General Structure Information
| PDB ID | 3h5c |
| HGNC Gene Label(s) | SERPINA10 |
| Structure Name | x-ray structure of protein z-protein z inhibitor complex |
| Resolution | 3.26Å |
| Reference | AUTH X.HUANG,A.DEMENTIEV,S.T.OLSON,P.G.GETTINSTITL BASIS FOR THE SPECIFICITY AND ACTIVATION OF THE SERPINTITL 2 PROTEIN Z-DEPENDENT PROTEINASE INHIBITOR (ZPI) AS ANTITL 3 INHIBITOR OF MEMBRANE-ASSOCIATED FACTOR XA.REF J.BIOL.CHEM. V. 285 20399 2010REFN ISSN 0021-9258PMID 20427285DOI 10.1074/JBC.M110.112748 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 384 |
| Number Of SNVs | 119 |
| Number Of Permutations | 56901 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.04 |
| p-value | 0.679 |
COSMIC
| Number Of Residues | 384 |
| Number Of SNVs | 12 |
| Number Of Permutations | 11855 |
| Optimal Distance Threshold | 26.0 |
| K Statistic | 0.242 |
| p-value | 0.007 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 119 |
| Number Of COSMIC SNVs | 10 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | -0.267 |
| p-value | 0.002 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:94756747 | E>Q | A:41 | (-31.72, 20.28, -27.15) | |
| 14:94756739 | rs143455939 | E>D | A:43 | (-36.58, 20.89, -25.42) |
| 14:94756715 | R>S | A:51 | (-40.44, 31.82, -22.35) | |
| 14:94756716 | R>T | A:51 | (-40.44, 31.82, -22.35) | |
| 14:94756712 | Q>H | A:52 | (-45.29, 34.68, -24.49) | |
| 14:94756704 | A>V | A:55 | (-48.37, 33.54, -19.54) | |
| 14:94756705 | A>T | A:55 | (-48.37, 33.54, -19.54) | |
| 14:94756690 | N>D | A:60 | (-56.89, 34.18, -19.78) | |
| 14:94756683 | G>A | A:62 | (-57.48, 34.06, -13.74) | |
| 14:94756684 | rs200686754 | G>R | A:62 | (-57.48, 34.06, -13.74) |
| 14:94756678 | S>G | A:64 | (-61.89, 32.71, -15.16) | |
| 14:94756671 | L>P | A:66 | (-61.79, 37.18, -10.84) | |
| 14:94756668 | rs143859072 | R>Q | A:67 | (-64.56, 36.09, -14.66) |
| 14:94756656 | M>T | A:71 | (-70.89, 35.13, -9.08) | |
| 14:94756648 | D>N | A:74 | (-69.23, 42.12, -4.08) | |
| 14:94756642 | rs529472591 | N>H | A:76 | (-61.82, 42.79, -0.36) |
| 14:94756639 | rs367779044 | M>V | A:77 | (-60.82, 39.38, -4.54) |
| 14:94756633 | COSM3499277 | F>L | A:79 | (-56.52, 35.08, -7.02) |
| 14:94756616 | M>I | A:84 | (-53.63, 27.87, -8.47) | |
| 14:94756617 | M>T | A:84 | (-53.63, 27.87, -8.47) | |
| 14:94756610 | L>F | A:86 | (-47.53, 25.51, -9.83) | |
| 14:94756599 | G>A | A:90 | (-48.77, 18.47, -10.67) | |
| 14:94756597 | rs372663141 | L>V | A:91 | (-52.15, 17.26, -9.50) |
| 14:94756593 | COSM554191 | M>T | A:92 | (-51.53, 17.51, -15.11) |
| 14:94756575 | rs370404211 | P>L | A:98 | (-59.93, 11.50, -18.77) |
