General Structure Information
| PDB ID | 1yo8 |
| HGNC Gene Label(s) | THBS2 |
| Structure Name | structure of the c-terminal domain of human thrombospondin-2 |
| Resolution | 2.6Å |
| Reference | AUTH C.B.CARLSON,D.A.BERNSTEIN,D.S.ANNIS,T.M.MISENHEIMER,AUTH 2 B.L.HANNAH,D.F.MOSHER,J.L.KECKTITL STRUCTURE OF THE CALCIUM-RICH SIGNATURE DOMAIN OF HUMANTITL 2 THROMBOSPONDIN-2REF NAT.STRUCT.MOL.BIOL. V. 12 910 2005REFN ISSN 1545-9993PMID 16186819DOI 10.1038/NSMB997 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 616 |
| Number Of SNVs | 145 |
| Number Of Permutations | 62198 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.042 |
| p-value | 0.682 |
COSMIC
| Number Of Residues | 616 |
| Number Of SNVs | 14 |
| Number Of Permutations | 17894 |
| Optimal Distance Threshold | 31.0 |
| K Statistic | 0.549 |
| p-value | 0.155 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 145 |
| Number Of COSMIC SNVs | 12 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | -0.052 |
| p-value | 0.569 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 6:169633080 | rs375814540 | A>T | A:562 | (-37.25, 9.70, 82.41) |
| 6:169633069 | S>R | A:565 | (-42.21, 8.88, 90.51) | |
| 6:169633061 | P>L | A:568 | (-50.54, 7.77, 96.38) | |
| 6:169633062 | P>S | A:568 | (-50.54, 7.77, 96.38) | |
| 6:169633018 | L>F | A:582 | (-30.46, 19.59, 80.46) | |
| 6:169633013 | N>S | A:584 | (-36.49, 20.20, 84.23) | |
| 6:169632996 | rs199509417 | D>N | A:590 | (-28.36, 17.72, 74.10) |
| 6:169632875 | K>E | A:606 | (-7.42, 23.23, 64.98) | |
| 6:169632872 | V>M | A:607 | (-10.34, 24.91, 68.28) | |
| 6:169632847 | rs555199606 | P>L | A:615 | (-28.00, 11.30, 70.74) |
| 6:169632829 | P>H | A:621 | (-11.59, 10.60, 62.73) | |
| 6:169632815 | Y>H | A:626 | (-1.48, 12.46, 63.45) | |
| 6:169632800 | P>T | A:631 | (-13.71, 8.39, 70.85) | |
| 6:169632797 | COSM741105 | V>I | A:632 | (-18.10, 6.67, 70.88) |
| 6:169632794 | rs375967631 | G>R | A:633 | (-20.52, 8.48, 73.64) |
| 6:169632787 | G>A | A:635 | (-22.87, 10.77, 77.93) | |
| 6:169632788 | G>S | A:635 | (-22.87, 10.77, 77.93) | |
| 6:169632767 | E>K | A:642 | (-13.03, 7.35, 76.46) | |
| 6:169632293 | V>M | A:645 | (-4.45, 8.62, 71.67) | |
| 6:169632283 | P>L | A:648 | (2.81, 10.21, 65.13) | |
| 6:169632284 | P>S | A:648 | (2.81, 10.21, 65.13) | |
| 6:169632243 | K>N | A:661 | (13.85, -7.83, 50.34) | |
| 6:169632242 | H>Y | A:662 | (16.51, -5.77, 47.95) | |
| 6:169632238 | A>V | A:663 | (14.20, -1.12, 49.55) | |
| 6:169632217 | rs143976396 | H>L | A:670 | (4.42, 14.78, 60.22) |
| 6:169632214 | COSM1267754 | F>C | A:671 | (4.03, 18.41, 58.56) |
| 6:169632212 | S>C | A:672 | (5.68, 15.46, 53.44) | |
| 6:169632209 | rs146067041 | D>N | A:673 | (2.95, 15.80, 50.60) |
| 6:169632205 | P>H | A:674 | (4.81, 12.04, 50.16) | |
| 6:169632178 | G>D | A:683 | (22.88, -2.25, 43.81) | |
| 6:169632173 | A>T | A:685 | (17.41, -0.53, 40.44) | |
