General Structure Information
| PDB ID | 2arq |
| HGNC Gene Label(s) | SERPINB2 |
| Structure Name | human plasminogen activator inhibitor-2.[loop (66-98) deletion mutant] complexed with peptide n-acetyl-teaaagdggvmtgr-oh |
| Resolution | 1.85Å |
| Reference | AUTH D.A.DI GIUSTO,A.P.SUTHERLAND,L.JANKOVA,S.J.HARROP,P.M.CURMI,AUTH 2 G.C.KINGTITL PLASMINOGEN ACTIVATOR INHIBITOR-2 IS HIGHLY TOLERANT TO P8TITL 2 RESIDUE SUBSTITUTION–IMPLICATIONS FOR SERPIN MECHANISTICTITL 3 MODEL AND PREDICTION OF NSSNP ACTIVITIESREF J.MOL.BIOL. V. 353 1069 2005REFN ISSN 0022-2836PMID 16214170DOI 10.1016/J.JMB.2005.09.008 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 360 |
| Number Of SNVs | 117 |
| Number Of Permutations | 57423 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.014 |
| p-value | 0.606 |
COSMIC
| Number Of Residues | 360 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1536 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.19 |
| p-value | 0.52 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 117 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 29.0 |
| K Statistic | -0.172 |
| p-value | 0.491 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 18:61558686 | D>G | A:3 | (18.65, 17.02, -3.46) | |
| 18:61558694 | rs151223481 | V>M | A:6 | (22.98, 17.67, -5.02) |
| 18:61558697 | rs553765342 COSM193070 |
A>T | A:7 | (26.44, 19.69, -4.32) |
| 18:61558704 | T>R | A:9 | (26.45, 14.52, -2.56) | |
| 18:61558706 | rs140416910 | L>F | A:10 | (28.05, 15.68, -6.59) |
| 18:61558709 | F>L | A:11 | (32.84, 17.75, -2.60) | |
| 18:61558713 | rs577423777 | A>V | A:12 | (31.53, 13.71, -1.55) |
| 18:61558729 | K>N | A:17 | (36.14, 8.74, -6.45) | |
| 18:61558730 | H>Y | A:18 | (40.15, 12.43, -6.13) | |
| 18:61558742 | A>P | A:22 | (45.79, 8.17, -1.43) | |
| 18:61558752 | rs150347076 | T>I | A:25 | (43.22, -0.32, 1.21) |
| 18:61558758 | N>S | A:27 | (40.19, 2.06, 7.63) | |
| 18:61558770 | S>Y | A:31 | (32.61, 15.11, 7.25) | |
| 18:61558788 | rs371130214 | S>Y | A:37 | (30.90, 24.51, 5.54) |
| 18:61558791 | T>N | A:38 | (35.04, 24.97, 5.61) | |
| 18:61558799 | rs563091911 | M>V | A:41 | (33.29, 29.78, 5.22) |
| 18:61558808 | M>V | A:44 | (32.15, 34.26, 1.08) | |
| 18:61558815 | S>F | A:46 | (36.76, 33.95, -3.51) | |
| 18:61558818 | R>K | A:47 | (36.40, 37.23, -5.03) | |
| 18:61558819 | R>S | A:47 | (36.40, 37.23, -5.03) | |
| 18:61558829 | rs572277697 | E>K | A:51 | (35.15, 32.73, -7.31) |
| 18:61562505 | Q>P | A:59 | (29.91, 20.21, -7.83) | |
| 18:61564347 | H>P | A:104 | (26.54, 31.59, 0.84) | |
| 18:61564349 | S>A | A:105 | (21.15, 30.89, 1.69) | |
| 18:61564358 | COSM1389502 | R>C | A:108 | (20.91, 30.69, 6.46) |
| 18:61564362 | rs563996931 | S>F | A:109 | (18.74, 26.08, 5.41) |
| 18:61564376 | I>V | A:114 | (21.65, 19.58, 10.40) | |
| 18:61564380 | N>S | A:115 | (21.53, 22.31, 14.15) | |
| 18:61564402 | L>F | A:122 | (23.00, 14.52, 20.38) | |
| 18:61564404 | rs572125133 | L>Q | A:123 | (23.08, 16.67, 15.20) |
| 18:61564407 | E>G | A:124 | (25.86, 19.97, 17.59) | |
| 18:61564410 | rs200846133 | S>T | A:125 | (26.89, 22.22, 12.93) |
| 18:61564424 | F>V | A:130 | (39.37, 31.35, 15.21) | |
| 18:61564428 | rs564113985 | G>D | A:131 | (41.64, 36.19, 13.67) |
| 18:61564431 | E>A | A:132 | (45.71, 38.54, 13.49) | |
