General Structure Information
| PDB ID | 1de9 |
| HGNC Gene Label(s) | APEX1 |
| Structure Name | human ape1 endonuclease with bound abasic dna and mn2+ ion |
| Resolution | 3.0Å |
| Reference | AUTH C.D.MOL,T.IZUMI,S.MITRA,J.A.TAINERTITL DNA-BOUND STRUCTURES AND MUTANTS REVEAL ABASIC DNATITL 2 BINDING BY APE1 AND DNA REPAIR COORDINATIONREF NATURE V. 403 451 2000REFN ISSN 0028-0836PMID 10667800DOI 10.1038/35000249 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 276 |
| Number Of SNVs | 82 |
| Number Of Permutations | 22993 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.136 |
| p-value | 0.015 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:20924141 | A>T | A:43 | (49.55, 31.25, 25.19) | |
| 14:20924142 | rs146439344 | A>V | A:43 | (49.55, 31.25, 25.19) |
| 14:20924150 | E>K | A:46 | (42.34, 29.33, 29.12) | |
| 14:20924159 | rs369666174 | P>S | A:49 | (33.54, 28.82, 26.40) |
| 14:20924160 | P>R | A:49 | (33.54, 28.82, 26.40) | |
| 14:20924162 | D>N | A:50 | (30.87, 25.76, 28.64) | |
| 14:20924167 | rs1048945 | Q>H | A:51 | (28.45, 24.58, 22.84) |
| 14:20924170 | K>N | A:52 | (25.32, 24.65, 27.46) | |
| 14:20924172 | T>I | A:53 | (24.34, 23.26, 22.08) | |
| 14:20924177 | P>A | A:55 | (25.29, 19.58, 16.62) | |
| 14:20924183 | G>C | A:57 | (20.48, 22.76, 18.76) | |
| 14:20924193 | rs373098874 | A>V | A:60 | (22.20, 19.98, 27.29) |
| 14:20924204 | rs2307486 | I>V | A:64 | (29.14, 13.24, 32.71) |
| 14:20924226 | G>A | A:71 | (42.75, 10.74, 47.00) | |
| 14:20924228 | L>F | A:72 | (38.48, 10.61, 48.34) | |
| 14:20924258 | rs570639267 | D>Y | A:82 | (33.38, 22.99, 47.71) |
| 14:20924839 | E>Q | A:87 | (30.60, 21.82, 37.58) | |
| 14:20924842 | rs146768400 | A>T | A:88 | (26.56, 20.24, 39.33) |
| 14:20924849 | D>V | A:90 | (23.87, 15.21, 36.03) | |
| 14:20924852 | I>K | A:91 | (26.99, 11.60, 36.47) | |
| 14:20924866 | E>K | A:96 | (43.64, 7.40, 41.97) | |
| 14:20924885 | rs375416869 COSM4049725 |
N>S | A:102 | (35.26, -0.42, 54.68) |
| 14:20924900 | E>A | A:107 | (31.16, 16.12, 53.35) | |
| 14:20924909 | rs200702900 | E>G | A:110 | (26.34, 16.64, 53.11) |
| 14:20924939 | rs553763093 | S>L | A:120 | (35.30, -0.31, 42.99) |
| 14:20924942 | A>V | A:121 | (37.88, -1.63, 45.40) | |
| 14:20924957 | E>G | A:126 | (44.62, -1.06, 51.94) | |
| 14:20924971 | V>M | A:131 | (36.78, 3.66, 41.37) | |
| 14:20924972 | V>A | A:131 | (36.78, 3.66, 41.37) | |
| 14:20924974 | G>S | A:132 | (33.60, 5.96, 41.27) | |
| 14:20924986 | rs374264849 | R>C | A:136 | (20.00, 13.24, 38.52) |
| 14:20924987 | rs368377040 | R>H | A:136 | (20.00, 13.24, 38.52) |
| 14:20924990 | Q>R | A:137 | (18.55, 10.10, 37.21) | |
| 14:20924993 | rs150356603 | C>Y | A:138 | (18.58, 5.46, 39.15) |
| 14:20925001 | K>E | A:141 | (22.33, -2.80, 35.29) | |
| 14:20925013 | rs371886058 | G>S | A:145 | (34.23, -4.89, 35.85) |
| 14:20925152 | D>N | A:148 | (38.90, -11.04, 33.02) | |
| 14:20925155 | E>K | A:149 | (38.43, -13.74, 36.30) | |
| 14:20925159 | rs560607339 | E>G | A:150 | (43.69, -11.29, 34.88) |
| 14:20925165 | D>A | A:152 | (38.02, -7.73, 37.68) | |
| 14:20925176 | R>W | A:156 | (41.69, -0.25, 37.87) | |
