General Structure Information
| PDB ID | 3hfw |
| HGNC Gene Label(s) | ADPRH |
| Structure Name | crystal structure of human adp-ribosylhydrolase 1 (harh1) |
| Resolution | 1.92Å |
| Reference | AUTH F.KOCH-NOLTE,J.MUELLER-DIECKMANN,M.S.WEISS,AUTH 2 C.MUELLER-DIECKMANNTITL CRYSTAL STRUCTURE OF HUMAN ADP-RIBOSYLHYDROLASE 1REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 357 |
| Number Of SNVs | 102 |
| Number Of Permutations | 13557 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.251 |
| p-value | 0.004 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:119301032 | rs370199855 | A>T | A:6 | (38.39, 3.52, 20.86) |
| 3:119301040 | M>I | A:8 | (37.39, 6.43, 15.66) | |
| 3:119301054 | A>G | A:13 | (30.80, -0.43, 16.39) | |
| 3:119301056 | G>R | A:14 | (27.86, 1.11, 17.00) | |
| 3:119301061 | D>E | A:15 | (27.10, 2.50, 13.12) | |
| 3:119301068 | G>R | A:18 | (22.50, -0.56, 15.23) | |
| 3:119301072 | rs147901245 | Y>C | A:19 | (22.55, -0.31, 9.63) |
| 3:119301078 | N>S | A:21 | (23.11, -4.68, 7.62) | |
| 3:119301085 | K>N | A:23 | (17.02, -6.15, 10.85) | |
| 3:119301095 | L>V | A:27 | (13.05, -2.23, 14.00) | |
| 3:119301113 | rs201822828 | I>V | A:33 | (15.83, -4.69, 18.70) |
| 3:119301118 | rs368027725 | H>Q | A:34 | (16.60, -5.35, 23.38) |
| 3:119301119 | R>W | A:35 | (12.09, -9.81, 21.45) | |
| 3:119301120 | R>Q | A:35 | (12.09, -9.81, 21.45) | |
| 3:119301135 | L>P | A:40 | (21.91, -13.13, 17.97) | |
| 3:119301140 | G>S | A:42 | (24.14, -11.20, 22.78) | |
| 3:119301144 | rs547308034 | L>S | A:43 | (26.59, -7.32, 22.94) |
| 3:119301148 | D>E | A:44 | (29.34, -10.28, 24.66) | |
| 3:119301153 | L>Q | A:46 | (27.16, -9.64, 18.51) | |
| 3:119301158 | rs146978056 | V>M | A:48 | (30.97, -6.89, 13.45) |
| 3:119301161 | G>R | A:49 | (32.02, -8.84, 9.99) | |
| 3:119301182 | COSM3391973 COSM1582549 |
D>N | A:56 | (26.85, 7.47, 10.60) |
| 3:119301185 | rs145782367 | T>A | A:57 | (31.36, 5.52, 9.98) |
| 3:119301201 | A>V | A:62 | (35.68, 12.12, 6.33) | |
| 3:119301206 | rs138015780 | A>T | A:64 | (39.06, 12.56, 10.23) |
| 3:119301209 | E>Q | A:65 | (40.46, 10.82, 6.54) | |
| 3:119301225 | rs201028402 | A>G | A:70 | (45.30, 19.68, 7.52) |
| 3:119301244 | L>F | A:76 | (40.10, 27.19, 8.73) | |
| 3:119301255 | rs149117576 | Y>C | A:80 | (36.47, 24.82, 6.44) |
| 3:119301258 | rs192856664 | Y>C | A:81 | (39.61, 21.49, -0.72) |
| 3:119301267 | A>G | A:84 | (34.25, 19.24, 1.11) | |
| 3:119301269 | K>E | A:85 | (37.08, 16.62, -1.97) | |
| 3:119301275 | Y>D | A:87 | (31.99, 15.78, 4.32) | |
| 3:119301288 | M>T | A:91 | (28.36, 10.37, -0.68) | |
| 3:119301295 | D>E | A:93 | (31.13, 4.28, 0.48) | |
| 3:119301302 | rs200634555 TMP_ESP_3_119301302_119301302 |
G>R | A:96 | (23.62, 0.03, 2.08) |
| 3:119301305 | COSM1418029 | R>G | A:97 | (26.83, 2.14, 3.95) |
| 3:119301306 | R>Q | A:97 | (26.83, 2.14, 3.95) | |
| 3:119305141 | rs367735796 | S>L | A:103 | (23.84, 14.34, 3.91) |
| 3:119305147 | H>P | A:105 | (21.15, 17.35, -2.00) | |
| 3:119305155 | M>L | A:108 | (26.45, 15.07, -4.15) | |
| 3:119305165 | K>R | A:111 | (31.11, 23.15, -5.98) | |
| 3:119305179 | rs368454824 | N>Y | A:116 | (32.82, 30.48, 0.23) |
| 3:119305212 | G>C | A:127 | (17.94, 19.10, 11.35) | |
| 3:119305215 | G>S | A:128 | (19.51, 16.63, 11.20) | |
| 3:119305216 | rs369779554 | G>V | A:128 | (19.51, 16.63, 11.20) |
| 3:119305222 | COSM3974108 | G>V | A:130 | (24.46, 14.37, 10.07) |
| 3:119305230 | M>V | A:133 | (26.84, 11.53, 12.05) | |
| 3:119305233 | rs137924029 | R>W | A:134 | (29.45, 14.83, 9.92) |
| 3:119305234 | rs142179039 | R>Q | A:134 | (29.45, 14.83, 9.92) |
