General Structure Information
| PDB ID | 3top |
| HGNC Gene Label(s) | MGAM |
| Structure Name | crystral structure of the c-terminal subunit of human maltase- glucoamylase in complex with acarbose |
| Resolution | 2.88Å |
| Reference | AUTH L.M.REN,X.H.QIN,X.F.CAO,L.L.WANG,F.BAI,G.BAI,Y.SHENTITL STRUCTURAL INSIGHT INTO SUBSTRATE SPECIFICITY OF HUMANTITL 2 INTESTINAL MALTASE-GLUCOAMYLASEREF PROTEIN CELL V. 2 827 2011REFN ISSN 1674-800XPMID 22058037DOI 10.1007/S13238-011-1105-3 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 890 |
| Number Of SNVs | 257 |
| Number Of Permutations | 84816 |
| Optimal Distance Threshold | 29.0 |
| K Statistic | 0.315 |
| p-value | 0.41 |
COSMIC
| Number Of Residues | 890 |
| Number Of SNVs | 23 |
| Number Of Permutations | 29132 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.024 |
| p-value | 0.704 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 257 |
| Number Of COSMIC SNVs | 22 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | -0.034 |
| p-value | 0.955 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:141752196 | rs377088094 | E>K | B:970 | (-67.55, 19.08, -45.57) |
| 7:141752199 | rs199621773 | N>D | B:971 | (-70.50, 21.26, -44.09) |
| 7:141752202 | G>R | B:972 | (-71.27, 23.72, -40.01) | |
| 7:141752211 | rs370898028 | A>S | B:975 | (-71.10, 29.89, -33.72) |
| 7:141752214 | COSM3634597 COSM3634596 COSM3634595 |
E>K | B:976 | (-75.54, 28.30, -33.67) |
| 7:141752215 | rs116536012 | E>A | B:976 | (-75.54, 28.30, -33.67) |
| 7:141752226 | A>T | B:980 | (-73.54, 22.64, -29.41) | |
| 7:141752229 | rs146202976 | R>C | B:981 | (-68.86, 19.50, -29.29) |
| 7:141752230 | rs199504784 | R>H | B:981 | (-68.86, 19.50, -29.29) |
| 7:141752239 | COSM162468 | I>N | B:984 | (-65.50, 28.47, -27.56) |
| 7:141752243 | W>C | B:985 | (-66.95, 30.79, -33.62) | |
| 7:141752620 | COSM1086470 COSM1086469 COSM1086467 |
V>I | B:999 | (-62.85, 24.74, -23.49) |
| 7:141752626 | COSM3634612 COSM3634611 COSM3634610 |
D>N | B:1001 | (-62.86, 17.06, -21.12) |
| 7:141752627 | D>G | B:1001 | (-62.86, 17.06, -21.12) | |
| 7:141752629 | L>V | B:1002 | (-65.81, 14.57, -23.78) | |
| 7:141752660 | rs141712469 | S>C | B:1012 | (-44.08, -5.46, -14.67) |
| 7:141752662 | H>Y | B:1013 | (-44.82, -6.96, -17.89) | |
| 7:141752669 | A>V | B:1015 | (-51.02, -0.53, -18.32) | |
| 7:141752690 | COSM3634621 COSM3634620 COSM3634619 |
K>T | B:1022 | (-67.33, 14.32, -18.59) |
| 7:141752691 | K>N | B:1022 | (-67.33, 14.32, -18.59) | |
| 7:141752696 | S>F | B:1024 | (-73.86, 12.73, -23.30) | |
| 7:141752698 | rs369372605 | V>I | B:1025 | (-74.63, 16.81, -23.32) |
