General Structure Information
| PDB ID | 1lq8 |
| HGNC Gene Label(s) | SERPINA5 |
| Structure Name | crystal structure of cleaved protein c inhibitor |
| Resolution | 2.4Å |
| Reference | AUTH J.A.HUNTINGTON,M.KJELLBERG,J.STENFLOTITL CRYSTAL STRUCTURE OF PROTEIN C INHIBITOR PROVIDES INSIGHTSTITL 2 INTO HORMONE BINDING AND HEPARIN ACTIVATIONREF STRUCTURE V. 11 205 2003REFN ISSN 0969-2126PMID 12575940DOI 10.1016/S0969-2126(02)00944-9 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 330 |
| Number Of SNVs | 116 |
| Number Of Permutations | 51336 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.226 |
| p-value | 0.025 |
COSMIC
| Number Of Residues | 330 |
| Number Of SNVs | 5 |
| Number Of Permutations | 167 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.1 |
| p-value | 0.545 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 116 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.147 |
| p-value | 0.2 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:95053845 | T>I | G:30 | (26.72, 8.21, 66.00) | |
| 14:95053857 | Y>F | G:34 | (32.52, 13.26, 66.63) | |
| 14:95053862 | rs377000355 | A>T | G:36 | (36.44, 8.98, 69.74) |
| 14:95053863 | rs6118 | A>V | G:36 | (36.44, 8.98, 69.74) |
| 14:95053874 | rs139961453 | A>T | G:40 | (42.11, 10.91, 68.38) |
| 14:95053878 | rs377411406 | A>D | G:41 | (41.99, 14.18, 66.68) |
| 14:95053884 | rs372991959 COSM959215 |
S>N | G:43 | (42.75, 19.84, 65.51) |
| 14:95053890 | rs6115 | S>N | G:45 | (39.29, 17.99, 59.60) |
| 14:95053896 | F>S | G:47 | (33.32, 12.99, 56.93) | |
| 14:95053923 | rs148540452 | S>N | G:56 | (28.99, -2.88, 59.05) |
| 14:95053926 | L>P | G:57 | (28.62, -3.31, 63.41) | |
| 14:95053931 | rs377136799 | M>V | G:59 | (26.46, -6.98, 58.24) |
| 14:95053938 | S>F | G:61 | (25.86, -9.58, 64.17) | |
| 14:95053944 | rs543503063 | G>E | G:63 | (28.36, -14.21, 62.95) |
| 14:95053947 | A>D | G:64 | (27.93, -13.42, 66.06) | |
| 14:95053950 | rs370900582 | G>E | G:65 | (28.47, -14.78, 69.39) |
| 14:95053961 | K>E | G:69 | (26.02, -11.04, 69.40) | |
| 14:95053977 | E>V | G:74 | (25.54, -3.52, 74.41) | |
| 14:95053980 | rs2069976 | G>V | G:75 | (27.03, -0.38, 70.84) |
| 14:95053983 | L>P | G:76 | (24.59, -0.65, 67.84) | |
| 14:95053994 | L>V | G:80 | (19.70, -8.09, 75.57) | |
| 14:95053998 | Q>L | G:81 | (14.82, -8.36, 74.06) | |
| 14:95054012 | rs6119 | K>E | G:86 | (14.52, -9.93, 64.12) |
| 14:95054014 | K>N | G:86 | (14.52, -9.93, 64.12) | |
| 14:95054027 | G>R | G:91 | (15.56, -1.61, 58.78) | |
| 14:95054042 | L>F | G:96 | (18.97, -1.20, 51.33) | |
| 14:95054051 | rs200732424 | L>I | G:99 | (17.44, 3.79, 47.38) |
| 14:95054052 | L>P | G:99 | (17.44, 3.79, 47.38) | |
| 14:95054054 | N>D | G:100 | (13.94, 6.47, 45.07) | |
| 14:95054055 | rs144727156 | N>S | G:100 | (13.94, 6.47, 45.07) |
| 14:95054060 | rs6120 | P>S | G:102 | (19.49, 7.88, 40.26) |
| 14:95054061 | rs141840783 | P>L | G:102 | (19.49, 7.88, 40.26) |
| 14:95054081 | rs375246074 | S>G | G:109 | (23.66, 4.75, 47.05) |
| 14:95054084 | L>F | G:110 | (23.54, 2.31, 50.39) | |
| 14:95054087 | rs61761873 | G>S | G:111 | (26.09, -1.44, 49.70) |
| 14:95054088 | G>D | G:111 | (26.09, -1.44, 49.70) | |
