General Structure Information
| PDB ID | 4dyo |
| HGNC Gene Label(s) | DNPEP |
| Structure Name | crystal structure of human aspartyl aminopeptidase (dnpep) in complex with aspartic acid hydroxamate |
| Resolution | 2.2Å |
| Reference | AUTH A.CHAIKUAD,E.S.PILKA,A.D.RISO,F.V.DELFT,K.L.KAVANAGH,AUTH 2 C.VENIEN-BRYAN,U.OPPERMANN,W.W.YUETITL STRUCTURE OF HUMAN ASPARTYL AMINOPEPTIDASE COMPLEXED WITHTITL 2 SUBSTRATE ANALOGUE: INSIGHT INTO CATALYTIC MECHANISM,TITL 3 SUBSTRATE SPECIFICITY AND M18 PEPTIDASE FAMILY.REF BMC STRUCT.BIOL. V. 12 14 2012REFN ESSN 1472-6807PMID 22720794DOI 10.1186/1472-6807-12-14 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 452 |
| Number Of SNVs | 133 |
| Number Of Permutations | 69427 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.016 |
| p-value | 0.605 |
COSMIC
| Number Of Residues | 452 |
| Number Of SNVs | 9 |
| Number Of Permutations | 6543 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.056 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 133 |
| Number Of COSMIC SNVs | 8 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | -0.022 |
| p-value | 0.787 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:220251863 | R>L | A:10 | (114.06, 34.06, 68.39) | |
| 2:220251852 | V>L | A:14 | (113.15, 38.91, 65.79) | |
| 2:220251849 | rs556988881 | Q>K | A:15 | (114.78, 43.10, 66.52) |
| 2:220251839 | rs375414611 | A>G | A:18 | (112.24, 43.56, 61.25) |
| 2:220251819 | rs372371866 | V>M | A:25 | (108.71, 49.39, 53.40) |
| 2:220251810 | S>C | A:28 | (108.59, 50.50, 48.51) | |
| 2:220251685 | rs11539909 | N>H | A:40 | (117.55, 45.03, 43.09) |
| 2:220251671 | Q>H | A:44 | (122.54, 40.76, 44.78) | |
| 2:220251651 | K>R | A:51 | (112.48, 39.52, 28.12) | |
| 2:220251633 | N>S | A:57 | (116.02, 27.64, 27.38) | |
| 2:220251631 | I>F | A:58 | (113.62, 27.31, 31.22) | |
| 2:220251625 | rs534944028 | P>T | A:60 | (117.31, 22.52, 35.11) |
| 2:220251495 | F>L | A:65 | (113.56, 38.25, 37.24) | |
| 2:220251496 | F>S | A:65 | (113.56, 38.25, 37.24) | |
| 2:220251493 | M>T | A:66 | (108.70, 38.20, 34.81) | |
| 2:220251491 | T>A | A:67 | (108.40, 42.16, 35.10) | |
| 2:220251481 | S>F | A:70 | (106.89, 47.66, 36.24) | |
| 2:220251470 | I>V | A:74 | (106.70, 36.21, 38.29) | |
| 2:220251466 | COSM442347 | A>V | A:75 | (109.91, 34.43, 40.78) |
| 2:220251451 | COSM1530838 | G>D | A:80 | (116.77, 19.51, 39.27) |
| 2:220251431 | G>S | A:87 | (105.09, 21.13, 40.10) | |
| 2:220251422 | L>F | A:90 | (103.18, 28.86, 44.18) | |
| 2:220251416 | COSM1186123 | G>R | A:92 | (101.51, 35.01, 47.12) |
| 2:220251406 | T>M | A:95 | (102.67, 45.20, 44.96) | |
| 2:220251399 | S>R | A:97 | (98.78, 49.77, 48.90) | |