| 6:169632164 | G>R | A:688 | (10.85, 0.85, 44.96) | |
| 6:169632151 | G>E | A:692 | (17.42, -4.54, 40.79) | |
| 6:169632152 | G>R | A:692 | (17.42, -4.54, 40.79) | |
| 6:169632149 | COSM315902 | E>K | A:693 | (21.12, -6.64, 40.53) |
| 6:169632142 | S>L | A:695 | (26.43, -3.68, 38.46) | |
| 6:169632127 | W>L | A:700 | (19.25, 3.78, 34.32) | |
| 6:169632110 | V>F | A:706 | (8.05, -5.34, 36.22) | |
| 6:169632091 | rs182641150 | T>N | A:712 | (10.13, 7.89, 34.31) |
| 6:169632089 | Y>H | A:713 | (13.50, 8.62, 35.09) | |
| 6:169629753 | N>D | A:725 | (25.72, 5.29, 31.57) | |
| 6:169629747 | rs557791983 | G>R | A:727 | (22.06, 9.10, 30.92) |
| 6:169629735 | F>L | A:731 | (23.20, 10.06, 18.30) | |
| 6:169629723 | rs140600818 | G>R | A:735 | (21.44, 0.03, 22.72) |
| 6:169629714 | rs61736310 | D>N | A:738 | (27.13, 7.12, 23.70) |
| 6:169629707 | rs369510106 | C>Y | A:740 | (30.16, 1.60, 25.56) |
| 6:169629696 | D>N | A:744 | (28.73, 6.95, 19.21) | |
| 6:169629687 | D>Y | A:747 | (29.93, 6.50, 10.65) | |
| 6:169629684 | rs201813061 COSM2855174 |
G>S | A:748 | (32.55, 3.42, 10.81) |
| 6:169629681 | V>L | A:749 | (34.40, 6.31, 11.83) | |
| 6:169629675 | D>N | A:751 | (34.63, 7.20, 18.64) | |
| 6:169629672 | E>K | A:752 | (39.34, 7.25, 19.76) | |
| 6:169628365 | rs142094192 | Q>H | A:757 | (32.48, 11.40, 18.24) |
| 6:169628366 | Q>R | A:757 | (32.48, 11.40, 18.24) | |
| 6:169628349 | R>C | A:763 | (32.90, 11.60, 2.13) | |
| 6:169628337 | Y>D | A:767 | (37.80, 24.58, 4.69) | |
| 6:169628289 | H>Y | A:783 | (40.98, 26.70, 14.94) | |
| 6:169628286 | N>D | A:784 | (36.58, 25.94, 16.74) | |
| 6:169628280 | A>S | A:786 | (35.93, 23.64, 21.73) | |
| 6:169628272 | I>M | A:788 | (32.94, 27.31, 22.83) | |
| 6:169628259 | N>D | A:793 | (23.00, 29.47, 18.38) | |
| 6:169628255 | G>A | A:794 | (25.04, 26.75, 16.56) | |
| 6:169628247 | D>N | A:797 | (31.97, 31.64, 20.49) | |
| 6:169628235 | V>M | A:801 | (30.04, 39.29, 16.42) | |
| 6:169628228 | I>T | A:803 | (29.41, 35.15, 22.16) | |
| 6:169626387 | F>Y | A:809 | (28.24, 43.45, 18.37) | |
| 6:169626363 | Y>C | A:817 | (31.82, 35.09, 27.78) | |
| 6:169626361 | V>I | A:818 | (26.71, 37.56, 30.53) | |
| 6:169626351 | T>I | A:821 | (20.71, 44.39, 27.01) | |
| 6:169626345 | rs376275090 | Q>R | A:823 | (25.82, 46.98, 28.96) |
| 6:169626336 | rs578215810 | T>M | A:826 | (27.56, 50.89, 39.07) |
| 6:169626324 | G>D | A:830 | (34.06, 47.48, 32.43) | |
| 6:169626325 | rs145039765 | G>S | A:830 | (34.06, 47.48, 32.43) |
| 6:169626309 | C>Y | A:835 | (30.27, 40.07, 35.17) | |
| 6:169626297 | P>L | A:839 | (29.68, 44.93, 42.06) | |
| 6:169625471 | D>N | A:848 | (38.87, 35.27, 43.06) | |
| 6:169625468 | V>M | A:849 | (42.92, 34.49, 45.28) | |
| 6:169625447 | D>Y | A:856 | (40.71, 40.26, 45.57) | |
| 6:169625435 | N>D | A:860 | (36.87, 41.08, 54.20) | |
| 6:169625422 | I>T | A:864 | (31.25, 36.10, 62.74) | |
| 6:169625411 | G>S | A:868 | (30.74, 32.09, 53.48) | |