| 14:95054105 | D>N | G:117 | (39.13, -17.63, 49.90) | |
| 14:95054106 | D>G | G:117 | (39.13, -17.63, 49.90) | |
| 14:95054120 | L>V | G:122 | (30.96, -19.15, 54.35) | |
| 14:95054135 | V>L | G:127 | (25.37, -16.13, 52.69) | |
| 14:95054141 | A>S | G:129 | (21.28, -13.02, 55.46) | |
| 14:95054151 | rs368796795 | T>M | G:132 | (17.80, -11.34, 52.41) |
| 14:95054162 | A>T | G:136 | (24.71, -9.15, 49.41) | |
| 14:95054175 | P>R | G:140 | (34.99, -15.19, 44.19) | |
| 14:95054181 | rs141645745 | N>I | G:142 | (43.24, -15.77, 45.37) |
| 14:95054186 | R>G | G:144 | (46.28, -17.42, 49.83) | |
| 14:95054192 | S>T | G:146 | (47.13, -10.08, 48.25) | |
| 14:95054195 | COSM959221 | A>T | G:147 | (47.62, -7.72, 45.30) |
| 14:95054199 | COSM227109 | G>E | G:148 | (44.97, -8.83, 43.62) |
| 14:95054204 | M>V | G:150 | (44.45, -5.08, 47.39) | |
| 14:95054217 | rs150604673 | N>S | G:154 | (40.09, -1.26, 45.94) |
| 14:95054232 | rs374457624 | K>R | G:159 | (31.52, 0.36, 40.24) |
| 14:95054234 | Q>E | G:160 | (29.59, 0.93, 43.85) | |
| 14:95054238 | rs140729195 | T>M | G:161 | (32.16, 5.35, 45.29) |
| 14:95054256 | D>V | G:167 | (42.90, 3.31, 47.61) | |
| 14:95054265 | K>R | G:170 | (46.20, 0.54, 51.52) | |
| 14:95054269 | N>K | G:171 | (48.90, -3.01, 53.35) | |
| 14:95054273 | rs367832464 COSM3499410 |
D>N | G:173 | (47.22, -10.59, 55.59) |
| 14:95054278 | S>R | G:174 | (47.62, -13.57, 52.91) | |
| 14:95054283 | rs555139768 | A>V | G:176 | (42.70, -13.11, 54.60) |
| 14:95054288 | V>M | G:178 | (36.41, -12.83, 54.72) | |
| 14:95054303 | rs75250001 | Y>H | G:183 | (28.33, 0.67, 48.58) |
| 14:95054306 | I>V | G:184 | (27.54, 5.56, 51.06) | |
| 14:95054307 | rs202233497 | I>N | G:184 | (27.54, 5.56, 51.06) |
| 14:95056380 | K>E | G:189 | (21.59, 19.65, 42.46) | |
| 14:95056381 | K>T | G:189 | (21.59, 19.65, 42.46) | |
| 14:95056408 | rs536859945 | G>D | G:198 | (29.23, 35.37, 45.78) |
| 14:95056423 | rs372907091 | D>G | G:203 | (39.35, 35.52, 56.79) |
| 14:95056438 | rs61740460 | S>L | G:208 | (42.18, 33.14, 67.67) |
| 14:95056440 | rs140138746 | E>Q | G:209 | (45.66, 33.41, 67.19) |
| 14:95056443 | rs144652298 | T>A | G:210 | (45.17, 30.19, 62.96) |
| 14:95056446 | V>M | G:211 | (44.06, 32.71, 59.46) | |
| 14:95056450 | V>A | G:212 | (42.89, 30.36, 56.34) | |
| 14:95056452 | R>W | G:213 | (41.79, 34.23, 52.70) | |
| 14:95056458 | P>T | G:215 | (36.30, 29.78, 49.40) | |
| 14:95056463 | M>I | G:216 | (32.87, 32.37, 52.15) | |
| 14:95056465 | M>K | G:217 | (29.59, 29.86, 49.69) | |
| 14:95056466 | rs542251287 | M>I | G:217 | (29.59, 29.86, 49.69) |
| 14:95056468 | S>N | G:218 | (26.66, 33.80, 49.57) | |
| 14:95056471 | rs141881639 | R>H | G:219 | (21.55, 31.26, 49.62) |
| 14:95056473 | rs373021004 | E>Q | G:220 | (19.37, 36.58, 51.59) |
| 14:95056476 | D>N | G:221 | (16.53, 32.25, 52.10) | |
| 14:95056480 | Q>R | G:222 | (13.43, 31.70, 54.85) | |
| 14:95056481 | rs374829634 | Q>H | G:222 | (13.43, 31.70, 54.85) |
| 14:95056486 | H>R | G:224 | (14.73, 25.13, 58.53) | |
| 14:95056501 | rs201469061 COSM959227 COSM4053267 |
R>Q | G:229 | (20.25, 29.69, 74.57) |
| 14:95056506 | rs369529015 | L>F | G:231 | (24.93, 22.78, 73.41) |