| 14:20925177 | R>Q | A:156 | (41.69, -0.25, 37.87) | |
| 14:20925183 | I>T | A:158 | (32.07, 1.37, 37.72) | |
| 14:20925199 | rs149168435 | D>E | A:163 | (17.56, 4.64, 29.56) |
| 14:20925201 | S>L | A:164 | (20.21, 6.11, 25.71) | |
| 14:20925227 | P>S | A:173 | (46.33, -0.26, 34.29) | |
| 14:20925231 | N>S | A:174 | (50.64, 2.70, 35.25) | |
| 14:20925237 | G>V | A:176 | (55.44, 2.17, 35.24) | |
| 14:20925240 | R>Q | A:177 | (58.71, 5.10, 37.31) | |
| 14:20925252 | R>P | A:181 | (51.86, -3.92, 35.55) | |
| 14:20925254 | L>M | A:182 | (54.34, -2.70, 29.25) | |
| 14:20925264 | R>P | A:185 | (48.54, -1.03, 29.88) | |
| 14:20925269 | R>C | A:187 | (47.94, -9.36, 29.78) | |
| 14:20925270 | rs148298598 | R>H | A:187 | (47.94, -9.36, 29.78) |
| 14:20925276 | rs564301313 | D>G | A:189 | (44.73, -2.59, 26.64) |
| 14:20925282 | A>G | A:191 | (40.46, -7.23, 27.32) | |
| 14:20925287 | COSM259465 | R>C | A:193 | (40.52, -3.71, 22.76) |
| 14:20925292 | K>N | A:194 | (38.03, -7.96, 23.22) | |
| 14:20925293 | rs531803725 | F>I | A:195 | (33.85, -5.23, 28.47) |
| 14:20925308 | A>P | A:200 | (28.27, -1.27, 22.19) | |
| 14:20925314 | R>G | A:202 | (23.51, -3.88, 25.01) | |
| 14:20925324 | L>P | A:205 | (29.96, 3.41, 25.19) | |
| 14:20925363 | I>T | A:218 | (48.66, 17.12, 20.62) | |
| 14:20925364 | I>M | A:218 | (48.66, 17.12, 20.62) | |
| 14:20925371 | rs147110862 | R>C | A:221 | (55.02, 20.68, 26.14) |
| 14:20925372 | COSM954254 | R>H | A:221 | (55.02, 20.68, 26.14) |
| 14:20925374 | rs201945833 | N>H | A:222 | (57.82, 16.53, 26.80) |
| 14:20925381 | K>R | A:224 | (60.40, 13.13, 22.42) | |
| 14:20925390 | K>R | A:227 | (59.83, 8.03, 22.36) | |
| 14:20925407 | rs372934376 | T>S | A:233 | (54.37, 3.54, 25.13) |
| 14:20925419 | rs375526265 | R>C | A:237 | (51.01, 6.35, 21.00) |
| 14:20925420 | rs189916038 | R>L | A:237 | (51.01, 6.35, 21.00) |
| 14:20925426 | rs568572047 | G>D | A:239 | (45.88, 0.64, 21.98) |
| 14:20925431 | rs33956927 | G>R | A:241 | (43.67, 2.95, 18.70) |
| 14:20925436 | E>D | A:242 | (43.68, -0.92, 18.53) | |
| 14:20925453 | rs201100630 | P>L | A:248 | (33.47, 2.07, 17.50) |
| 14:20925459 | A>D | A:250 | (35.17, 9.00, 20.04) | |
| 14:20925465 | S>N | A:252 | (35.40, 14.17, 22.84) | |
| 14:20925516 | Y>C | A:269 | (51.69, 16.99, 42.63) | |
| 14:20925518 | M>V | A:270 | (57.73, 16.21, 40.31) | |
| 14:20925520 | M>I | A:270 | (57.73, 16.21, 40.31) | |
| 14:20925523 | M>I | A:271 | (60.19, 19.90, 39.16) | |
| 14:20925531 | rs374977590 COSM173983 |
R>Q | A:274 | (48.86, 22.19, 37.63) |
| 14:20925551 | R>C | A:281 | (44.25, 14.38, 26.61) | |
| 14:20925573 | S>F | A:288 | (29.65, 6.00, 20.46) | |
| 14:20925579 | S>F | A:290 | (25.67, 7.40, 17.83) | |
| 14:20925603 | rs539695269 | S>N | A:298 | (34.55, 18.30, 25.95) |
| 14:20925611 | R>C | A:301 | (36.50, 22.13, 33.84) | |
| 14:20925612 | R>H | A:301 | (36.50, 22.13, 33.84) | |
| 14:20925626 | G>S | A:306 | (42.98, 18.62, 44.31) | |
| 14:20925639 | C>S | A:310 | (41.93, 17.84, 35.87) | |
| 14:20925647 | rs113056798 | T>A | A:313 | (33.05, 18.02, 31.91) |
| 14:20925648 | T>I | A:313 | (33.05, 18.02, 31.91) | |
| 14:20925659 | A>T | A:317 | (21.75, 15.97, 24.03) |