| 18:61564434 | COSM4072958 | K>R | A:133 | (44.88, 40.90, 17.57) |
| 18:61564440 | rs147504740 | A>V | A:135 | (44.01, 42.34, 10.67) |
| 18:61564448 | R>W | A:138 | (36.15, 43.19, 2.28) | |
| 18:61564449 | R>Q | A:138 | (36.15, 43.19, 2.28) | |
| 18:61564967 | I>F | A:142 | (33.26, 39.57, 8.92) | |
| 18:61564985 | Y>H | A:148 | (24.28, 33.84, 4.75) | |
| 18:61564986 | rs367882625 | Y>C | A:148 | (24.28, 33.84, 4.75) |
| 18:61564988 | Y>H | A:149 | (28.25, 30.11, 6.69) | |
| 18:61564991 | rs145098902 | S>P | A:150 | (26.98, 31.47, 12.50) |
| 18:61564992 | rs200662224 | S>Y | A:150 | (26.98, 31.47, 12.50) |
| 18:61564994 | S>T | A:151 | (31.35, 32.36, 12.48) | |
| 18:61565001 | rs149666377 | P>L | A:153 | (33.77, 36.43, 14.19) |
| 18:61565005 | Q>H | A:154 | (37.43, 34.98, 18.13) | |
| 18:61565033 | E>K | A:164 | (48.81, 30.92, 22.90) | |
| 18:61565034 | rs374709649 | E>A | A:164 | (48.81, 30.92, 22.90) |
| 18:61565048 | I>V | A:169 | (41.65, 26.85, 17.43) | |
| 18:61565054 | rs148477234 | S>T | A:171 | (39.93, 23.86, 22.82) |
| 18:61565066 | T>A | A:175 | (34.21, 21.82, 23.42) | |
| 18:61565075 | K>Q | A:178 | (31.01, 16.84, 23.18) | |
| 18:61565078 | G>C | A:179 | (36.43, 15.26, 22.97) | |
| 18:61568989 | L>S | A:184 | (42.02, 19.87, 14.16) | |
| 18:61569015 | rs189135648 | D>N | A:193 | (52.72, 34.27, 8.28) |
| 18:61569039 | rs545766691 | A>S | A:201 | (32.18, 21.33, 13.99) |
| 18:61569054 | rs371932536 COSM1711486 |
G>R | A:206 | (23.00, 7.74, 18.49) |
| 18:61569058 | rs375227084 | K>M | A:207 | (20.56, 5.58, 20.84) |
| 18:61569084 | rs375079119 | L>V | A:216 | (29.22, -12.42, 23.64) |
| 18:61569093 | L>F | A:219 | (34.97, -13.07, 17.70) | |
| 18:61569103 | F>S | A:222 | (36.61, -8.63, 8.28) | |
| 18:61569104 | F>L | A:222 | (36.61, -8.63, 8.28) | |
| 18:61569106 | rs184826316 | R>H | A:223 | (38.80, -12.28, 3.98) |
| 18:61569108 | V>I | A:224 | (41.19, -7.81, 5.09) | |
| 18:61569115 | rs141012637 | S>L | A:226 | (43.46, -12.69, -0.37) |
| 18:61569639 | A>V | A:227 | (46.01, -12.98, 2.69) | |
| 18:61569645 | rs6100 | R>H | A:229 | (40.87, -14.95, 8.12) |
| 18:61569660 | M>K | A:234 | (30.03, -9.44, 14.59) | |
| 18:61569662 | M>L | A:235 | (26.79, -6.11, 16.05) | |
| 18:61569663 | rs149423477 | M>K | A:235 | (26.79, -6.11, 16.05) |
| 18:61569665 | COSM3692231 | Y>H | A:236 | (21.81, -11.03, 14.93) |
| 18:61569671 | R>C | A:238 | (15.67, -12.04, 12.38) | |
| 18:61569686 | I>L | A:243 | (17.48, -4.82, 1.73) | |
| 18:61569689 | rs369378667 | G>R | A:244 | (19.13, -4.06, -1.62) |
| 18:61569690 | rs547272442 | G>E | A:244 | (19.13, -4.06, -1.62) |
| 18:61569695 | rs147118804 | I>V | A:246 | (23.17, -1.46, -6.40) |
| 18:61569696 | I>T | A:246 | (23.17, -1.46, -6.40) | |
| 18:61569697 | rs138446596 | I>M | A:246 | (23.17, -1.46, -6.40) |
| 18:61569711 | rs78653022 | A>G | A:251 | (25.95, -4.16, -4.08) |
| 18:61569715 | Q>H | A:252 | (24.07, -6.29, -0.30) | |
| 18:61569716 | I>V | A:253 | (21.83, -1.09, -0.02) | |
| 18:61569725 | L>I | A:256 | (20.90, 0.50, 9.81) | |
| 18:61569731 | rs143996604 | Y>H | A:258 | (20.85, 5.93, 13.63) |
| 18:61569744 | V>D | A:262 | (19.52, 9.82, 11.08) | |
| 18:61569750 | M>T | A:264 | (24.28, 3.73, 8.70) | |
| 18:61569765 | P>L | A:269 | (30.61, -5.86, -1.82) | |
| 18:61569779 | COSM989528 | D>N | A:274 | (39.30, -7.58, -5.43) |