| 6:169625402 | N>H | A:871 | (30.02, 40.10, 57.76) | |
| 6:169625399 | N>H | A:872 | (29.39, 42.92, 53.58) | |
| 6:169625368 | A>V | A:882 | (24.82, 29.03, 53.28) | |
| 6:169625369 | A>T | A:882 | (24.82, 29.03, 53.28) | |
| 6:169625361 | Q>H | A:884 | (21.84, 33.44, 52.22) | |
| 6:169625347 | R>K | A:889 | (13.40, 38.84, 47.11) | |
| 6:169625333 | rs149756243 | D>N | A:894 | (14.55, 32.13, 55.90) |
| 6:169625330 | rs577405635 | A>T | A:895 | (17.38, 32.11, 59.68) |
| 6:169625306 | D>N | A:903 | (1.71, 35.31, 56.39) | |
| 6:169625300 | rs184952882 | V>I | A:905 | (1.49, 33.42, 60.56) |
| 6:169625297 | P>A | A:906 | (4.41, 33.10, 62.91) | |
| 6:169625291 | D>N | A:908 | (6.10, 29.05, 65.25) | |
| 6:169625275 | rs568444513 | R>Q | A:913 | (8.03, 27.55, 56.66) |
| 6:169625261 | P>S | A:918 | (-3.20, 34.64, 56.27) | |
| 6:169625244 | rs188300247 | L>F | A:923 | (-10.41, 22.36, 54.44) |
| 6:169625245 | L>S | A:923 | (-10.41, 22.36, 54.44) | |
| 6:169623561 | rs566007634 COSM3860499 |
R>Q | A:928 | (1.06, 20.85, 54.06) |
| 6:169623562 | rs182173220 | R>W | A:928 | (1.06, 20.85, 54.06) |
| 6:169623556 | D>N | A:930 | (-4.84, 23.43, 51.58) | |
| 6:169623552 | rs114156352 | I>N | A:931 | (-1.83, 27.15, 49.23) |
| 6:169623531 | rs570626256 | N>S | A:938 | (5.52, 27.67, 45.28) |
| 6:169623520 | P>S | A:942 | (6.86, 18.15, 43.16) | |
| 6:169623513 | rs146079026 | I>T | A:944 | (8.32, 13.49, 45.28) |
| 6:169623511 | D>N | A:945 | (10.39, 15.03, 42.15) | |
| 6:169623505 | V>M | A:947 | (16.43, 17.84, 46.03) | |
| 6:169623411 | N>S | A:978 | (38.76, 17.72, 30.79) | |
| 6:169623403 | I>V | A:981 | (28.89, 17.55, 31.38) | |
| 6:169623400 | COSM264024 | R>G | A:982 | (28.04, 12.03, 30.47) |
| 6:169623390 | G>D | A:985 | (24.55, 17.23, 35.69) | |
| 6:169623387 | K>R | A:986 | (22.54, 14.23, 37.13) | |
| 6:169623372 | T>R | A:991 | (39.85, 13.07, 30.94) | |
| 6:169623373 | T>P | A:991 | (39.85, 13.07, 30.94) | |
| 6:169623355 | G>S | A:997 | (40.79, 20.10, 41.38) | |
| 6:169623349 | A>T | A:999 | (34.16, 21.00, 40.32) | |
| 6:169622555 | rs138262723 | E>K | A:1004 | (24.61, 27.67, 48.35) |
| 6:169622548 | G>V | A:1006 | (23.59, 23.12, 54.76) | |
| 6:169622519 | V>I | A:1016 | (38.50, 4.58, 37.65) | |
| 6:169622508 | rs143050504 | D>E | A:1019 | (44.72, 0.71, 33.58) |
| 6:169622507 | rs144671564 | R>W | A:1020 | (45.84, 4.90, 31.89) |
| 6:169622491 | rs138932100 | A>V | A:1025 | (39.47, 11.08, 43.83) |
| 6:169622489 | G>S | A:1026 | (36.37, 12.92, 44.78) | |
| 6:169622483 | V>I | A:1028 | (34.06, 18.93, 47.80) | |
| 6:169622477 | G>S | A:1030 | (31.63, 23.16, 52.21) | |
| 6:169622464 | S>N | A:1034 | (40.39, 27.81, 47.93) | |
| 6:169622458 | COSM265364 | R>H | A:1036 | (36.84, 28.58, 54.34) |
| 6:169622428 | T>M | A:1046 | (50.71, 4.46, 49.19) | |
| 6:169622398 | R>Q | A:1056 | (59.43, 15.61, 52.96) | |
| 6:169622399 | rs141219768 | R>W | A:1056 | (59.43, 15.61, 52.96) |
