General Structure Information
| PDB ID | 2ybt |
| HGNC Gene Label(s) | CHIA |
| Structure Name | crystal structure of human acidic chitinase in complex with bisdionin c |
| Resolution | 2.22Å |
| Reference | AUTH T.E.SUTHERLAND,O.A.ANDERSEN,M.BETOU,I.M.EGGLESTON,AUTH 2 R.M.MAIZELS,D.VAN AALTEN,J.E.ALLENTITL ANALYZING AIRWAY INFLAMMATION WITH CHEMICAL BIOLOGY:TITL 2 DISSECTION OF ACIDIC MAMMALIAN CHITINASE FUNCTION WITH ATITL 3 SELECTIVE DRUG-LIKE INHIBITOR.REF CHEM.BIOL. V. 18 569 2011REFN ISSN 1074-5521PMID 21609838DOI 10.1016/J.CHEMBIOL.2011.02.017 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 377 |
| Number Of SNVs | 119 |
| Number Of Permutations | 50374 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.238 |
| p-value | 0.727 |
COSMIC
| Number Of Residues | 377 |
| Number Of SNVs | 9 |
| Number Of Permutations | 1392 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.028 |
| p-value | 0.961 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 119 |
| Number Of COSMIC SNVs | 8 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | -0.049 |
| p-value | 0.784 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:111854821 | Y>C | B:22 | (-17.40, -17.17, -60.44) | |
| 1:111854833 | C>S | B:26 | (-10.62, -5.40, -66.06) | |
| 1:111854839 | rs369742654 | F>C | B:28 | (-7.42, 1.81, -68.32) |
| 1:111854841 | T>P | B:29 | (-3.80, 1.14, -69.71) | |
| 1:111854849 | W>C | B:31 | (-0.00, 2.64, -71.17) | |
| 1:111854854 | Q>R | B:33 | (-4.11, 8.28, -74.05) | |
| 1:111854855 | Q>H | B:33 | (-4.11, 8.28, -74.05) | |
| 1:111854859 | rs61752461 | R>W | B:35 | (-2.51, 2.50, -77.95) |
| 1:111854860 | R>Q | B:35 | (-2.51, 2.50, -77.95) | |
| 1:111854865 | G>C | B:37 | (-6.55, 5.56, -83.93) | |
| 1:111854874 | rs373325850 COSM279882 |
R>C | B:40 | (-7.38, 7.31, -78.40) |
| 1:111854875 | rs188897015 | R>H | B:40 | (-7.38, 7.31, -78.40) |
| 1:111854882 | rs376456634 | M>I | B:42 | (-10.09, 6.91, -73.67) |
| 1:111854889 | rs41282492 | N>D | B:45 | (-13.87, 3.31, -75.12) |
| 1:111854895 | rs41282494 | D>N | B:47 | (-19.22, -1.82, -71.51) |
| 1:111854897 | D>E | B:47 | (-19.22, -1.82, -71.51) | |
| 1:111854898 | P>S | B:48 | (-20.35, -0.33, -68.24) | |
| 1:111854899 | P>R | B:48 | (-20.35, -0.33, -68.24) | |
| 1:111854911 | T>S | B:52 | (-17.08, -6.92, -61.84) | |
| 1:111854913 | H>D | B:53 | (-14.20, -5.61, -60.11) | |
| 1:111854922 | Y>H | B:56 | (-6.24, 4.17, -63.89) | |
| 1:111854923 | Y>F | B:56 | (-6.24, 4.17, -63.89) | |
| 1:111854925 | rs182022651 | A>T | B:57 | (-3.04, 1.53, -64.89) |
| 1:111854926 | A>V | B:57 | (-3.04, 1.53, -64.89) | |
| 1:111854935 | G>E | B:60 | (2.50, 6.78, -58.20) | |
| 1:111854938 | rs41282496 | R>M | B:61 | (5.40, 6.89, -55.05) |
