General Structure Information
| PDB ID | 1rqd |
| HGNC Gene Label(s) | DHPS |
| Structure Name | deoxyhypusine synthase holoenzyme in its low ionic strength, high ph crystal form with the inhibitor gc7 bound in the active site |
| Resolution | 3.0Å |
| Reference | AUTH T.C.UMLAND,E.C.WOLFF,M.-H.PARK,D.R.DAVIESTITL A NEW CRYSTAL STRUCTURE OF DEOXYHYPUSINE SYNTHASE REVEALSTITL 2 THE CONFIGURATION OF THE ACTIVE ENZYME AND OF ANTITL 3 ENZYME-NAD-INHIBITOR TERNARY COMPLEXREF J.BIOL.CHEM. V. 279 28697 2004REFN ISSN 0021-9258PMID 15100216DOI 10.1074/JBC.M404095200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 321 |
| Number Of SNVs | 94 |
| Number Of Permutations | 57032 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.046 |
| p-value | 0.231 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:12792499 | S>G | B:28 | (16.75, 20.01, 28.57) | |
| 19:12792441 | rs373390928 | E>V | B:47 | (29.96, 24.05, 38.01) |
| 19:12792423 | G>D | B:53 | (30.58, 15.78, 28.35) | |
| 19:12792419 | F>L | B:54 | (31.62, 13.10, 25.79) | |
| 19:12792412 | T>A | B:57 | (28.90, 14.80, 32.19) | |
| 19:12792403 | G>R | B:60 | (28.98, 15.68, 37.58) | |
| 19:12792399 | R>H | B:61 | (26.02, 11.67, 36.37) | |
| 19:12792390 | rs34610671 | Q>R | B:64 | (24.93, 15.59, 41.35) |
| 19:12792391 | rs376662802 | Q>E | B:64 | (24.93, 15.59, 41.35) |
| 19:12792381 | rs202183750 | N>S | B:67 | (27.03, 15.74, 47.34) |
| 19:12792375 | M>T | B:69 | (25.98, 9.87, 49.38) | |
| 19:12791136 | rs148284175 | E>K | B:71 | (23.37, 16.18, 52.21) |
| 19:12791132 | K>R | B:72 | (20.30, 11.08, 53.42) | |
| 19:12791067 | rs200934098 | L>F | B:94 | (24.23, 4.45, 62.59) |
| 19:12791052 | I>V | B:99 | (29.59, 5.82, 52.96) | |
| 19:12791039 | Y>C | B:103 | (40.74, 1.48, 48.44) | |
| 19:12791030 | N>S | B:106 | (46.77, 0.79, 42.32) | |
| 19:12791028 | L>F | B:107 | (44.68, 3.84, 44.01) | |
| 19:12791013 | I>V | B:112 | (44.76, 8.54, 45.77) | |
| 19:12791009 | rs201592131 COSM991403 |
R>H | B:113 | (48.61, 7.36, 51.57) |
| 19:12791003 | rs374386379 | T>I | B:115 | (42.56, 11.46, 49.01) |
| 19:12790997 | R>H | B:117 | (45.03, 10.72, 55.26) | |
| 19:12790984 | Q>H | B:121 | (41.64, 12.20, 59.19) | |
| 19:12790977 | M>V | B:124 | (34.04, 11.90, 55.53) | |
| 19:12790729 | V>A | B:127 | (33.15, 0.55, 55.17) | |
| 19:12790720 | T>I | B:130 | (41.38, -2.80, 50.05) | |
| 19:12790714 | A>V | B:132 | (46.55, -6.47, 50.00) | |
| 19:12790709 | G>S | B:134 | (46.31, -1.44, 50.07) | |
| 19:12790706 | V>M | B:135 | (46.68, -2.77, 53.43) | |
| 19:12790678 | COSM1304036 | A>V | B:144 | (59.24, 4.34, 52.94) |
| 19:12790673 | T>P | B:146 | (56.82, 5.45, 46.52) | |
| 19:12790661 | COSM709942 COSM991402 |
E>K | B:150 | (59.41, 6.08, 33.08) |
| 19:12790652 | L>I | B:153 | (61.49, 1.61, 33.17) | |
| 19:12790649 | R>G | B:154 | (62.44, -3.05, 30.04) | |
| 19:12790646 | G>R | B:155 | (62.93, -5.26, 34.58) | |
| 19:12790642 | rs142480793 | K>R | B:156 | (67.39, -6.89, 33.11) |
| 19:12790637 | L>F | B:158 | (64.35, -2.12, 37.42) | |
| 19:12790633 | rs139871951 | R>Q | B:159 | (65.39, -8.13, 40.21) |
| 19:12790625 | G>R | B:162 | (66.28, -3.13, 43.55) | |
| 19:12790619 | rs151125642 | N>D | B:164 | (60.21, -3.15, 42.74) |
| 19:12790615 | R>M | B:165 | (57.12, -1.39, 36.82) | |
| 19:12790510 | COSM4074395 | N>S | B:173 | (63.80, -4.29, 47.43) |
| 19:12790506 | rs10425108 | E>D | B:174 | (65.61, -1.35, 50.39) |
| 19:12790472 | I>V | B:186 | (53.27, -7.11, 65.21) | |
| 19:12790457 | rs138403788 | V>L | B:191 | (50.41, -16.04, 67.39) |
| 19:12790356 | G>D | B:198 | (41.43, -16.13, 71.82) | |
