General Structure Information
| PDB ID | 4if8 |
| HGNC Gene Label(s) | SERPINA12 |
| Structure Name | structure of vaspin |
| Resolution | 2.08Å |
| Reference | AUTH J.T.HEIKER,N.KLOTING,P.KOVACS,E.B.KUETTNER,N.STRATER,AUTH 2 S.SCHULTZ,M.KERN,M.STUMVOLL,M.BLUHER,A.G.BECK-SICKINGERTITL VASPIN INHIBITS KALLIKREIN 7 BY SERPIN MECHANISMREF CELL.MOL.LIFE SCI. V. 70 2569 2013REFN ISSN 1420-682XPMID 23370777DOI 10.1007/S00018-013-1258-8 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 367 |
| Number Of SNVs | 126 |
| Number Of Permutations | 61460 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.263 |
| p-value | 0.191 |
COSMIC
| Number Of Residues | 367 |
| Number Of SNVs | 11 |
| Number Of Permutations | 11265 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.255 |
| p-value | 0.294 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 126 |
| Number Of COSMIC SNVs | 8 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | -0.181 |
| p-value | 0.582 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:94964619 | W>S | A:39 | (35.93, 80.84, 1.86) | |
| 14:94964612 | rs549551822 | Q>H | A:41 | (33.27, 85.70, 6.10) |
| 14:94964614 | Q>K | A:41 | (33.27, 85.70, 6.10) | |
| 14:94964610 | rs370769652 | R>K | A:42 | (35.21, 86.15, 0.34) |
| 14:94964608 | M>V | A:43 | (31.58, 82.79, -0.12) | |
| 14:94964604 | A>V | A:44 | (28.06, 84.82, 2.54) | |
| 14:94964602 | A>S | A:45 | (28.23, 87.80, 0.59) | |
| 14:94964596 | E>K | A:47 | (23.95, 83.34, -1.23) | |
| 14:94964593 | L>F | A:48 | (23.52, 87.68, 1.31) | |
| 14:94964577 | M>T | A:53 | (19.66, 91.04, -7.36) | |
| 14:94964578 | rs149622388 | M>V | A:53 | (19.66, 91.04, -7.36) |
| 14:94964568 | G>V | A:56 | (14.54, 94.51, -5.74) | |
| 14:94964534 | rs138327766 | N>K | A:67 | (2.72, 104.08, -7.65) |
| 14:94964530 | G>C | A:69 | (5.07, 107.56, -12.87) | |
| 14:94964526 | R>K | A:70 | (5.33, 107.55, -7.94) | |
| 14:94964504 | L>F | A:77 | (22.19, 96.06, 0.93) | |
| 14:94964501 | S>R | A:78 | (20.05, 98.91, 3.38) | |
| 14:94964488 | rs577934046 | F>V | A:83 | (14.43, 94.09, 8.74) |
| 14:94964478 | L>P | A:86 | (15.86, 93.33, 13.78) | |
| 14:94964452 | rs201557850 | L>V | A:95 | (13.41, 84.93, 13.56) |
| 14:94964449 | D>N | A:96 | (10.95, 82.06, 11.66) | |
| 14:94964446 | E>K | A:97 | (7.79, 86.36, 8.93) | |
| 14:94964437 | Q>K | A:100 | (10.68, 82.60, 4.41) | |
| 14:94964427 | N>I | A:103 | (15.04, 84.41, 1.13) | |
| 14:94964414 | M>I | A:107 | (23.25, 80.92, 5.48) | |
| 14:94964412 | P>L | A:108 | (24.04, 79.28, 9.00) | |
| 14:94964401 | COSM78466 | L>F | A:112 | (23.15, 86.04, 8.12) |