| 1:111854949 | rs375891484 | E>K | B:65 | (2.71, 11.15, -50.85) |
| 1:111854954 | I>M | B:66 | (-0.39, 8.12, -54.22) | |
| 1:111854955 | rs186163063 | T>S | B:67 | (1.03, 10.37, -57.70) |
| 1:111854964 | COSM1332666 | E>K | B:70 | (-0.00, 10.65, -67.70) |
| 1:111854991 | A>T | B:79 | (-14.48, 8.98, -66.65) | |
| 1:111857164 | N>I | B:87 | (-22.95, -0.48, -63.01) | |
| 1:111857173 | L>P | B:90 | (-18.69, -0.95, -61.36) | |
| 1:111857208 | rs3818822 | G>R | B:102 | (9.73, -0.87, -59.73) |
| 1:111857902 | M>V | B:109 | (6.93, 2.92, -48.55) | |
| 1:111857904 | M>I | B:109 | (6.93, 2.92, -48.55) | |
| 1:111857923 | rs543573136 | R>C | B:116 | (4.92, 1.57, -43.14) |
| 1:111857945 | rs377228357 | V>A | B:123 | (-4.07, 6.12, -50.36) |
| 1:111857947 | I>V | B:124 | (-7.24, 7.06, -47.36) | |
| 1:111857948 | I>N | B:124 | (-7.24, 7.06, -47.36) | |
| 1:111857951 | rs61756687 | K>R | B:125 | (-6.50, 12.33, -49.27) |
| 1:111857960 | rs140031055 | R>H | B:128 | (-12.76, 7.72, -50.30) |
| 1:111857964 | rs200273853 | Q>H | B:129 | (-9.92, 13.62, -54.04) |
| 1:111857977 | rs551479392 COSM3471182 COSM3471181 |
G>R | B:134 | (-9.30, 0.87, -54.16) |
| 1:111857986 | F>L | B:137 | (-0.41, -2.84, -53.41) | |
| 1:111857987 | F>S | B:137 | (-0.41, -2.84, -53.41) | |
| 1:111857996 | rs536523940 | E>G | B:140 | (6.50, -6.02, -60.76) |
| 1:111858010 | rs188294966 | R>C | B:145 | (13.09, -5.63, -60.54) |
| 1:111858020 | rs373203725 | P>L | B:148 | (15.68, -5.96, -50.13) |
| 1:111858022 | P>S | B:149 | (15.63, -9.59, -48.16) | |
| 1:111858044 | T>S | B:156 | (2.96, -8.41, -44.98) | |
| 1:111858053 | rs199990081 | V>G | B:159 | (-1.01, -5.21, -46.75) |
| 1:111858055 | Q>K | B:160 | (-1.54, -5.90, -41.34) | |
| 1:111858057 | Q>H | B:160 | (-1.54, -5.90, -41.34) | |
| 1:111860310 | R>H | B:163 | (-7.97, -5.03, -44.38) | |
| 1:111860335 | K>N | B:171 | (-15.60, 2.51, -38.34) | |
| 1:111860337 | rs144679403 | Q>R | B:172 | (-15.26, 7.95, -40.74) |
| 1:111860338 | rs560538725 | Q>H | B:172 | (-15.26, 7.95, -40.74) |
| 1:111860339 | rs116430435 | I>F | B:173 | (-17.37, 7.17, -44.64) |
| 1:111860352 | rs569441017 | R>T | B:177 | (-13.21, -2.40, -46.65) |
| 1:111860357 | M>L | B:179 | (-11.09, -3.14, -51.99) | |
| 1:111860358 | M>R | B:179 | (-11.09, -3.14, -51.99) | |
| 1:111860364 | rs377181497 | T>I | B:181 | (-5.85, -5.78, -54.26) |
| 1:111860369 | A>S | B:183 | (-0.51, -8.10, -58.35) | |
| 1:111860387 | rs369860168 COSM893788 COSM893787 |
S>P | B:189 | (11.65, -17.58, -57.48) |
| 1:111860402 | rs199874052 | G>S | B:194 | (7.90, -12.23, -51.84) |
| 1:111860410 | E>D | B:196 | (4.52, -13.59, -45.69) | |
| 1:111860637 | Y>C | B:212 | (-0.04, -12.60, -67.54) | |
| 1:111860639 | rs200134913 | D>N | B:213 | (4.35, -12.82, -69.67) |