| 14:94756549 | L>I | A:107 | (-55.39, 25.37, -16.54) | |
| 14:94756536 | rs149890122 | A>V | A:111 | (-52.39, 24.59, -27.01) |
| 14:94756537 | A>T | A:111 | (-52.39, 24.59, -27.01) | |
| 14:94756528 | P>T | A:114 | (-46.06, 19.00, -25.18) | |
| 14:94756525 | rs570701118 | T>A | A:115 | (-42.96, 15.81, -24.57) |
| 14:94756519 | P>A | A:117 | (-43.09, 16.27, -18.30) | |
| 14:94756516 | rs56137907 | G>R | A:118 | (-42.46, 19.99, -19.52) |
| 14:94756507 | rs375354725 | P>A | A:121 | (-40.86, 22.24, -15.95) |
| 14:94756503 | rs147367426 | S>Y | A:122 | (-42.25, 25.88, -17.15) |
| 14:94756479 | T>N | A:130 | (-38.98, 33.99, -8.49) | |
| 14:94756480 | T>P | A:130 | (-38.98, 33.99, -8.49) | |
| 14:94756471 | COSM3782859 | R>C | A:133 | (-32.03, 35.55, -7.63) |
| 14:94756467 | N>S | A:134 | (-35.54, 38.02, -6.99) | |
| 14:94756458 | rs2232699 | L>Q | A:137 | (-39.24, 40.21, -5.02) |
| 14:94756453 | L>F | A:139 | (-41.59, 36.03, -2.77) | |
| 14:94756450 | rs2232700 | T>S | A:140 | (-42.93, 33.95, 1.13) |
| 14:94756437 | rs202176196 | F>Y | A:144 | (-46.99, 22.18, 2.01) |
| 14:94756425 | COSM3744490 | H>R | A:148 | (-54.07, 8.48, 3.91) |
| 14:94756416 | F>S | A:151 | (-50.13, 5.66, -0.38) | |
| 14:94756413 | rs367993455 | D>V | A:152 | (-47.77, 3.99, -2.70) |
| 14:94756414 | D>Y | A:152 | (-47.77, 3.99, -2.70) | |
| 14:94756411 | rs143232539 | V>I | A:153 | (-45.99, 6.96, -3.74) |
| 14:94756398 | F>S | A:157 | (-43.87, 10.28, -8.94) | |
| 14:94756394 | F>L | A:158 | (-41.79, 10.79, -5.89) | |
| 14:94756392 | N>S | A:159 | (-38.64, 11.69, -7.40) | |
| 14:94756386 | rs370084509 | S>Y | A:161 | (-42.08, 15.32, -8.40) |
| 14:94756377 | Y>C | A:164 | (-40.06, 18.36, -12.33) | |
| 14:94756378 | Y>N | A:164 | (-40.06, 18.36, -12.33) | |
| 14:94756374 | F>S | A:165 | (-42.33, 20.46, -7.13) | |
| 14:94756372 | D>N | A:166 | (-39.31, 21.07, -4.14) | |
| 14:94756362 | C>S | A:169 | (-45.04, 14.89, 0.52) | |
| 14:94756359 | V>A | A:170 | (-46.67, 14.80, 4.72) | |
| 14:94756360 | rs533103231 COSM3401542 |
V>M | A:170 | (-46.67, 14.80, 4.72) |
| 14:94756356 | P>R | A:171 | (-47.55, 11.11, 5.04) | |
| 14:94756353 | M>T | A:172 | (-50.85, 12.83, 7.78) | |
| 14:94756344 | rs2232701 | R>H | A:175 | (-57.93, 9.30, 11.89) |
| 14:94756345 | rs200117551 COSM959149 |
R>C | A:175 | (-57.93, 9.30, 11.89) |
| 14:94756322 | R>S | A:182 | (-51.47, 20.16, 14.58) | |
| 14:94756303 | N>D | A:189 | (-46.14, 28.23, 11.94) | |
| 14:94756290 | rs145668993 | R>Q | A:193 | (-39.71, 32.16, 8.99) |
| 14:94756291 | rs570402881 | R>W | A:193 | (-39.71, 32.16, 8.99) |
| 14:94756285 | K>E | A:195 | (-46.99, 34.30, 8.70) | |
| 14:94756270 | F>L | A:200 | (-55.63, 23.59, 7.99) | |