| 2:220251397 | rs373627281 | P>L | A:98 | (95.86, 51.55, 50.09) |
| 2:220251398 | P>S | A:98 | (95.86, 51.55, 50.09) | |
| 2:220251394 | rs569772365 | C>F | A:99 | (96.81, 55.34, 47.84) |
| 2:220251395 | C>R | A:99 | (96.81, 55.34, 47.84) | |
| 2:220251389 | COSM3768955 | R>W | A:101 | (97.67, 57.02, 42.06) |
| 2:220251133 | V>L | A:102 | (98.66, 62.32, 40.73) | |
| 2:220251127 | rs554588805 | R>C | A:104 | (96.71, 61.04, 34.45) |
| 2:220251123 | rs572312244 | R>Q | A:105 | (94.38, 67.99, 33.40) |
| 2:220251120 | rs376714406 | S>Y | A:106 | (96.83, 68.32, 38.85) |
| 2:220251117 | rs372081874 | R>H | A:107 | (97.40, 74.02, 37.22) |
| 2:220251118 | COSM4091672 | R>C | A:107 | (97.40, 74.02, 37.22) |
| 2:220251115 | R>C | A:108 | (92.74, 71.47, 41.90) | |
| 2:220251106 | V>L | A:111 | (93.53, 81.11, 48.37) | |
| 2:220251091 | rs558527256 | V>I | A:116 | (98.15, 68.27, 43.46) |
| 2:220251085 | V>M | A:118 | (94.39, 63.56, 44.25) | |
| 2:220251072 | G>D | A:122 | (91.38, 52.08, 47.52) | |
| 2:220251066 | G>V | A:124 | (91.23, 53.97, 52.64) | |
| 2:220251050 | rs201927429 | W>C | A:129 | (97.00, 59.45, 53.23) |
| 2:220251042 | R>H | A:132 | (100.32, 62.03, 58.12) | |
| 2:220251043 | R>C | A:132 | (100.32, 62.03, 58.12) | |
| 2:220251033 | T>I | A:135 | (106.11, 62.47, 48.80) | |
| 2:220251021 | R>H | A:139 | (105.34, 54.45, 35.67) | |
| 2:220251018 | V>A | A:140 | (108.15, 58.91, 34.26) | |
| 2:220251019 | rs372079508 | V>I | A:140 | (108.15, 58.91, 34.26) |
| 2:220250817 | P>S | A:145 | (115.55, 64.07, 23.50) | |
| 2:220250804 | R>Q | A:149 | (112.87, 56.41, 22.22) | |
| 2:220250797 | rs367736817 | E>D | A:151 | (113.09, 56.03, 27.93) |
| 2:220250781 | V>M | A:157 | (110.70, 63.28, 46.06) | |
| 2:220250775 | R>W | A:159 | (111.85, 67.31, 49.60) | |
| 2:220250769 | rs6742404 | I>V | A:161 | (106.72, 67.96, 48.51) |
| 2:220250762 | rs530171374 | R>H | A:163 | (100.57, 68.76, 54.82) |
| 2:220250757 | P>A | A:165 | (95.44, 70.43, 55.30) | |
| 2:220250732 | R>Q | A:173 | (83.23, 74.52, 67.12) | |
| 2:220250730 | N>D | A:174 | (80.81, 69.09, 65.52) | |
| 2:220250703 | T>P | A:183 | (87.05, 62.12, 48.35) | |
| 2:220250695 | M>I | A:185 | (86.48, 68.98, 46.95) | |
| 2:220250690 | L>R | A:187 | (91.71, 64.47, 50.01) | |
| 2:220250409 | A>T | A:194 | (102.29, 82.06, 44.38) | |
| 2:220250400 | E>K | A:197 | (106.25, 80.28, 41.58) | |
| 2:220250387 | K>T | A:201 | (111.04, 80.23, 39.45) | |
| 2:220250246 | rs199600488 | R>Q | A:215 | (99.93, 67.80, 32.24) |
| 2:220250241 | H>N | A:217 | (100.83, 73.89, 39.28) | |
| 2:220250237 | rs149936277 | S>L | A:218 | (105.46, 74.52, 37.07) |
| 2:220250227 | M>I | A:221 | (106.62, 69.28, 35.88) | |
| 2:220250226 | S>P | A:222 | (110.39, 71.58, 37.96) | |