| 3:119305242 | C>R | A:137 | (36.79, 14.02, 15.42) | |
| 3:119305267 | H>R | A:145 | (40.20, 26.39, 27.22) | |
| 3:119305294 | V>A | A:154 | (35.29, 23.42, 12.65) | |
| 3:119305304 | E>D | A:157 | (31.11, 26.06, 9.04) | |
| 3:119305305 | S>C | A:158 | (31.11, 20.83, 9.42) | |
| 3:119305309 | rs575459268 | G>D | A:159 | (27.62, 21.05, 9.27) |
| 3:119305312 | rs189558030 | R>Q | A:160 | (26.90, 26.34, 8.10) |
| 3:119305320 | H>Y | A:163 | (22.80, 19.55, 8.08) | |
| 3:119305323 | H>D | A:164 | (22.53, 26.59, 7.09) | |
| 3:119305326 | H>Y | A:165 | (18.47, 24.47, 11.19) | |
| 3:119305332 | rs139344767 | T>A | A:167 | (18.81, 21.86, 15.09) |
| 3:119305333 | T>I | A:167 | (18.81, 21.86, 15.09) | |
| 3:119305347 | A>P | A:172 | (28.16, 19.22, 15.80) | |
| 3:119305354 | rs201509638 | A>V | A:174 | (27.83, 18.58, 20.87) |
| 3:119305375 | Y>S | A:181 | (33.81, 18.73, 27.64) | |
| 3:119305377 | A>T | A:182 | (36.35, 13.13, 27.32) | |
| 3:119305405 | W>S | A:191 | (30.07, 15.83, 29.12) | |
| 3:119305419 | M>L | A:196 | (23.89, 25.17, 27.52) | |
| 3:119305421 | M>I | A:196 | (23.89, 25.17, 27.52) | |
| 3:119305456 | Q>P | A:208 | (31.19, 36.70, 12.56) | |
| 3:119305479 | N>D | A:216 | (20.36, 30.95, 11.70) | |
| 3:119306313 | S>C | A:221 | (14.96, 28.31, 20.41) | |
| 3:119306319 | rs558829713 | F>Y | A:223 | (19.93, 22.71, 20.37) |
| 3:119306324 | T>A | A:225 | (14.39, 24.79, 24.68) | |
| 3:119306357 | I>V | A:236 | (22.07, 17.74, 34.79) | |
| 3:119306358 | I>S | A:236 | (22.07, 17.74, 34.79) | |
| 3:119306366 | G>R | A:239 | (26.78, 20.41, 36.72) | |
| 3:119306385 | F>S | A:245 | (18.07, 8.39, 35.16) | |
| 3:119306397 | rs537852686 | F>S | A:249 | (14.25, 4.60, 31.60) |
| 3:119306399 | G>S | A:250 | (12.93, 0.57, 30.07) | |
| 3:119306433 | L>P | A:261 | (13.50, 13.81, 23.04) | |
| 3:119306441 | rs147911198 | S>P | A:264 | (9.06, 14.09, 13.69) |
| 3:119306447 | rs139662260 | W>G | A:266 | (13.82, 8.16, 13.18) |
| 3:119306466 | H>R | A:272 | (17.61, 17.61, 19.13) | |
| 3:119306468 | rs145418642 | D>N | A:273 | (17.70, 13.91, 19.23) |
| 3:119306482 | rs199863749 | I>M | A:277 | (19.68, 9.74, 23.08) |
| 3:119306483 | A>T | A:278 | (24.11, 9.51, 23.78) | |
| 3:119306484 | A>V | A:278 | (24.11, 9.51, 23.78) | |
| 3:119306489 | rs367917789 | D>N | A:280 | (20.69, 9.67, 28.80) |
| 3:119306495 | V>I | A:282 | (27.11, 8.14, 28.87) | |
| 3:119306498 | L>I | A:283 | (24.84, 10.09, 32.13) | |
| 3:119306505 | A>G | A:285 | (26.64, 3.40, 31.81) | |
| 3:119306514 | S>F | A:288 | (28.77, -0.51, 30.87) | |
| 3:119306532 | H>P | A:294 | (21.43, -2.71, 26.39) | |
| 3:119306535 | rs150984649 | R>Q | A:295 | (20.08, 2.80, 28.33) |
| 3:119306568 | T>I | A:306 | (22.48, 7.25, 18.90) | |
| 3:119306573 | A>T | A:308 | (28.15, 6.72, 16.82) | |
| 3:119306579 | rs200018595 | A>T | A:310 | (28.14, 6.97, 22.25) |
| 3:119306582 | G>S | A:311 | (31.08, 5.34, 21.30) | |
| 3:119306586 | C>Y | A:312 | (33.25, 8.17, 20.58) | |
| 3:119306603 | Y>H | A:318 | (35.38, 4.13, 30.18) | |
| 3:119306625 | rs375932383 | P>L | A:325 | (36.56, -9.03, 21.12) |
| 3:119306633 | Y>H | A:328 | (36.89, -4.84, 18.53) | |
| 3:119306634 | Y>C | A:328 | (36.89, -4.84, 18.53) | |
| 3:119306645 | E>K | A:332 | (33.61, -1.91, 7.27) | |
| 3:119306648 | Y>H | A:333 | (36.19, 0.93, 6.25) | |
| 3:119306655 | N>S | A:335 | (43.47, -0.56, 9.50) | |
| 3:119306657 | R>W | A:336 | (39.92, 4.07, 6.69) | |
| 3:119306658 | rs528878906 | R>Q | A:336 | (39.92, 4.07, 6.69) |
| 3:119306661 | L>R | A:337 | (38.98, 3.58, 12.06) | |
| 3:119306678 | rs367626621 | A>P | A:343 | (46.91, 10.90, 13.57) |
| 3:119306700 | K>R | A:350 | (51.32, 19.28, 20.77) |