| 6:169622381 | G>S | A:1062 | (42.18, 5.76, 51.18) | |
| 6:169622378 | V>M | A:1063 | (38.69, 7.09, 52.27) | |
| 6:169622362 | V>A | A:1068 | (40.85, 23.02, 53.92) | |
| 6:169622350 | T>K | A:1072 | (48.60, 30.10, 51.91) | |
| 6:169622344 | COSM360274 | T>M | A:1074 | (46.00, 28.54, 46.02) |
| 6:169622339 | E>K | A:1076 | (53.95, 25.10, 47.04) | |
| 6:169622323 | rs575823532 | A>V | A:1081 | (48.52, 19.17, 52.26) |
| 6:169622299 | rs139254686 | P>L | A:1089 | (50.34, 22.90, 60.14) |
| 6:169622296 | G>E | A:1090 | (47.87, 25.97, 58.00) | |
| 6:169621618 | COSM1076104 | R>Q | A:1093 | (41.95, 19.68, 60.66) |
| 6:169621604 | rs368075705 COSM1076103 |
D>N | A:1098 | (40.56, 3.48, 56.02) |
| 6:169621591 | I>T | A:1102 | (41.04, -0.07, 51.44) | |
| 6:169621592 | I>V | A:1102 | (41.04, -0.07, 51.44) | |
| 6:169621582 | K>R | A:1105 | (39.25, -2.07, 43.03) | |
| 6:169621573 | rs139601458 | T>M | A:1108 | (35.45, -0.70, 40.48) |
| 6:169621541 | K>E | A:1119 | (22.60, 23.32, 62.80) | |
| 6:169621537 | T>I | A:1120 | (25.78, 19.49, 65.01) | |
| 6:169621531 | Y>C | A:1122 | (26.77, 13.81, 61.71) | |
| 6:169620431 | rs148801026 | V>F | A:1125 | (31.67, 9.12, 54.93) |
| 6:169620425 | rs545179688 | V>L | A:1127 | (32.06, 4.00, 50.65) |
| 6:169620421 | rs375397482 | H>L | A:1128 | (28.43, 1.28, 49.65) |
| 6:169620422 | rs144366283 | H>N | A:1128 | (28.43, 1.28, 49.65) |
| 6:169620407 | rs112533700 | V>F | A:1133 | (29.64, -1.17, 53.55) |
| 6:169620395 | S>T | A:1137 | (33.46, 7.49, 59.32) | |
| 6:169620389 | P>T | A:1139 | (30.20, 9.29, 63.77) | |
| 6:169620382 | Y>C | A:1141 | (30.40, 15.41, 65.57) | |
| 6:169620368 | rs371131576 | A>T | A:1146 | (28.22, 25.98, 58.37) |
| 6:169620358 | R>P | A:1149 | (29.84, 25.91, 46.54) | |
| 6:169620295 | R>K | A:1170 | (17.57, 15.36, 54.18) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 6:169632779 | COSM368209 | A>S | A:638 | (-18.04, 8.73, 79.30) |
| 6:169632238 | COSM4445045 | A>V | A:663 | (14.20, -1.12, 49.55) |
| 6:169632173 | COSM2855181 | A>T | A:685 | (17.41, -0.53, 40.44) |
| 6:169629774 | COSM131372 | D>N | A:718 | (22.25, -0.32, 31.59) |
| 6:169629759 | COSM368208 | L>V | A:723 | (30.51, 2.09, 31.94) |
| 6:169626325 | COSM3697675 | G>S | A:830 | (34.06, 47.48, 32.43) |
| 6:169623541 | COSM3777316 | D>N | A:935 | (5.11, 22.83, 46.10) |
| 6:169623438 | COSM1672978 | P>R | A:969 | (48.09, 27.86, 40.09) |
| 6:169623439 | COSM741108 | P>S | A:969 | (48.09, 27.86, 40.09) |
| 6:169623400 | COSM264024 | R>C | A:982 | (28.04, 12.03, 30.47) |
| 6:169623354 | COSM4769979 | G>V | A:997 | (40.79, 20.10, 41.38) |
| 6:169623349 | COSM5009073 | A>T | A:999 | (34.16, 21.00, 40.32) |
| 6:169622506 | COSM3662292 | R>Q | A:1020 | (45.84, 4.90, 31.89) |
| 6:169622458 | COSM265364 | R>H | A:1036 | (36.84, 28.58, 54.34) |
| 6:169621604 | COSM1076103 | D>N | A:1098 | (40.56, 3.48, 56.02) |
| 6:169620302 | COSM230107 | E>K | A:1168 | (18.56, 15.23, 49.04) |