| 14:94756230 | D>G | A:213 | (-50.32, 27.39, -2.50) | |
| 14:94756221 | L>W | A:216 | (-46.55, 35.75, 1.51) | |
| 14:94754887 | L>W | A:222 | (-38.58, 51.99, -8.01) | |
| 14:94754884 | T>I | A:223 | (-40.73, 55.54, -6.10) | |
| 14:94754875 | D>G | A:226 | (-43.15, 61.26, 1.74) | |
| 14:94754873 | P>S | A:227 | (-44.43, 59.53, 5.04) | |
| 14:94754870 | V>F | A:228 | (-44.77, 63.83, 5.32) | |
| 14:94754861 | COSM1371771 | E>K | A:231 | (-53.08, 63.24, 4.50) |
| 14:94754857 | rs61737402 | V>A | A:232 | (-56.98, 60.57, 6.85) |
| 14:94754854 | D>A | A:233 | (-58.85, 61.01, 2.41) | |
| 14:94754855 | D>N | A:233 | (-58.85, 61.01, 2.41) | |
| 14:94754851 | COSM1371770 | T>N | A:234 | (-62.57, 60.49, 1.57) |
| 14:94754852 | T>A | A:234 | (-62.57, 60.49, 1.57) | |
| 14:94754845 | H>R | A:236 | (-66.09, 57.63, -2.15) | |
| 14:94754846 | H>Y | A:236 | (-66.09, 57.63, -2.15) | |
| 14:94754839 | D>G | A:238 | (-70.83, 53.25, -2.20) | |
| 14:94754833 | Y>C | A:240 | (-75.77, 56.35, -2.43) | |
| 14:94754827 | T>I | A:242 | (-68.31, 57.26, 2.69) | |
| 14:94754816 | rs371403716 | P>S | A:246 | (-55.18, 55.74, 5.23) |
| 14:94754808 | rs375976787 | M>I | A:248 | (-50.13, 56.47, 0.21) |
| 14:94754804 | rs2232708 | G>S | A:250 | (-47.32, 60.81, -5.03) |
| 14:94754794 | COSM4053215 | K>T | A:253 | (-41.76, 60.78, -13.39) |
| 14:94754789 | A>P | A:255 | (-47.02, 54.82, -16.15) | |
| 14:94754782 | T>N | A:257 | (-53.52, 54.35, -19.78) | |
| 14:94754783 | T>P | A:257 | (-53.52, 54.35, -19.78) | |
| 14:94754778 | F>L | A:258 | (-58.70, 56.82, -19.94) | |
| 14:94754764 | R>H | A:263 | (-64.32, 56.45, -19.97) | |
| 14:94754765 | rs267604109 COSM136982 |
R>C | A:263 | (-64.32, 56.45, -19.97) |
| 14:94754741 | COSM1225268 | Y>H | A:271 | (-43.31, 46.55, -6.47) |
| 14:94754725 | rs199663033 | T>I | A:276 | (-45.39, 45.62, -11.84) |
| 14:94754719 | L>P | A:278 | (-51.51, 47.13, -13.33) | |
| 14:94754720 | L>V | A:278 | (-51.51, 47.13, -13.33) | |
| 14:94754717 | V>L | A:279 | (-54.06, 50.27, -10.70) | |
| 14:94754692 | rs142696914 | D>V | A:287 | (-69.45, 49.27, -12.25) |
| 14:94754693 | D>N | A:287 | (-69.45, 49.27, -12.25) | |
| 14:94754688 | H>Q | A:288 | (-66.03, 47.81, -9.45) | |
| 14:94754684 | rs148392580 | A>T | A:290 | (-68.29, 45.44, -15.13) |
| 14:94754671 | Y>C | A:294 | (-65.92, 43.25, -21.19) | |
| 14:94754645 | W>R | A:303 | (-55.29, 48.24, -20.70) | |
| 14:94754638 | R>K | A:305 | (-49.89, 47.88, -26.83) | |
| 14:94754635 | N>S | A:306 | (-51.49, 52.30, -25.31) | |
| 14:94754632 | rs144277580 | M>T | A:307 | (-48.72, 52.54, -20.90) |
| 14:94752575 | P>L | A:317 | (-54.99, 53.37, -0.82) | |