| 14:94964395 | rs575676262 | E>K | A:114 | (30.09, 86.15, 9.92) |
| 14:94964383 | Y>N | A:118 | (33.00, 91.13, 3.79) | |
| 14:94964379 | rs199680231 | I>S | A:119 | (28.69, 93.49, 2.95) |
| 14:94964376 | I>T | A:120 | (28.64, 96.81, 6.31) | |
| 14:94964373 | H>R | A:121 | (34.55, 96.62, 7.18) | |
| 14:94964371 | E>K | A:122 | (35.00, 95.78, 2.75) | |
| 14:94964341 | L>M | A:132 | (29.12, 103.98, 1.39) | |
| 14:94964325 | rs368059461 | T>M | A:137 | (19.25, 103.95, 14.19) |
| 14:94964326 | rs200235508 | T>P | A:137 | (19.25, 103.95, 14.19) |
| 14:94964320 | F>L | A:139 | (15.67, 106.14, 17.32) | |
| 14:94964309 | COSM1516169 COSM1563029 |
Q>H | A:142 | (13.35, 107.49, 28.23) |
| 14:94964311 | rs17090972 | Q>K | A:142 | (13.35, 107.49, 28.23) |
| 14:94964307 | R>K | A:143 | (9.99, 105.73, 29.58) | |
| 14:94964302 | Q>K | A:145 | (15.93, 98.42, 30.36) | |
| 14:94964292 | R>H | A:148 | (26.21, 94.59, 27.68) | |
| 14:94964274 | A>V | A:154 | (24.47, 95.47, 16.50) | |
| 14:94964275 | rs570329034 | A>T | A:154 | (24.47, 95.47, 16.50) |
| 14:94964271 | K>R | A:155 | (28.68, 98.22, 17.95) | |
| 14:94964256 | A>V | A:160 | (24.10, 99.52, 14.96) | |
| 14:94964254 | rs557748313 COSM198566 |
E>K | A:161 | (23.13, 103.29, 16.30) |
| 14:94964247 | rs148004456 | I>T | A:163 | (19.38, 106.40, 20.35) |
| 14:94964223 | E>G | A:171 | (5.71, 116.58, 18.22) | |
| 14:94964220 | rs200309632 | M>T | A:172 | (10.85, 116.49, 21.19) |
| 14:94964208 | Q>P | A:176 | (15.80, 113.33, 18.81) | |
| 14:94964205 | I>N | A:177 | (14.91, 111.10, 15.02) | |
| 14:94964202 | N>S | A:178 | (15.02, 114.14, 11.71) | |
| 14:94964200 | D>Y | A:179 | (19.35, 116.68, 14.40) | |
| 14:94964181 | T>N | A:185 | (24.56, 111.97, 7.38) | |
| 14:94964178 | H>L | A:186 | (28.02, 114.96, 7.83) | |
| 14:94964175 | G>V | A:187 | (23.21, 116.26, 5.22) | |
| 14:94964176 | rs371646506 | G>R | A:187 | (23.21, 116.26, 5.22) |
| 14:94964170 | I>F | A:189 | (19.95, 111.40, 5.32) | |
| 14:94964162 | N>K | A:191 | (13.51, 115.54, 6.61) | |
| 14:94964160 | L>P | A:192 | (13.88, 109.90, 7.89) | |
| 14:94964145 | D>A | A:197 | (2.17, 106.25, 14.99) | |
| 14:94964127 | rs61758960 | L>P | A:203 | (11.71, 104.25, 15.13) |
| 14:94964113 | I>V | A:208 | (22.19, 104.37, 1.94) | |
| 14:94964103 | R>Q | A:211 | (28.09, 111.16, -2.46) | |
| 14:94962975 | W>R | A:214 | (31.62, 108.17, -12.63) | |
| 14:94962967 | H>Q | A:216 | (37.58, 107.49, -16.84) | |
| 14:94962968 | H>R | A:216 | (37.58, 107.49, -16.84) | |
| 14:94962959 | rs192558870 | D>G | A:219 | (34.17, 118.03, -19.23) |
| 14:94962960 | D>H | A:219 | (34.17, 118.03, -19.23) | |
