General Structure Information
| PDB ID | 1tzs |
| HGNC Gene Label(s) | CTSE |
| Structure Name | crystal structure of an activation intermediate of cathepsin e |
| Resolution | 2.35Å |
| Reference | AUTH N.OSTERMANN,B.GERHARTZ,S.WORPENBERG,J.TRAPPE,J.EDERTITL CRYSTAL STRUCTURE OF AN ACTIVATION INTERMEDIATE OFTITL 2 CATHEPSIN EREF J.MOL.BIOL. V. 342 889 2004REFN ISSN 0022-2836PMID 15342244DOI 10.1016/J.JMB.2004.07.073 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 322 |
| Number Of SNVs | 103 |
| Number Of Permutations | 41430 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.017 |
| p-value | 0.769 |
COSMIC
| Number Of Residues | 322 |
| Number Of SNVs | 5 |
| Number Of Permutations | 431 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.2 |
| p-value | 0.177 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 103 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 26.0 |
| K Statistic | 0.389 |
| p-value | 0.113 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:206318463 | rs376437283 | L>S | A:21 | (-9.98, 4.30, 32.24) |
| 1:206318467 | D>E | A:22 | (-10.94, 5.03, 27.39) | |
| 1:206319101 | rs199692903 | M>V | A:23 | (-10.04, 2.85, 23.64) |
| 1:206319161 | rs566299574 | D>N | A:43 | (2.91, 5.40, 28.64) |
| 1:206319176 | N>D | A:48 | (7.36, 5.76, 36.31) | |
| 1:206319179 | L>F | A:49 | (6.89, 0.37, 36.55) | |
| 1:206319184 | rs138037642 | W>C | A:50 | (1.51, 1.92, 38.46) |
| 1:206319189 | P>L | A:52 | (-1.03, -2.81, 42.13) | |
| 1:206319192 | rs377729989 | S>F | A:53 | (0.08, -3.07, 46.64) |
| 1:206319194 | rs193920960 COSM1178693 COSM1178694 |
V>M | A:54 | (-0.90, -6.37, 48.76) |
| 1:206319201 | C>F | A:56 | (-4.18, -1.61, 48.15) | |
| 1:206319206 | rs141769778 | S>C | A:58 | (-9.15, -0.11, 47.69) |
| 1:206319207 | rs554998250 | S>I | A:58 | (-9.15, -0.11, 47.69) |
| 1:206319210 | P>L | A:59 | (-12.30, -1.19, 46.91) | |
| 1:206319212 | COSM425141 COSM1473317 |
A>T | A:60 | (-10.31, -0.76, 43.34) |
| 1:206319216 | C>F | A:61 | (-7.25, -2.79, 44.26) | |
| 1:206320204 | rs199778962 COSM2215819 COSM2215820 |
T>M | A:63 | (-10.45, -6.27, 40.87) |
| 1:206320209 | S>G | A:65 | (-3.10, -8.04, 40.07) | |
| 1:206320227 | Q>K | A:71 | (5.47, -14.78, 48.08) | |
| 1:206320228 | Q>P | A:71 | (5.47, -14.78, 48.08) | |
| 1:206320233 | S>R | A:73 | (13.31, -14.13, 46.46) | |
| 1:206320271 | rs368769973 | Q>H | A:85 | (-0.08, 13.72, 38.99) |
| 1:206320278 | rs531080133 | T>A | A:88 | (-6.41, 13.70, 37.48) |
| 1:206320293 | rs200653780 | G>R | A:93 | (3.88, 4.78, 47.66) |
| 1:206320306 | A>D | A:97 | (13.23, -3.93, 43.80) | |
| 1:206320308 | rs376548326 COSM3418667 COSM3418668 |
D>N | A:98 | (12.42, -7.48, 41.74) |
| 1:206325251 | rs546059282 | T>N | A:106 | (14.95, -10.23, 32.63) |