| 19:12790357 | G>S | B:198 | (41.43, -16.13, 71.82) | |
| 19:12790354 | V>I | B:199 | (42.35, -13.74, 69.21) | |
| 19:12790344 | T>M | B:202 | (40.09, -11.55, 60.79) | |
| 19:12790323 | R>Q | B:209 | (47.20, -5.02, 66.24) | |
| 19:12790324 | R>W | B:209 | (47.20, -5.02, 66.24) | |
| 19:12790309 | I>V | B:214 | (51.85, 2.36, 61.91) | |
| 19:12790291 | V>M | B:220 | (44.51, 5.06, 55.93) | |
| 19:12790279 | rs575896014 | A>S | B:224 | (40.49, 3.54, 60.69) |
| 19:12790273 | K>E | B:226 | (41.61, 6.93, 66.14) | |
| 19:12788189 | P>S | B:234 | (39.13, -10.99, 51.43) | |
| 19:12788185 | A>V | B:235 | (42.89, -11.63, 49.94) | |
| 19:12788186 | rs547740533 | A>T | B:235 | (42.89, -11.63, 49.94) |
| 19:12788180 | T>A | B:237 | (47.25, -13.69, 51.56) | |
| 19:12788174 | rs535857791 | G>S | B:239 | (51.07, -9.93, 49.39) |
| 19:12788170 | S>L | B:240 | (54.17, -8.42, 51.27) | |
| 19:12788159 | M>V | B:244 | (56.11, -11.05, 55.47) | |
| 19:12788131 | P>L | B:253 | (54.11, -21.68, 63.83) | |
| 19:12788128 | G>V | B:254 | (49.55, -20.71, 63.57) | |
| 19:12788123 | V>I | B:256 | (44.42, -18.36, 61.59) | |
| 19:12788114 | I>V | B:259 | (37.41, -15.38, 55.08) | |
| 19:12788111 | V>I | B:260 | (33.67, -16.53, 57.54) | |
| 19:12788007 | T>R | B:268 | (26.05, -6.81, 59.09) | |
| 19:12788004 | Q>R | B:269 | (28.10, -2.78, 58.29) | |
| 19:12788005 | Q>E | B:269 | (28.10, -2.78, 58.29) | |
| 19:12788001 | A>V | B:270 | (24.46, -3.34, 54.84) | |
| 19:12788002 | A>T | B:270 | (24.46, -3.34, 54.84) | |
| 19:12787981 | G>R | B:277 | (26.94, 4.11, 49.62) | |
| 19:12787976 | M>I | B:278 | (28.33, 2.03, 46.43) | |
| 19:12787965 | G>V | B:282 | (37.68, 0.13, 40.62) | |
| 19:12787960 | G>S | B:284 | (37.16, -6.53, 41.49) | |
| 19:12787957 | V>M | B:285 | (37.38, -8.04, 45.16) | |
| 19:12787953 | V>A | B:286 | (36.96, -3.82, 45.85) | |
| 19:12787945 | rs368781559 | H>D | B:289 | (33.14, -7.90, 49.11) |
| 19:12787933 | A>T | B:293 | (26.79, -6.37, 50.63) | |
| 19:12787929 | rs149307460 | N>S | B:294 | (24.83, -3.34, 49.33) |
| 19:12786955 | R>Q | B:297 | (20.09, -2.47, 51.85) | |
| 19:12786956 | R>W | B:297 | (20.09, -2.47, 51.85) | |
| 19:12786950 | G>R | B:299 | (20.53, -2.33, 47.68) | |
| 19:12786946 | A>V | B:300 | (22.19, 0.71, 46.98) | |
| 19:12786932 | rs200308259 | Y>H | B:305 | (30.70, 2.30, 40.11) |
| 19:12786929 | I>V | B:306 | (35.99, 5.93, 39.44) | |
| 19:12786889 | A>D | B:319 | (30.28, -3.79, 34.78) | |
| 19:12786878 | COSM991399 | E>K | B:323 | (25.23, -6.14, 35.50) |
| 19:12786866 | W>R | B:327 | (23.13, -10.30, 39.94) | |
| 19:12786853 | rs138578372 | R>Q | B:331 | (17.27, 0.71, 45.92) |
| 19:12786854 | rs376086846 | R>W | B:331 | (17.27, 0.71, 45.92) |
| 19:12786851 | V>L | B:332 | (15.51, -0.12, 40.57) | |
| 19:12786846 | D>E | B:333 | (15.11, 3.50, 42.94) | |
| 19:12786848 | D>N | B:333 | (15.11, 3.50, 42.94) | |
| 19:12786845 | A>S | B:334 | (18.87, 4.34, 41.64) | |
| 19:12786836 | rs202112377 | V>I | B:337 | (27.43, 7.32, 38.11) |
| 19:12786747 | V>I | B:339 | (33.65, 7.84, 35.63) | |
| 19:12786740 | rs137888580 | A>G | B:341 | (38.67, 7.01, 34.52) |
| 19:12786741 | rs532677547 | A>T | B:341 | (38.67, 7.01, 34.52) |
| 19:12786738 | COSM1523927 | D>H | B:342 | (42.89, 7.24, 36.31) |
| 19:12786734 | rs61730841 | A>G | B:343 | (41.34, 7.81, 39.89) |
| 19:12786735 | rs200920073 | A>T | B:343 | (41.34, 7.81, 39.89) |
| 19:12786686 | M>T | B:359 | (35.87, 19.67, 56.83) | |
| 19:12786680 | A>D | B:361 | (29.90, 18.94, 59.11) | |
| 19:12786681 | A>T | B:361 | (29.90, 18.94, 59.11) |