| 14:94962948 | rs565964916 | T>A | A:223 | (27.39, 119.43, -19.05) |
| 14:94962936 | rs200726648 COSM1371824 |
D>Y | A:227 | (15.35, 117.40, -24.60) |
| 14:94962929 | F>S | A:229 | (11.94, 113.05, -24.53) | |
| 14:94962926 | L>P | A:230 | (8.64, 113.03, -19.23) | |
| 14:94962908 | rs375454807 | V>A | A:236 | (11.92, 118.25, -19.39) |
| 14:94962897 | rs74077729 | M>V | A:240 | (22.59, 115.49, -20.23) |
| 14:94962891 | F>L | A:242 | (29.15, 113.64, -24.04) | |
| 14:94962888 | COSM959192 | R>C | A:243 | (33.35, 110.01, -21.61) |
| 14:94962881 | rs372191209 COSM1516170 |
G>V | A:245 | (34.28, 105.97, -24.75) |
| 14:94962878 | I>T | A:246 | (36.05, 102.41, -23.77) | |
| 14:94962871 | Q>H | A:248 | (31.09, 96.90, -20.93) | |
| 14:94962872 | Q>P | A:248 | (31.09, 96.90, -20.93) | |
| 14:94962858 | rs368890770 COSM381399 |
D>N | A:253 | (16.42, 90.38, -27.90) |
| 14:94962852 | L>I | A:255 | (13.74, 92.50, -21.56) | |
| 14:94962849 | S>P | A:256 | (13.44, 95.41, -25.32) | |
| 14:94962839 | I>T | A:259 | (22.63, 97.19, -21.36) | |
| 14:94962840 | rs201400041 | I>L | A:259 | (22.63, 97.19, -21.36) |
| 14:94962834 | COSM1707820 | E>K | A:261 | (28.24, 98.71, -17.52) |
| 14:94962828 | P>S | A:263 | (32.98, 102.57, -14.52) | |
| 14:94962819 | rs139081781 | K>E | A:266 | (36.77, 102.09, -5.58) |
| 14:94962815 | N>S | A:267 | (35.38, 97.38, -7.90) | |
| 14:94962806 | A>V | A:270 | (26.67, 102.19, -13.35) | |
| 14:94962804 | I>V | A:271 | (24.02, 99.13, -14.50) | |
| 14:94962792 | rs372389745 | P>S | A:275 | (13.75, 101.08, -22.17) |
| 14:94962765 | E>K | A:284 | (9.08, 97.07, -14.88) | |
| 14:94962759 | G>R | A:286 | (11.28, 90.52, -16.46) | |
| 14:94962735 | R>G | A:294 | (20.07, 87.45, -20.12) | |
| 14:94962729 | K>Q | A:296 | (26.96, 91.07, -17.17) | |
| 14:94962713 | rs375255133 COSM959189 |
R>H | A:301 | (35.59, 97.52, -23.02) |
| 14:94962714 | rs143897400 | R>C | A:301 | (35.59, 97.52, -23.02) |
| 14:94956099 | V>A | A:304 | (30.10, 104.82, -26.35) | |
| 14:94956100 | rs144796398 | V>I | A:304 | (30.10, 104.82, -26.35) |
| 14:94956094 | V>M | A:306 | (27.63, 108.46, -23.10) | |
| 14:94956081 | R>I | A:310 | (23.80, 116.77, -13.53) | |
| 14:94956069 | rs200196811 | T>M | A:314 | (15.82, 110.93, -2.65) |
| 14:94956058 | D>N | A:318 | (6.47, 102.76, 5.37) | |
| 14:94956045 | T>I | A:322 | (7.71, 98.03, 1.57) | |
| 14:94956046 | T>A | A:322 | (7.71, 98.03, 1.57) | |
| 14:94956043 | L>V | A:323 | (8.46, 94.57, 4.22) | |
| 14:94956039 | rs376326499 | S>F | A:324 | (3.82, 93.76, 2.34) |
| 14:94956030 | rs142210723 | G>D | A:327 | (5.49, 88.89, 4.12) |
| 14:94956024 | S>F | A:329 | (4.15, 91.59, 9.60) | |