| 2:220250207 | L>Q | A:228 | (114.17, 62.63, 35.75) | |
| 2:220250186 | rs549968429 | I>T | A:235 | (107.37, 64.45, 30.71) |
| 2:220250162 | A>V | A:243 | (103.94, 58.96, 50.25) | |
| 2:220250156 | T>I | A:245 | (108.13, 61.20, 54.52) | |
| 2:220250147 | rs907679 | V>A | A:248 | (109.73, 52.73, 59.03) |
| 2:220250148 | V>L | A:248 | (109.73, 52.73, 59.03) | |
| 2:220249160 | rs374335152 | L>F | A:250 | (110.99, 49.19, 65.47) |
| 2:220249153 | rs181316361 | A>S | A:253 | (108.79, 49.70, 75.16) |
| 2:220249149 | Y>F | A:254 | (109.65, 45.92, 75.95) | |
| 2:220249147 | rs200396385 | D>N | A:255 | (111.53, 48.20, 70.11) |
| 2:220249144 | E>K | A:256 | (106.87, 44.66, 70.84) | |
| 2:220249125 | R>Q | A:262 | (103.78, 50.83, 52.33) | |
| 2:220249126 | R>W | A:262 | (103.78, 50.83, 52.33) | |
| 2:220249089 | Q>R | A:274 | (114.42, 36.67, 51.55) | |
| 2:220247932 | L>S | A:276 | (112.57, 31.95, 46.91) | |
| 2:220247918 | rs188238123 | A>T | A:281 | (121.43, 29.68, 49.00) |
| 2:220247912 | P>S | A:283 | (125.50, 24.65, 47.87) | |
| 2:220247905 | S>F | A:285 | (119.63, 24.01, 47.20) | |
| 2:220247887 | H>R | A:291 | (107.91, 20.92, 42.65) | |
| 2:220247885 | COSM1530842 | V>M | A:292 | (108.98, 25.21, 40.03) |
| 2:220247881 | COSM1250504 | R>H | A:293 | (111.60, 26.27, 44.90) |
| 2:220247882 | R>C | A:293 | (111.60, 26.27, 44.90) | |
| 2:220247878 | M>T | A:294 | (106.74, 30.59, 41.51) | |
| 2:220247879 | M>V | A:294 | (106.74, 30.59, 41.51) | |
| 2:220247876 | V>F | A:295 | (107.21, 34.36, 44.09) | |
| 2:220247866 | rs201424405 | Y>C | A:298 | (99.97, 38.97, 41.38) |
| 2:220247863 | D>G | A:299 | (99.34, 45.56, 40.78) | |
| 2:220247860 | rs375215381 | N>S | A:300 | (95.79, 46.09, 40.80) |
| 2:220246860 | V>A | A:303 | (91.25, 47.54, 42.91) | |
| 2:220246857 | G>V | A:304 | (90.18, 43.40, 42.04) | |
| 2:220246837 | A>S | A:311 | (95.35, 37.94, 39.74) | |
| 2:220246833 | rs570417572 | Q>L | A:312 | (91.32, 38.41, 37.52) |
| 2:220246824 | L>P | A:315 | (100.64, 36.67, 33.42) | |
| 2:220246807 | R>W | A:321 | (100.38, 26.54, 29.35) | |
| 2:220246804 | COSM387216 | R>W | A:322 | (106.51, 30.85, 28.13) |
| 2:220246788 | C>F | A:327 | (107.51, 17.87, 22.62) | |
| 2:220246786 | Q>E | A:328 | (108.61, 14.85, 25.14) | |
| 2:220246779 | COSM122663 | P>L | A:330 | (101.34, 16.83, 25.37) |
| 2:220246749 | S>F | A:340 | (100.36, 22.49, 42.47) | |
| 2:220246744 | M>V | A:342 | (99.41, 29.37, 46.12) | |
| 2:220246735 | A>T | A:345 | (100.12, 36.09, 51.44) | |
| 2:220246717 | V>M | A:351 | (92.29, 41.49, 68.48) | |
| 2:220246283 | rs536978105 | R>Q | A:364 | (89.71, 37.02, 70.28) |
| 2:220246274 | F>S | A:367 | (100.54, 41.58, 67.89) | |
