General Structure Information
| PDB ID | 1n3c |
| HGNC Gene Label(s) | OGG1 |
| Structure Name | structural and biochemical exploration of a critical amino acid in human 8-oxoguanine glycosylase |
| Resolution | 2.7Å |
| Reference | AUTH D.P.NORMAN,S.J.CHUNG,G.L.VERDINETITL STRUCTURAL AND BIOCHEMICAL EXPLORATION OF ATITL 2 CRITICAL AMINO ACID IN HUMAN 8-OXOGUANINETITL 3 GLYCOSYLASEREF BIOCHEMISTRY V. 42 1564 2003REFN ISSN 0006-2960PMID 12578369DOI 10.1021/BI026823D |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 311 |
| Number Of SNVs | 91 |
| Number Of Permutations | 14939 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.028 |
| p-value | 0.512 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:9792005 | G>E | A:12 | (25.89, -7.31, 39.17) | |
| 3:9792008 | H>R | A:13 | (26.19, -3.35, 37.76) | |
| 3:9792020 | A>V | A:17 | (31.71, -8.86, 27.72) | |
| 3:9792041 | A>V | A:24 | (20.59, -5.59, 22.57) | |
| 3:9792046 | I>L | A:26 | (19.54, 0.21, 18.98) | |
| 3:9792050 | P>L | A:27 | (20.45, 0.84, 15.09) | |
| 3:9792062 | S>C | A:31 | (26.93, 10.66, 15.04) | |
| 3:9792071 | R>L | A:34 | (29.23, 11.02, 22.57) | |
| 3:9792079 | L>V | A:37 | (28.56, 14.03, 25.70) | |
| 3:9792095 | rs375516876 | G>E | A:42 | (21.95, 17.69, 33.20) |
| 3:9792097 | rs139595187 | Q>E | A:43 | (19.53, 16.30, 30.03) |
| 3:9792098 | Q>L | A:43 | (19.53, 16.30, 30.03) | |
| 3:9792106 | R>W | A:46 | (17.75, 8.45, 38.21) | |
| 3:9792107 | rs104893751 | R>Q | A:46 | (17.75, 8.45, 38.21) |
| 3:9792635 | R>S | A:48 | (25.09, 7.26, 38.47) | |
| 3:9792643 | rs147083396 | S>T | A:51 | (31.22, 0.40, 34.19) |
| 3:9792651 | H>Y | A:54 | (29.14, 0.01, 30.52) | |
| 3:9792664 | V>A | A:58 | (15.61, 4.17, 36.00) | |
| 3:9792670 | A>V | A:60 | (10.70, 2.85, 32.24) | |
| 3:9792684 | COSM585101 COSM1143431 |
T>A | A:65 | (23.06, -1.04, 31.29) |
| 3:9792694 | Q>L | A:68 | (28.14, 3.63, 22.62) | |
| 3:9792696 | T>A | A:69 | (29.70, 0.54, 19.51) | |
| 3:9792697 | T>S | A:69 | (29.70, 0.54, 19.51) | |
| 3:9792699 | rs138037313 | E>K | A:70 | (31.50, 3.93, 16.20) |
| 3:9792700 | E>G | A:70 | (31.50, 3.93, 16.20) | |
| 3:9792718 | T>I | A:76 | (20.90, -4.38, 29.51) | |
| 3:9792754 | P>H | A:88 | (16.29, -6.79, 25.52) | |
| 3:9792757 | T>I | A:89 | (11.95, -6.92, 24.30) | |
| 3:9792765 | E>K | A:92 | (11.82, -3.91, 26.59) | |
| 3:9792775 | A>V | A:95 | (11.79, 2.67, 25.30) | |
| 3:9792777 | rs138111256 | V>M | A:96 | (15.49, 3.22, 24.51) |
| 3:9792780 | COSM1049166 COSM1218412 COSM1049165 COSM1218413 |
R>S | A:97 | (14.24, 4.40, 19.13) |
| 3:9792784 | K>R | A:98 | (10.22, 7.19, 22.88) | |
| 3:9792796 | L>R | A:102 | (16.72, 7.72, 18.12) | |
| 3:9792798 | rs139632793 | D>H | A:103 | (12.84, 9.13, 15.13) |
| 3:9792800 | D>E | A:103 | (12.84, 9.13, 15.13) | |
| 3:9792805 | T>N | A:105 | (18.31, 13.37, 12.48) | |
| 3:9792807 | L>V | A:106 | (21.61, 15.13, 15.81) | |
| 3:9792810 | A>T | A:107 | (22.60, 15.40, 11.32) | |
| 3:9792811 | A>V | A:107 | (22.60, 15.40, 11.32) | |
| 3:9792814 | Q>R | A:108 | (19.47, 16.80, 9.03) | |
| 3:9792822 | rs377605863 | H>Y | A:111 | (23.45, 20.97, 7.87) |
| 3:9792826 | H>R | A:112 | (19.83, 24.45, 10.25) | |
| 3:9792843 | S>P | A:118 | (29.95, 29.83, 12.09) | |
| 3:9792851 | F>L | A:120 | (26.80, 24.69, 16.37) | |
| 3:9792866 | Q>H | A:125 | (33.23, 19.03, 15.56) | |
