General Structure Information
| PDB ID | 1w50 |
| HGNC Gene Label(s) | BACE1 |
| Structure Name | apo structure of bace (beta secretase) |
| Resolution | 1.75Å |
| Reference | AUTH S.PATEL,L.VUILLARD,A.CLEASBY,C.W.MURRAY,J.YONTITL APO AND INHIBITOR COMPLEX STRUCTURES OF BACETITL 2 (BETA-SECRETASE)REF J.MOL.BIOL. V. 343 407 2004REFN ISSN 0022-2836PMID 15451669DOI 10.1016/J.JMB.2004.08.018 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 376 |
| Number Of SNVs | 65 |
| Number Of Permutations | 10776 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.046 |
| p-value | 0.011 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:117186321 | V>A | A:3 | (71.59, 56.52, -15.19) | |
| 11:117186309 | COSM1127898 | R>K | A:7 | (79.14, 53.55, -7.35) |
| 11:117186286 | Y>N | A:15 | (77.30, 54.21, -2.45) | |
| 11:117186258 | P>L | A:24 | (79.05, 72.18, -0.84) | |
| 11:117186252 | COSM1742837 | T>K | A:26 | (80.56, 65.39, -0.79) |
| 11:117167628 | A>D | A:43 | (82.59, 62.15, 13.52) | |
| 11:117167629 | A>T | A:43 | (82.59, 62.15, 13.52) | |
| 11:117167620 | rs552768527 | P>S | A:46 | (87.72, 54.94, 12.57) |
| 11:117167607 | R>H | A:50 | (83.57, 61.58, 2.88) | |
| 11:117167608 | R>C | A:50 | (83.57, 61.58, 2.88) | |
| 11:117166049 | rs138138981 | R>Q | A:61 | (68.59, 76.33, 10.41) |
| 11:117166050 | R>W | A:61 | (68.59, 76.33, 10.41) | |
| 11:117166040 | rs528086428 COSM3443773 |
R>Q | A:64 | (68.66, 73.18, 21.44) |
| 11:117166041 | rs200733909 | R>W | A:64 | (68.66, 73.18, 21.44) |
| 11:117165986 | T>I | A:82 | (68.29, 71.87, 9.51) | |
| 11:117165968 | P>L | A:88 | (74.67, 65.73, -7.36) | |
| 11:117165969 | rs151257620 | P>T | A:88 | (74.67, 65.73, -7.36) |
| 11:117165954 | V>I | A:93 | (66.92, 70.68, -6.44) | |
| 11:117165944 | R>H | A:96 | (66.60, 73.71, 5.14) | |
| 11:117165945 | R>C | A:96 | (66.60, 73.71, 5.14) | |
| 11:117165936 | I>V | A:99 | (70.45, 66.38, 8.97) | |
| 11:117165921 | E>Q | A:104 | (77.71, 57.29, 20.13) | |
| 11:117165900 | rs373228705 | N>H | A:111 | (85.95, 48.27, 8.36) |
| 11:117165893 | S>F | A:113 | (82.79, 51.27, 3.76) | |
| 11:117165851 | A>G | A:127 | (60.47, 58.30, 12.35) | |
| 11:117164718 | rs371627608 | D>N | A:131 | (55.27, 61.34, 13.46) |
| 11:117164699 | F>S | A:137 | (60.95, 62.16, -1.33) | |
| 11:117164664 | L>V | A:149 | (57.77, 59.32, -8.13) | |
| 11:117164652 | Q>K | A:153 | (68.12, 49.60, -11.92) | |
| 11:117164601 | V>I | A:170 | (77.45, 46.91, -7.00) | |
| 11:117164598 | rs200695125 | G>R | A:171 | (74.96, 48.93, -9.29) |
| 11:117163889 | D>N | A:180 | (64.14, 55.48, -17.33) | |