| 1:206325253 | rs141251493 | V>M | A:107 | (15.35, -6.12, 34.14) |
| 1:206325259 | rs79881900 | G>S | A:109 | (16.75, -4.13, 39.76) |
| 1:206325277 | rs201675695 | S>G | A:115 | (0.16, 1.35, 44.58) |
| 1:206325286 | E>Q | A:118 | (-8.16, 5.39, 45.97) | |
| 1:206325292 | G>S | A:120 | (-10.22, 4.93, 41.80) | |
| 1:206325311 | A>V | A:126 | (-9.71, -1.64, 34.71) | |
| 1:206325319 | D>H | A:129 | (-3.11, -4.18, 36.72) | |
| 1:206325325 | I>F | A:131 | (1.38, 2.20, 33.88) | |
| 1:206325331 | G>S | A:133 | (7.09, 3.73, 31.00) | |
| 1:206325337 | rs201853489 | G>R | A:135 | (10.12, 7.66, 28.64) |
| 1:206325338 | G>V | A:135 | (10.12, 7.66, 28.64) | |
| 1:206325343 | P>T | A:137 | (14.59, 9.85, 32.45) | |
| 1:206325364 | V>M | A:144 | (13.17, 5.87, 39.19) | |
| 1:206325379 | rs372617617 COSM1748113 COSM1748114 |
D>N | A:149 | (16.82, 3.62, 30.52) |
| 1:206325387 | M>I | A:151 | (16.31, -2.48, 28.60) | |
| 1:206325401 | L>P | A:156 | (18.95, -6.51, 27.35) | |
| 1:206325403 | COSM425142 COSM1473318 |
V>L | A:157 | (18.72, -3.90, 23.41) |
| 1:206325406 | D>Y | A:158 | (20.61, -5.36, 19.50) | |
| 1:206325412 | P>S | A:160 | (18.95, 2.30, 20.98) | |
| 1:206325413 | rs370057695 | P>L | A:160 | (18.95, 2.30, 20.98) |
| 1:206325417 | rs368537831 | M>I | A:161 | (15.19, 1.19, 18.89) |
| 1:206325421 | S>P | A:163 | (8.61, -0.31, 18.00) | |
| 1:206327477 | N>K | A:169 | (-8.36, -4.70, 11.83) | |
| 1:206327478 | P>T | A:170 | (-9.88, -7.37, 14.29) | |
| 1:206327491 | A>V | A:174 | (-4.14, -9.12, 16.92) | |
| 1:206327494 | G>A | A:175 | (-0.96, -7.89, 15.74) | |
| 1:206327497 | S>N | A:176 | (-0.79, -5.56, 18.04) | |
| 1:206327499 | E>K | A:177 | (4.13, -6.06, 17.80) | |
| 1:206327507 | I>M | A:179 | (9.42, -4.20, 18.86) | |
| 1:206327520 | rs546775363 | D>N | A:184 | (8.77, -5.38, 11.64) |
| 1:206327526 | rs145082936 | S>P | A:186 | (6.15, -5.99, 8.19) |
| 1:206327534 | COSM902912 COSM1202638 |
F>L | A:188 | (7.37, -0.01, 7.89) |
| 1:206327539 | G>E | A:190 | (8.57, 2.38, 3.23) | |
| 1:206327551 | W>L | A:194 | (13.92, 8.70, 11.68) | |
| 1:206327553 | rs61742549 | V>F | A:195 | (11.08, 13.42, 13.93) |
| 1:206327556 | rs145461754 | P>T | A:196 | (13.38, 15.77, 15.74) |
| 1:206327577 | W>R | A:203 | (9.86, 9.83, 22.86) | |
| 1:206327592 | D>N | A:208 | (5.26, 22.28, 10.61) | |
| 1:206327593 | D>V | A:208 | (5.26, 22.28, 10.61) | |
| 1:206328733 | G>D | A:214 | (-5.81, 21.39, 2.63) | |
| 1:206328742 | rs529689738 | M>T | A:217 | (-7.39, 25.32, 10.41) |
| 1:206328766 | rs538359671 | A>V | A:225 | (3.85, 17.41, 20.20) |
| 1:206328768 | I>V | A:226 | (3.32, 14.20, 22.69) | |
| 1:206328778 | T>R | A:229 | (1.19, 4.86, 23.55) | |