| 1:111860642 | COSM1332670 COSM1332669 |
L>F | B:214 | (4.47, -17.91, -68.62) |
| 1:111860664 | Y>C | B:221 | (14.35, -22.06, -77.39) | |
| 1:111860679 | S>I | B:226 | (-1.07, -18.42, -70.99) | |
| 1:111860687 | Y>H | B:229 | (-3.07, -27.85, -68.88) | |
| 1:111860696 | P>S | B:232 | (4.91, -32.79, -73.20) | |
| 1:111860697 | rs376497990 | P>L | B:232 | (4.91, -32.79, -73.20) |
| 1:111860702 | rs147103194 | D>N | B:234 | (7.94, -28.67, -70.34) |
| 1:111861115 | D>H | B:244 | (-2.44, -25.99, -63.27) | |
| 1:111861116 | D>G | B:244 | (-2.44, -25.99, -63.27) | |
| 1:111861119 | Y>C | B:245 | (2.89, -25.71, -60.92) | |
| 1:111861142 | rs181434663 | N>Y | B:253 | (1.47, -22.65, -50.72) |
| 1:111861143 | N>S | B:253 | (1.47, -22.65, -50.72) | |
| 1:111861144 | N>K | B:253 | (1.47, -22.65, -50.72) | |
| 1:111861151 | P>S | B:256 | (-7.84, -18.56, -50.29) | |
| 1:111861167 | I>T | B:261 | (-8.30, -13.74, -59.45) | |
| 1:111861169 | rs367730751 COSM527401 COSM527400 |
V>I | B:262 | (-7.04, -16.43, -63.08) |
| 1:111861185 | Y>C | B:267 | (-0.91, -10.11, -74.10) | |
| 1:111861190 | H>Y | B:269 | (4.54, -12.59, -76.15) | |
| 1:111861196 | rs78293817 | F>V | B:271 | (8.52, -15.50, -80.77) |
| 1:111861199 | I>F | B:272 | (12.05, -13.79, -85.29) | |
| 1:111861212 | rs371506503 | P>L | B:276 | (11.45, -20.69, -91.49) |
| 1:111861217 | rs143732960 | N>D | B:278 | (11.67, -25.35, -87.67) |
| 1:111861218 | N>S | B:278 | (11.67, -25.35, -87.67) | |
| 1:111861221 | rs527938483 | T>I | B:279 | (6.77, -23.93, -86.94) |
| 1:111861224 | G>E | B:280 | (7.02, -25.17, -83.24) | |
| 1:111861230 | G>A | B:282 | (10.56, -24.93, -79.52) | |
| 1:111861233 | rs150309903 | A>V | B:283 | (11.50, -23.38, -81.97) |
| 1:111861235 | rs563717656 | P>S | B:284 | (14.64, -22.19, -82.78) |
| 1:111861238 | T>A | B:285 | (14.04, -17.91, -81.64) | |
| 1:111861239 | T>I | B:285 | (14.04, -17.91, -81.64) | |
| 1:111861245 | G>D | B:287 | (13.78, -12.75, -81.53) | |
| 1:111861248 | rs61748620 | A>V | B:288 | (11.53, -10.25, -81.12) |
| 1:111861256 | rs549528699 COSM1560106 COSM1560105 |
A>S | B:291 | (5.86, -4.10, -83.71) |
| 1:111861268 | rs79500525 | A>T | B:295 | (0.96, -0.95, -79.47) |
| 1:111861274 | rs139420194 | E>K | B:297 | (5.16, -2.85, -77.42) |
| 1:111861286 | rs534909365 | W>R | B:301 | (1.54, -8.98, -82.85) |
| 1:111861298 | rs201266629 | E>K | B:305 | (-2.19, -6.01, -83.40) |
| 1:111861299 | E>V | B:305 | (-2.19, -6.01, -83.40) | |
| 1:111861749 | rs142736771 | T>I | B:308 | (-4.52, -8.21, -89.08) |
| 1:111861763 | G>R | B:313 | (-2.78, -15.92, -93.83) | |
| 1:111861776 | rs139812869 | G>E | B:317 | (-2.46, -23.34, -84.54) |
| 1:111861781 | D>H | B:319 | (-0.58, -26.16, -77.94) | |