| 11:117163874 | T>A | A:185 | (61.61, 44.89, -19.90) | |
| 11:117163846 | R>Q | A:194 | (47.88, 47.19, 4.34) | |
| 11:117163847 | rs571508692 | R>W | A:194 | (47.88, 47.19, 4.34) |
| 11:117163839 | E>D | A:196 | (51.33, 55.65, 3.89) | |
| 11:117163823 | rs145565779 | I>V | A:202 | (49.56, 42.08, 0.60) |
| 11:117163816 | rs28989503 | V>A | A:204 | (48.50, 36.47, -2.27) |
| 11:117163813 | rs368294217 COSM541077 |
R>Q | A:205 | (49.88, 31.58, -4.85) |
| 11:117163811 | rs569348980 | V>M | A:206 | (54.16, 31.46, -2.47) |
| 11:117163794 | rs140050693 | Q>H | A:211 | (54.94, 23.20, -6.15) |
| 11:117163795 | Q>R | A:211 | (54.94, 23.20, -6.15) | |
| 11:117163782 | M>I | A:215 | (50.71, 28.75, 3.97) | |
| 11:117162498 | G>D | A:230 | (68.83, 47.71, 2.99) | |
| 11:117162487 | L>F | A:234 | (63.66, 37.19, 1.40) | |
| 11:117162454 | V>L | A:245 | (63.44, 25.68, 3.56) | |
| 11:117162445 | I>V | A:248 | (63.99, 25.08, -1.48) | |
| 11:117161764 | T>M | A:254 | (70.62, 16.31, -6.67) | |
| 11:117161752 | P>L | A:258 | (74.70, 21.58, 5.68) | |
| 11:117161750 | D>H | A:259 | (70.57, 21.85, 8.51) | |
| 11:117161746 | G>D | A:260 | (73.26, 25.71, 8.36) | |
| 11:117161729 | Q>E | A:266 | (77.46, 26.63, 6.58) | |
| 11:117161717 | W>R | A:270 | (79.03, 25.06, -5.06) | |
| 11:117161704 | rs149860623 | T>S | A:274 | (80.84, 24.40, -10.53) |
| 11:117161662 | M>T | A:288 | (47.30, 42.83, -3.71) | |
| 11:117161654 | V>I | A:291 | (41.67, 45.06, -9.44) | |
| 11:117161635 | R>H | A:297 | (53.75, 35.20, -11.70) | |
| 11:117161636 | rs376235700 | R>C | A:297 | (53.75, 35.20, -11.70) |
| 11:117161626 | I>T | A:300 | (63.32, 35.22, -7.90) | |
| 11:117161366 | R>W | A:307 | (74.88, 36.66, -0.51) | |
| 11:117161360 | V>M | A:309 | (80.74, 35.47, -0.21) | |
| 11:117161353 | D>V | A:311 | (86.76, 38.32, -0.04) | |
| 11:117161341 | COSM3443771 | S>Y | A:315 | (88.86, 29.77, 0.11) |
| 11:117161332 | D>V | A:318 | (82.45, 30.21, -6.39) | |
| 11:117161258 | rs533069014 | V>I | A:343 | (61.10, 49.09, -8.07) |
| 11:117161242 | rs368258749 | A>V | A:348 | (50.99, 59.51, -5.46) |
| 11:117161239 | rs371130142 | R>Q | A:349 | (48.74, 57.55, -8.28) |
| 11:117161230 | I>T | A:352 | (54.92, 49.36, -5.25) | |
| 11:117161228 | G>S | A:353 | (56.20, 48.77, -9.11) | |
| 11:117160518 | rs535219476 | D>N | A:363 | (70.66, 32.87, -19.06) |
| 11:117160499 | A>V | A:369 | (59.33, 37.69, -14.20) | |
| 11:117160500 | A>T | A:369 | (59.33, 37.69, -14.20) | |
| 11:117160474 | L>F | A:377 | (39.62, 34.77, -4.51) | |
| 11:117160452 | N>D | A:385 | (44.39, 43.71, 11.14) | |
| 11:117160449 | I>V | A:386 | (45.17, 42.47, 13.68) |