| 14:94752559 | rs147506307 | D>E | A:322 | (-55.30, 37.49, 4.42) |
| 14:94752545 | M>T | A:327 | (-59.38, 27.22, -5.01) | |
| 14:94752523 | rs372623896 | M>I | A:334 | (-63.87, 26.66, -13.76) |
| 14:94752513 | rs139982545 | R>G | A:338 | (-63.48, 12.44, -13.77) |
| 14:94752504 | rs368871361 | S>P | A:341 | (-64.20, 12.54, -8.26) |
| 14:94752500 | P>H | A:342 | (-64.81, 9.41, -6.94) | |
| 14:94752485 | S>N | A:347 | (-52.67, 5.27, -11.06) | |
| 14:94752449 | S>F | A:359 | (-60.05, 16.19, -0.90) | |
| 14:94752446 | R>K | A:360 | (-59.45, 20.55, 1.80) | |
| 14:94750486 | rs2232710 | Q>R | A:363 | (-54.40, 29.90, -2.54) |
| 14:94750481 | rs142013081 | T>A | A:365 | (-53.01, 34.93, -0.31) |
| 14:94750475 | I>V | A:367 | (-50.77, 41.74, -0.37) | |
| 14:94750459 | R>K | A:372 | (-41.71, 50.41, 4.96) | |
| 14:94750453 | rs370961499 | T>I | A:374 | (-39.32, 45.39, 2.79) |
| 14:94750451 | E>K | A:375 | (-37.45, 49.59, 2.13) | |
| 14:94750432 | L>S | A:381 | (-41.21, 64.51, -2.34) | |
| 14:94750408 | rs117152910 | M>R | A:389 | (-50.82, 71.32, -13.65) |
| 14:94750406 | rs201447546 | P>S | A:390 | (-49.92, 68.13, -12.74) |
| 14:94750384 | rs190358836 | R>Q | A:397 | (-62.88, 55.64, -7.22) |
| 14:94750385 | COSM4053212 | R>W | A:397 | (-62.88, 55.64, -7.22) |
| 14:94750377 | rs546304706 | F>L | A:399 | (-58.63, 49.27, -6.38) |
| 14:94750369 | M>K | A:402 | (-52.83, 43.06, -12.15) | |
| 14:94750370 | rs202084602 | M>V | A:402 | (-52.83, 43.06, -12.15) |
| 14:94750361 | rs145648775 | E>K | A:405 | (-43.16, 39.53, -13.86) |
| 14:94750357 | E>G | A:406 | (-41.74, 43.65, -16.00) | |
| 14:94750348 | rs201969429 COSM1225269 |
G>A | A:409 | (-45.75, 37.91, -17.41) |
| 14:94750336 | rs75367241 | F>Y | A:413 | (-50.36, 38.60, -6.35) |
| 14:94750315 | COSM3420138 | P>L | A:420 | (-59.50, 49.85, 2.34) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:94756750 | COSM147837 | S>G | A:40 | (-32.90, 17.39, -25.08) |
| 14:94756741 | COSM328523 | E>K | A:43 | (-36.58, 20.89, -25.42) |
| 14:94756666 | COSM3706448 | K>Q | A:68 | (-66.95, 31.51, -10.89) |
| 14:94756405 | COSM3499269 | E>K | A:155 | (-40.00, 5.92, -7.03) |
| 14:94756352 | COSM3499267 | M>I | A:172 | (-50.85, 12.83, 7.78) |
| 14:94756345 | COSM959149 | R>C | A:175 | (-57.93, 9.30, 11.89) |
| 14:94756279 | COSM1707807 | P>S | A:197 | (-50.77, 31.16, 11.90) |
| 14:94756237 | COSM959147 | L>I | A:211 | (-52.96, 20.66, -2.26) |
| 14:94754837 | COSM1608088 | K>E | A:239 | (-72.19, 56.46, -5.95) |
| 14:94754765 | COSM136982 | R>C | A:263 | (-64.32, 56.45, -19.97) |
| 14:94754734 | COSM1686209 | G>E | A:273 | (-37.42, 43.09, -9.61) |
| 14:94754631 | COSM1707805 | M>I | A:307 | (-48.72, 52.54, -20.90) |