| 18:61569795 | L>W | A:279 | (35.64, -2.01, -2.28) | |
| 18:61570139 | E>G | A:283 | (35.63, 2.68, -4.33) | |
| 18:61570154 | Y>C | A:288 | (23.37, 11.95, -6.98) | |
| 18:61570178 | rs376370601 | S>N | A:296 | (16.40, 8.95, -1.48) |
| 18:61570181 | K>R | A:297 | (14.73, 7.60, -5.23) | |
| 18:61570185 | rs199563173 COSM3388485 |
D>E | A:298 | (11.13, 3.45, -2.44) |
| 18:61570192 | rs148635015 | A>T | A:301 | (12.27, -3.17, 0.34) |
| 18:61570199 | D>G | A:303 | (12.35, -8.13, 4.31) | |
| 18:61570214 | Y>C | A:308 | (25.25, -11.29, 11.19) | |
| 18:61570216 | I>L | A:309 | (27.46, -5.09, 11.84) | |
| 18:61570220 | P>H | A:310 | (31.18, -4.83, 12.50) | |
| 18:61570227 | rs541351737 | F>L | A:312 | (33.16, 0.15, 13.48) |
| 18:61570259 | I>T | A:323 | (42.99, 15.68, -2.52) | |
| 18:61570268 | S>N | A:326 | (43.46, 16.84, -7.66) | |
| 18:61570270 | M>L | A:327 | (39.24, 17.79, -6.96) | |
| 18:61570277 | M>T | A:329 | (40.73, 23.78, -5.45) | |
| 18:61570291 | N>H | A:334 | (49.20, 29.50, -5.92) | |
| 18:61570293 | N>K | A:334 | (49.20, 29.50, -5.92) | |
| 18:61570295 | K>R | A:335 | (52.25, 32.34, -1.84) | |
| 18:61570300 | COSM241563 | R>W | A:337 | (47.53, 32.16, -10.00) |
| 18:61570301 | rs373076588 COSM303181 |
R>Q | A:337 | (47.53, 32.16, -10.00) |
| 18:61570322 | COSM4072962 | S>L | A:344 | (41.48, 41.43, 1.96) |
| 18:61570324 | E>K | A:345 | (40.88, 45.85, 0.16) | |
| 18:61570325 | E>G | A:345 | (40.88, 45.85, 0.16) | |
| 18:61570334 | D>G | A:348 | (47.17, 39.71, 1.55) | |
| 18:61570336 | L>M | A:349 | (45.22, 36.07, 1.78) | |
| 18:61570337 | L>R | A:349 | (45.22, 36.07, 1.78) | |
| 18:61570367 | rs144131011 | M>T | A:359 | (35.18, 9.84, 15.49) |
| 18:61570372 | D>Y | A:361 | (31.93, 4.47, 18.40) | |
| 18:61570388 | rs368411636 | G>V | A:366 | (19.00, 1.41, 21.33) |
| 18:61570424 | T>I | A:378 | (12.11, -14.74, 20.39) | |
| 18:61570427 | rs201086309 | G>E | A:379 | (12.20, -18.29, 17.98) |
| 18:61570442 | G>E | A:384 | (15.56, -17.86, 3.68) | |
| 18:61570445 | G>D | A:385 | (16.29, -14.96, 3.70) | |
| 18:61570448 | rs534208233 | P>R | A:386 | (17.23, -11.68, 3.99) |
| 18:61570453 | F>L | A:388 | (24.16, -6.96, 5.20) | |
| 18:61570468 | P>T | A:393 | (35.40, -4.93, 2.93) | |
| 18:61570469 | P>L | A:393 | (35.40, -4.93, 2.93) | |
| 18:61570479 | F>L | A:396 | (30.43, 3.77, 6.57) | |
| 18:61570490 | H>R | A:400 | (19.76, 14.88, 7.83) | |
| 18:61570495 | I>V | A:402 | (14.89, 16.02, 6.27) | |
| 18:61570496 | I>T | A:402 | (14.89, 16.02, 6.27) | |
| 18:61570503 | rs6103 | N>K | A:404 | (19.58, 13.87, 1.01) |
| 18:61570528 | S>P | A:413 | (38.90, -2.47, 5.72) | |
| 18:61570529 | rs6104 | S>C | A:413 | (38.90, -2.47, 5.72) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 18:61565055 | COSM284902 | S>F | A:171 | (39.93, 23.86, 22.82) |
| 18:61569054 | COSM1711486 | G>R | A:206 | (23.00, 7.74, 18.49) |
| 18:61569055 | COSM233330 | G>E | A:206 | (23.00, 7.74, 18.49) |
| 18:61569106 | COSM1611358 | R>H | A:223 | (38.80, -12.28, 3.98) |
| 18:61569779 | COSM989528 | D>N | A:274 | (39.30, -7.58, -5.43) |
| 18:61570322 | COSM4072962 | S>L | A:344 | (41.48, 41.43, 1.96) |
| 18:61570503 | COSM4000448 | N>K | A:404 | (19.58, 13.87, 1.01) |
| 18:61570529 | COSM4000449 | S>C | A:413 | (38.90, -2.47, 5.72) |