| 14:94956022 | COSM1225272 | K>E | A:330 | (4.72, 88.46, 12.70) |
| 14:94956009 | E>G | A:334 | (1.82, 92.44, 20.63) | |
| 14:94956003 | G>D | A:336 | (7.08, 88.18, 22.36) | |
| 14:94955998 | L>F | A:338 | (11.37, 91.69, 20.26) | |
| 14:94955992 | K>E | A:340 | (17.00, 88.87, 22.43) | |
| 14:94955985 | rs201580815 | A>V | A:342 | (13.63, 94.66, 25.43) |
| 14:94955986 | COSM172089 | A>T | A:342 | (13.63, 94.66, 25.43) |
| 14:94955982 | P>R | A:343 | (12.49, 93.92, 28.67) | |
| 14:94955976 | rs372459048 | R>H | A:345 | (4.38, 91.02, 28.79) |
| 14:94955962 | G>S | A:350 | (6.20, 100.77, 15.04) | |
| 14:94953827 | V>A | A:353 | (11.88, 104.55, 7.60) | |
| 14:94953823 | rs146053420 | H>Q | A:354 | (14.95, 103.05, 3.13) |
| 14:94953818 | rs142812237 | A>D | A:356 | (17.97, 106.57, -0.33) |
| 14:94953814 | rs372442452 | E>D | A:357 | (21.48, 110.19, -0.98) |
| 14:94953816 | E>K | A:357 | (21.48, 110.19, -0.98) | |
| 14:94953801 | E>K | A:362 | (30.38, 115.85, -13.72) | |
| 14:94953795 | G>C | A:364 | (36.59, 111.81, -11.22) | |
| 14:94953791 | T>M | A:365 | (39.78, 109.69, -11.95) | |
| 14:94953752 | M>T | A:378 | (39.68, 103.30, -31.62) | |
| 14:94953743 | P>Q | A:381 | (31.34, 106.04, -32.06) | |
| 14:94953740 | L>P | A:382 | (28.06, 103.00, -30.32) | |
| 14:94953738 | V>F | A:383 | (24.88, 106.61, -29.55) | |
| 14:94953728 | I>K | A:386 | (20.11, 108.00, -20.82) | |
| 14:94953720 | rs558052104 | P>T | A:389 | (12.15, 106.63, -19.05) |
| 14:94953705 | rs34519784 | I>V | A:394 | (24.41, 101.29, -8.20) |
| 14:94953697 | COSM2253438 | S>R | A:396 | (29.20, 95.97, -5.86) |
| 14:94953664 | rs200929043 | K>N | A:407 | (11.38, 103.76, -12.15) |
| 14:94953662 | rs371939249 | I>T | A:408 | (14.79, 107.39, -13.25) |
| 14:94953660 | V>F | A:409 | (10.37, 108.80, -14.65) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:94964581 | COSM39440 | N>D | A:52 | (20.22, 92.12, -2.64) |
| 14:94964400 | COSM1371827 | L>P | A:112 | (23.15, 86.04, 8.12) |
| 14:94964357 | COSM1749049 | K>N | A:126 | (35.15, 109.46, 5.01) |
| 14:94964310 | COSM24394 | Q>R | A:142 | (13.35, 107.49, 28.23) |
| 14:94964270 | COSM284899 | K>N | A:155 | (28.68, 98.22, 17.95) |
| 14:94964104 | COSM3793986 | R>G | A:211 | (28.09, 111.16, -2.46) |
| 14:94962888 | COSM959192 | R>C | A:243 | (33.35, 110.01, -21.61) |
| 14:94962881 | COSM1516170 | G>D | A:245 | (34.28, 105.97, -24.75) |
| 14:94962858 | COSM381399 | D>Y | A:253 | (16.42, 90.38, -27.90) |
| 14:94956084 | COSM1197815 | P>R | A:309 | (21.26, 112.14, -16.66) |
| 14:94955986 | COSM172089 | A>T | A:342 | (13.63, 94.66, 25.43) |