, -2.09) | |
| 5:146778815 | A>T | A:371 | (-27.77, -43.97, 2.05) | |
| 5:146778811 | T>R | A:372 | (-24.22, -43.86, 0.57) | |
| 5:146778796 | E>A | A:377 | (-27.56, -42.99, 13.00) | |
| 5:146778797 | COSM3852481 | E>K | A:377 | (-27.56, -42.99, 13.00) |
| 5:146778764 | A>S | A:388 | (-21.33, -27.04, 16.21) | |
| 5:146778755 | I>V | A:391 | (-16.78, -25.60, 17.48) | |
| 5:146778712 | S>Y | A:405 | (-30.88, -30.16, 27.28) | |
| 5:146778707 | S>G | A:407 | (-36.50, -28.73, 23.79) | |
| 5:146778698 | COSM3852479 | V>I | A:410 | (-36.14, -34.04, 14.83) |
| 5:146778677 | V>M | A:417 | (-38.67, -40.08, -0.73) | |
| 5:146778668 | rs372122886 | V>I | A:420 | (-36.32, -30.60, -4.39) |
| 5:146778646 | S>C | A:427 | (-37.80, -19.71, -0.43) | |
| 5:146777404 | A>V | A:429 | (-36.82, -18.18, -4.44) | |
| 5:146777371 | rs188735247 | R>H | A:440 | (-32.00, -41.40, -0.10) |
| 5:146777366 | rs2304044 | A>S | A:442 | (-37.12, -36.50, 6.36) |
| 5:146777363 | P>S | A:443 | (-38.34, -34.01, 8.45) | |
| 5:146777331 | M>I | A:453 | (-42.47, -25.36, 15.42) | |
| 5:146777323 | D>G | A:456 | (-49.04, -33.27, 9.55) | |
| 5:146777315 | L>M | A:459 | (-44.91, -24.76, 9.45) | |
| 5:146777290 | rs377459296 | R>H | A:467 | (-33.91, -18.17, 23.01) |
| 5:146777291 | R>S | A:467 | (-33.91, -18.17, 23.01) | |
| 5:146777281 | rs532476363 | P>L | A:470 | (-25.18, -16.31, 24.48) |
| 5:146777276 | S>G | A:472 | (-18.56, -18.23, 25.41) | |
| 5:146777261 | Y>D | A:477 | (-13.79, -29.68, 20.05) | |
| 5:146777249 | R>C | A:481 | (-4.96, -29.25, 20.91) | |
| 5:146777236 | R>Q | A:485 | (-0.12, -26.53, 21.35) | |
| 5:146777237 | COSM1434984 | R>W | A:485 | (-0.12, -26.53, 21.35) |
| 5:146775266 | V>I | A:494 | (22.52, -20.12, 23.18) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:146798120 | COSM1754100 | G>A | A:68 | (-31.39, -30.32, 16.10) |
| 5:146798112 | COSM371956 | D>N | A:71 | (-27.09, -23.67, 9.72) |
| 5:146792178 | COSM1754099 | I>T | A:205 | (-9.89, -13.68, -8.38) |
| 5:146785257 | COSM138522 | A>S | A:243 | (-2.72, -19.83, 12.41) |
| 5:146781178 | COSM1434986 | A>V | A:298 | (-26.71, -20.11, -14.02) |
| 5:146780281 | COSM333679 | M>L | A:362 | (-30.43, -32.31, 7.69) |
| 5:146777388 | COSM1754098 | F>L | A:434 | (-30.44, -28.47, -4.57) |