| 1:206328784 | T>N | A:231 | (-3.29, 8.73, 24.46) | |
| 1:206328789 | rs141402875 | L>F | A:233 | (-8.07, 9.72, 21.12) |
| 1:206328792 | I>V | A:234 | (-5.71, 12.85, 18.28) | |
| 1:206328793 | I>N | A:234 | (-5.71, 12.85, 18.28) | |
| 1:206328807 | rs370816867 | D>N | A:239 | (-9.68, 25.83, 21.93) |
| 1:206328831 | A>T | A:247 | (-14.73, 21.09, 10.55) | |
| 1:206328835 | rs199845829 | I>T | A:248 | (-14.75, 17.09, 11.02) |
| 1:206328841 | A>E | A:250 | (-18.74, 16.86, 14.74) | |
| 1:206328844 | A>V | A:251 | (-21.47, 16.44, 17.31) | |
| 1:206328846 | P>S | A:252 | (-22.12, 17.65, 20.42) | |
| 1:206328849 | V>M | A:253 | (-23.52, 13.83, 22.50) | |
| 1:206328856 | rs554550981 | G>A | A:255 | (-19.60, 13.55, 25.88) |
| 1:206328963 | Y>C | A:257 | (-17.60, 15.92, 20.16) | |
| 1:206328986 | rs201012612 | N>Y | A:265 | (-18.01, 9.94, 1.56) |
| 1:206328987 | rs140920478 | N>S | A:265 | (-18.01, 9.94, 1.56) |
| 1:206328993 | M>T | A:267 | (-15.94, 13.84, 6.34) | |
| 1:206328996 | rs144940381 | P>L | A:268 | (-12.69, 16.49, 5.86) |
| 1:206328998 | D>N | A:269 | (-8.59, 14.80, 4.68) | |
| 1:206329005 | rs6503 | T>I | A:271 | (-2.95, 16.96, 7.56) |
| 1:206329010 | rs142526470 | T>S | A:273 | (2.90, 18.95, 8.78) |
| 1:206329013 | I>V | A:274 | (5.60, 16.05, 11.10) | |
| 1:206329019 | rs560890490 | G>R | A:276 | (7.54, 18.42, 6.05) |
| 1:206329028 | Y>H | A:279 | (2.65, 12.45, 8.69) | |
| 1:206329038 | S>N | A:282 | (-8.96, 9.52, 6.59) | |
| 1:206329043 | T>S | A:284 | (-11.75, 6.09, 7.76) | |
| 1:206329047 | A>V | A:285 | (-8.79, 7.21, 10.43) | |
| 1:206329053 | rs28548020 | T>N | A:287 | (-13.80, 7.73, 12.69) |
| 1:206331021 | D>N | A:290 | (-17.18, 1.84, 19.52) | |
| 1:206331046 | C>S | A:298 | (-19.74, 6.99, 14.21) | |
| 1:206331060 | Q>E | A:303 | (-10.66, 14.40, 23.43) | |
| 1:206331081 | P>T | A:310 | (5.53, 24.59, 31.70) | |
| 1:206331082 | P>L | A:310 | (5.53, 24.59, 31.70) | |
| 1:206331091 | P>L | A:313 | (0.44, 24.02, 25.15) | |
| 1:206331108 | D>N | A:319 | (-3.54, 4.96, 19.95) | |
| 1:206331117 | I>F | A:322 | (0.17, 5.08, 16.47) | |
| 1:206331121 | R>Q | A:323 | (-4.76, 2.78, 15.25) | |
| 1:206331145 | R>H | A:331 | (16.60, 7.08, 24.52) | |
| 1:206331150 | N>Y | A:333 | (19.75, 9.04, 17.34) | |
| 1:206331166 | L>Q | A:338 | (6.74, 8.31, 11.55) | |
| 1:206331169 | rs144147533 | A>V | A:339 | (5.35, 5.13, 8.56) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:206325322 | COSM3710529 | G>R | A:130 | (-0.55, -0.91, 35.15) |
| 1:206325379 | COSM1748114 | D>H | A:149 | (16.82, 3.62, 30.52) |
| 1:206327534 | COSM1202638 | F>L | A:188 | (7.37, -0.01, 7.89) |
| 1:206331145 | COSM4617273 | R>H | A:331 | (16.60, 7.08, 24.52) |
| 1:206331162 | COSM1185710 | G>R | A:337 | (9.54, 7.19, 13.43) |