| 1:111861787 | P>S | B:321 | (-0.90, -30.07, -75.04) | |
| 1:111861794 | E>A | B:323 | (-5.77, -26.46, -74.33) | |
| 1:111861799 | P>S | B:325 | (-3.48, -20.40, -79.75) | |
| 1:111861803 | Y>C | B:326 | (0.64, -22.31, -83.10) | |
| 1:111861814 | G>S | B:330 | (7.41, -16.98, -92.11) | |
| 1:111861820 | rs375947945 | V>M | B:332 | (6.61, -14.21, -87.77) |
| 1:111861821 | rs528976050 | V>A | B:332 | (6.61, -14.21, -87.77) |
| 1:111861825 | rs144182515 | W>C | B:333 | (5.37, -18.73, -83.04) |
| 1:111861826 | V>F | B:334 | (2.14, -15.65, -82.39) | |
| 1:111861841 | rs2275253 | I>V | B:339 | (-12.91, -17.25, -78.10) |
| 1:111861848 | rs189146821 | S>T | B:341 | (-8.38, -20.38, -74.91) |
| 1:111861854 | D>G | B:343 | (-14.20, -21.22, -72.90) | |
| 1:111861856 | rs374270214 | I>V | B:344 | (-10.69, -24.24, -72.28) |
| 1:111861949 | A>T | B:346 | (-13.15, -20.69, -67.70) | |
| 1:111861950 | A>V | B:346 | (-13.15, -20.69, -67.70) | |
| 1:111861974 | rs2275254 | F>S | B:354 | (-9.62, -20.67, -58.61) |
| 1:111861982 | rs201691527 COSM1639430 COSM1639429 |
A>T | B:357 | (-10.97, -13.28, -63.73) |
| 1:111861985 | rs142800191 | M>V | B:358 | (-7.02, -10.78, -64.21) |
| 1:111861995 | rs373985805 | A>V | B:361 | (-6.12, -5.49, -71.28) |
| 1:111862010 | rs141843885 | D>G | B:366 | (-11.71, -6.14, -80.99) |
| 1:111862016 | T>I | B:368 | (-13.90, -1.80, -82.30) | |
| 1:111862024 | F>L | B:371 | (-9.31, -4.99, -86.02) | |
| 1:111862027 | C>G | B:372 | (-11.75, -10.03, -85.18) | |
| 1:111862041 | K>N | B:376 | (-18.29, -4.72, -79.56) | |
| 1:111862042 | rs36011905 | F>L | B:377 | (-14.97, -5.67, -75.62) |
| 1:111862061 | L>P | B:383 | (-14.41, -14.50, -69.62) | |
| 1:111862064 | rs143969273 | K>R | B:384 | (-19.94, -11.44, -69.06) |
| 1:111862069 | rs147768976 | A>S | B:386 | (-18.47, -18.47, -68.74) |
| 1:111862070 | A>V | B:386 | (-18.47, -18.47, -68.74) | |
| 1:111862075 | rs371701062 | G>S | B:388 | (-22.37, -15.96, -65.16) |
| 1:111862844 | A>V | B:396 | (-28.37, 3.21, -62.04) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:111854925 | COSM674369 | A>T | B:57 | (-3.04, 1.53, -64.89) |
| 1:111854964 | COSM1332666 | E>K | B:70 | (-0.00, 10.65, -67.70) |
| 1:111854982 | COSM414182 | L>V | B:76 | (-8.77, 9.88, -67.44) |
| 1:111857208 | COSM4985312 | G>R | B:102 | (9.73, -0.87, -59.73) |
| 1:111857209 | COSM3711119 | G>A | B:102 | (9.73, -0.87, -59.73) |
| 1:111857977 | COSM3471181 | G>R | B:134 | (-9.30, 0.87, -54.16) |
| 1:111860672 | COSM1718407 | E>K | B:224 | (2.27, -20.28, -75.75) |
| 1:111861202 | COSM1667808 | L>M | B:273 | (11.11, -18.33, -86.71) |
| 1:111861974 | COSM3996744 | F>S | B:354 | (-9.62, -20.67, -58.61) |
| 1:111862019 | COSM1162831 | G>D | B:369 | (-15.03, -5.19, -83.70) |