| 14:95056524 | G>R | G:237 | (19.36, 24.17, 57.24) | |
| 14:95056531 | P>L | G:239 | (17.66, 22.27, 51.55) | |
| 14:95056539 | G>C | G:242 | (15.29, 15.87, 48.32) | |
| 14:95056549 | COSM323268 | T>M | G:245 | (19.08, 17.89, 55.31) |
| 14:95056567 | P>L | G:251 | (30.09, 26.62, 67.63) | |
| 14:95056575 | G>R | G:254 | (34.77, 28.15, 72.72) | |
| 14:95056583 | rs141064706 | M>I | G:256 | (33.50, 22.87, 69.20) |
| 14:95056588 | rs370721154 | Q>R | G:258 | (30.05, 22.96, 75.43) |
| 14:95056608 | E>K | G:265 | (20.06, 10.59, 68.53) | |
| 14:95056612 | K>R | G:266 | (17.08, 13.61, 72.80) | |
| 14:95056615 | T>M | G:267 | (20.37, 17.11, 70.69) | |
| 14:95056621 | R>M | G:269 | (15.29, 13.30, 66.96) | |
| 14:95056628 | W>C | G:271 | (19.80, 20.53, 67.00) | |
| 14:95056634 | K>N | G:273 | (11.04, 19.00, 67.44) | |
| 14:95056635 | M>V | G:274 | (12.98, 23.43, 68.31) | |
| 14:95056645 | K>R | G:277 | (11.82, 28.94, 58.13) | |
| 14:95057099 | Y>H | G:283 | (28.01, 34.83, 54.22) | |
| 14:95057102 | L>F | G:284 | (29.00, 27.92, 53.75) | |
| 14:95057112 | F>S | G:287 | (33.45, 21.96, 52.56) | |
| 14:95057118 | I>T | G:289 | (36.49, 17.18, 54.41) | |
| 14:95057127 | rs140870466 | S>F | G:292 | (40.88, 7.59, 57.35) |
| 14:95057133 | Q>R | G:294 | (42.24, 1.80, 61.21) | |
| 14:95057148 | L>H | G:299 | (34.88, 0.34, 67.77) | |
| 14:95057150 | P>S | G:300 | (37.34, -0.65, 71.46) | |
| 14:95057174 | F>L | G:308 | (38.39, -6.30, 66.68) | |
| 14:95057184 | rs558058210 | H>R | G:311 | (37.52, -14.69, 73.19) |
| 14:95057195 | S>A | G:315 | (30.39, -19.28, 64.77) | |
| 14:95057198 | rs3177818 | G>S | G:316 | (28.32, -17.92, 61.94) |
| 14:95057219 | rs146705260 | I>V | G:323 | (37.06, -16.19, 61.98) |
| 14:95058407 | A>V | G:332 | (35.35, 9.48, 53.94) | |
| 14:95058415 | rs540872965 | E>K | G:335 | (33.09, 17.41, 47.28) |
| 14:95058416 | E>G | G:335 | (33.09, 17.41, 47.28) | |
| 14:95058424 | E>K | G:338 | (28.52, 27.00, 44.70) | |
| 14:95058425 | E>G | G:338 | (28.52, 27.00, 44.70) | |
| 14:95058427 | S>P | G:339 | (25.48, 23.07, 43.30) | |
| 14:95058428 | rs141749677 | S>L | G:339 | (25.48, 23.07, 43.30) |
| 14:95058431 | rs551426115 | G>V | G:340 | (26.29, 21.00, 46.27) |
| 14:95058442 | A>S | G:344 | (31.55, 8.97, 50.11) | |
| 14:95058445 | A>T | G:345 | (31.73, 5.80, 52.09) | |
| 14:95058448 | rs570051474 | A>T | G:346 | (33.62, 2.69, 52.90) |
| 14:95058449 | rs372219406 | A>V | G:346 | (33.62, 2.69, 52.90) |
| 14:95058452 | rs150557947 | T>M | G:347 | (33.22, -0.19, 55.68) |
| 14:95058473 | R>K | G:354 | (45.95, -15.48, 66.21) | |
| 14:95058474 | R>S | G:354 | (45.95, -15.48, 66.21) | |
| 14:95058475 | S>T | G:355 | (41.06, -17.93, 66.86) | |
| 14:95058476 | rs567913291 | S>L | G:355 | (41.06, -17.93, 66.86) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:95053863 | COSM3736122 | A>V | G:36 | (36.44, 8.98, 69.74) |
| 14:95053874 | COSM4758970 | A>T | G:40 | (42.11, 10.91, 68.38) |
| 14:95053897 | COSM959217 | F>L | G:47 | (33.32, 12.99, 56.93) |
| 14:95056431 | COSM2253536 | V>M | G:206 | (41.50, 27.37, 62.72) |
| 14:95056549 | COSM323268 | T>M | G:245 | (19.08, 17.89, 55.31) |