| 3:9793460 | R>Q | A:131 | (20.03, 13.16, 20.95) | |
| 3:9793469 | rs371071998 | R>Q | A:134 | (9.80, 12.57, 25.16) |
| 3:9793471 | Q>E | A:135 | (12.95, 13.61, 30.86) | |
| 3:9793480 | I>V | A:138 | (6.78, 14.10, 37.82) | |
| 3:9793483 | E>K | A:139 | (12.04, 12.29, 36.85) | |
| 3:9793487 | C>Y | A:140 | (11.76, 16.81, 35.07) | |
| 3:9793520 | N>S | A:151 | (26.12, 21.80, 41.87) | |
| 3:9793528 | rs374572934 | R>C | A:154 | (23.72, 19.83, 46.17) |
| 3:9793532 | I>T | A:155 | (21.48, 18.22, 41.65) | |
| 3:9793549 | R>W | A:161 | (19.93, 11.88, 49.02) | |
| 3:9793550 | R>Q | A:161 | (19.93, 11.88, 49.02) | |
| 3:9793553 | L>R | A:162 | (14.00, 12.07, 46.72) | |
| 3:9793561 | A>P | A:165 | (13.06, 7.89, 50.51) | |
| 3:9793573 | R>W | A:169 | (13.41, -1.64, 47.13) | |
| 3:9793574 | R>Q | A:169 | (13.41, -1.64, 47.13) | |
| 3:9793590 | D>E | A:174 | (26.58, -4.83, 43.13) | |
| 3:9793597 | rs144249605 | T>S | A:177 | (19.23, -0.06, 45.62) |
| 3:9793601 | rs570953488 | Y>C | A:178 | (19.22, 0.97, 40.82) |
| 3:9793604 | H>R | A:179 | (14.73, 3.32, 44.60) | |
| 3:9793625 | A>G | A:186 | (4.73, 10.81, 48.15) | |
| 3:9796396 | V>M | A:192 | (8.13, 15.14, 53.13) | |
| 3:9796400 | E>G | A:193 | (9.64, 20.17, 54.38) | |
| 3:9796405 | rs545825409 | H>Y | A:195 | (12.91, 12.85, 55.24) |
| 3:9796411 | rs139716494 | R>W | A:197 | (14.89, 20.83, 55.26) |
| 3:9796426 | G>S | A:202 | (17.05, 22.58, 51.48) | |
| 3:9796432 | rs376536141 | R>C | A:204 | (16.12, 23.67, 47.02) |
| 3:9796438 | rs202182784 | R>C | A:206 | (8.63, 24.88, 52.18) |
| 3:9796447 | S>G | A:209 | (6.01, 19.78, 49.38) | |
| 3:9796451 | A>V | A:210 | (4.47, 22.59, 47.70) | |
| 3:9796456 | A>P | A:212 | (3.03, 18.21, 45.16) | |
| 3:9796460 | R>Q | A:213 | (1.05, 19.32, 49.58) | |
| 3:9796483 | rs373826669 | G>R | A:221 | (-2.82, 16.58, 38.58) |
| 3:9796499 | rs202010194 | Q>P | A:226 | (0.17, 14.13, 31.69) |
| 3:9796508 | rs1805373 | R>Q | A:229 | (3.99, 15.89, 26.85) |
| 3:9796510 | rs55667729 | E>Q | A:230 | (-1.15, 18.05, 24.31) |
| 3:9796531 | H>Y | A:237 | (6.97, 29.11, 30.91) | |
| 3:9798197 | rs560032348 | A>P | A:264 | (13.01, 26.00, 24.89) |
| 3:9798198 | A>D | A:264 | (13.01, 26.00, 24.89) | |
| 3:9798206 | rs571850004 | V>M | A:267 | (18.53, 31.56, 30.38) |
| 3:9798216 | H>R | A:270 | (26.53, 28.00, 32.07) | |
| 3:9798228 | I>T | A:274 | (27.87, 30.92, 25.66) | |
| 3:9798257 | T>A | A:284 | (18.93, 45.71, 23.05) | |
| 3:9798261 | COSM1425799 COSM4120767 COSM1425798 COSM1425797 COSM1425800 |
T>M | A:285 | (15.01, 45.81, 24.13) |
| 3:9798270 | rs3219012 | A>V | A:288 | (19.87, 45.88, 31.96) |
| 3:9798278 | P>S | A:291 | (21.51, 39.06, 34.51) | |
| 3:9798279 | COSM3916792 COSM3916790 COSM3916791 COSM3916789 COSM3916793 |
P>L | A:291 | (21.51, 39.06, 34.51) |
| 3:9798284 | P>S | A:293 | (13.90, 39.28, 34.25) | |
| 3:9798290 | rs149295536 | T>A | A:295 | (17.80, 40.33, 30.07) |
| 3:9798462 | R>W | A:304 | (13.97, 31.24, 20.57) | |
| 3:9798463 | rs376666435 | R>Q | A:304 | (13.97, 31.24, 20.57) |
| 3:9798467 | S>R | A:305 | (16.35, 33.83, 16.07) | |
| 3:9798478 | rs200356068 | P>R | A:309 | (12.55, 25.55, 15.77) |
| 3:9798483 | A>T | A:311 | (16.97, 26.09, 20.01) | |
| 3:9798493 | A>G | A:314 | (21.38, 23.82, 20.38) | |
| 3:9798499 | rs200462706 | A>V | A:316 | (22.40, 21.45, 24.62) |
| 3:9807511 | rs576720672 | F>L | A:323 | (29.77, 21.52, 31.54) |