| 2:220246271 | H>R | A:368 | (104.45, 38.64, 69.30) | |
| 2:220246157 | rs35978112 | G>V | A:370 | (101.51, 33.82, 64.45) |
| 2:220246152 | COSM1405633 | V>M | A:372 | (96.70, 33.98, 60.75) |
| 2:220246146 | rs200549109 | K>E | A:374 | (93.04, 33.94, 56.45) |
| 2:220246137 | S>G | A:377 | (83.34, 28.50, 53.77) | |
| 2:220246127 | rs569695061 | R>H | A:380 | (85.47, 36.66, 50.61) |
| 2:220246128 | rs112463725 | R>C | A:380 | (85.47, 36.66, 50.61) |
| 2:220246124 | Y>C | A:381 | (89.60, 34.23, 53.22) | |
| 2:220246119 | S>P | A:383 | (91.20, 27.99, 53.08) | |
| 2:220246112 | rs201204134 COSM3407592 |
A>V | A:385 | (91.15, 20.93, 55.34) |
| 2:220246091 | rs201486555 COSM3721544 |
R>Q | A:392 | (98.06, 23.51, 60.82) |
| 2:220246079 | N>S | A:396 | (105.36, 20.52, 63.42) | |
| 2:220246077 | K>E | A:397 | (108.21, 19.34, 60.12) | |
| 2:220246068 | V>I | A:400 | (106.00, 28.07, 63.14) | |
| 2:220239737 | M>T | A:406 | (86.51, 32.40, 61.23) | |
| 2:220239731 | COSM573624 | R>Q | A:408 | (80.68, 38.54, 64.52) |
| 2:220239732 | rs375968327 | R>W | A:408 | (80.68, 38.54, 64.52) |
| 2:220239719 | rs200988234 | P>R | A:412 | (81.41, 41.83, 56.49) |
| 2:220239707 | rs200051333 | T>I | A:416 | (92.39, 37.48, 48.93) |
| 2:220239686 | S>F | A:423 | (89.73, 30.15, 39.90) | |
| 2:220239671 | rs369409896 | R>Q | A:428 | (95.34, 22.32, 46.57) |
| 2:220239672 | R>W | A:428 | (95.34, 22.32, 46.57) | |
| 2:220239669 | V>L | A:429 | (95.03, 28.12, 47.68) | |
| 2:220239638 | M>T | A:439 | (94.40, 46.76, 57.46) | |
| 2:220239632 | rs376806983 | S>C | A:441 | (96.56, 53.17, 57.42) |
| 2:220239603 | rs368993821 | V>I | A:451 | (108.99, 38.78, 59.93) |
| 2:220239596 | rs376715559 | Q>R | A:453 | (107.10, 33.55, 62.98) |
| 2:220239593 | T>N | A:454 | (106.56, 34.25, 57.85) | |
| 2:220239585 | L>V | A:457 | (106.30, 28.84, 57.29) | |
| 2:220239577 | K>N | A:459 | (113.12, 28.05, 54.19) | |
| 2:220239579 | K>E | A:459 | (113.12, 28.05, 54.19) | |
| 2:220239063 | G>D | A:460 | (109.63, 25.20, 54.44) | |
| 2:220239057 | F>S | A:462 | (109.44, 27.29, 48.85) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:220251467 | COSM1016731 | A>T | A:75 | (109.91, 34.43, 40.78) |
| 2:220251446 | COSM1669779 | Y>H | A:82 | (110.72, 20.73, 36.19) |
| 2:220251123 | COSM3044940 | R>Q | A:105 | (94.38, 67.99, 33.40) |
| 2:220251079 | COSM3044939 | T>A | A:120 | (90.96, 57.60, 45.49) |
| 2:220250763 | COSM3909645 | R>C | A:163 | (100.57, 68.76, 54.82) |
| 2:220249150 | COSM1752369 | Y>N | A:254 | (109.65, 45.92, 75.95) |
| 2:220246734 | COSM3714132 | A>E | A:345 | (100.12, 36.09, 51.44) |
| 2:220246152 | COSM1405633 | V>M | A:372 | (96.70, 33.98, 60.75) |
| 2:220239708 | COSM1752368 | T>S | A:416 | (92.39, 37.48, 48.93) |