| 7:141752704 | A>T | B:1027 | (-70.77, 13.57, -27.34) | |
| 7:141752720 | S>C | B:1032 | (-70.88, 9.15, -34.39) | |
| 7:141752722 | rs187645172 | T>A | B:1033 | (-72.79, 7.09, -31.93) |
| 7:141752723 | T>I | B:1033 | (-72.79, 7.09, -31.93) | |
| 7:141752728 | rs369972042 | V>M | B:1035 | (-68.03, 4.62, -27.75) |
| 7:141752738 | L>H | B:1038 | (-63.70, 3.51, -24.02) | |
| 7:141752740 | COSM3634630 COSM3634629 COSM3634628 |
R>C | B:1039 | (-59.65, -1.40, -21.32) |
| 7:141752741 | rs139662456 | R>H | B:1039 | (-59.65, -1.40, -21.32) |
| 7:141752752 | COSM599579 COSM599578 COSM599577 |
T>S | B:1043 | (-47.97, -3.38, -23.82) |
| 7:141752770 | M>L | B:1049 | (-41.83, -1.92, -28.71) | |
| 7:141752777 | Q>R | B:1051 | (-49.14, -1.94, -27.87) | |
| 7:141752783 | K>R | B:1053 | (-55.33, -0.99, -28.14) | |
| 7:141754562 | D>E | B:1056 | (-65.41, -1.32, -27.22) | |
| 7:141754563 | COSM3634639 COSM3634638 COSM3634637 |
P>S | B:1057 | (-64.69, -3.40, -24.15) |
| 7:141754573 | rs544377960 | N>S | B:1060 | (-65.24, -6.68, -31.56) |
| 7:141754575 | R>W | B:1061 | (-64.67, -0.99, -32.97) | |
| 7:141754578 | rs187047261 | Y>H | B:1062 | (-61.50, -2.92, -38.59) |
| 7:141754583 | E>D | B:1063 | (-58.87, -4.54, -34.75) | |
| 7:141754584 | V>I | B:1064 | (-55.87, -3.90, -38.91) | |
| 7:141754594 | P>L | B:1067 | (-49.73, -9.61, -39.98) | |
| 7:141754615 | P>Q | B:1074 | (-44.31, -9.34, -22.30) | |
| 7:141754617 | COSM3703160 COSM3703159 COSM3703158 |
S>P | B:1075 | (-39.54, -8.86, -23.01) |
| 7:141754626 | COSM3634645 COSM3634644 COSM3634643 |
P>S | B:1078 | (-36.69, -3.10, -15.23) |
| 7:141754635 | rs201314573 COSM1548457 COSM1548456 COSM1548455 |
Q>E | B:1081 | (-38.03, -0.24, -19.88) |
| 7:141754641 | Y>H | B:1083 | (-40.29, 2.37, -22.38) | |
| 7:141754642 | Y>C | B:1083 | (-40.29, 2.37, -22.38) | |
| 7:141754659 | rs369315124 | K>E | B:1089 | (-57.12, 11.29, -13.77) |
| 7:141754668 | F>L | B:1092 | (-57.20, 10.80, -21.30) | |
| 7:141754669 | F>S | B:1092 | (-57.20, 10.80, -21.30) | |
| 7:141754672 | G>E | B:1093 | (-53.70, 11.10, -20.70) | |
| 7:141754683 | COSM262004 COSM1488300 COSM262005 |
R>C | B:1097 | (-40.37, 9.87, -19.29) |
| 7:141754684 | R>H | B:1097 | (-40.37, 9.87, -19.29) | |
| 7:141754687 | COSM205350 TMP_ESP_7_141754687_141754687 |
R>Q | B:1098 | (-35.98, 8.72, -24.45) |
| 7:141754695 | rs201221721 | T>A | B:1101 | (-33.16, 11.97, -21.38) |
| 7:141754699 | G>D | B:1102 | (-36.97, 13.21, -20.19) | |
| 7:141754702 | T>I | B:1103 | (-37.41, 13.73, -23.56) | |
| 7:141754704 | I>V | B:1104 | (-42.07, 14.26, -23.60) | |
| 7:141755364 | D>E | B:1107 | (-48.44, 14.55, -24.22) | |
| 7:141755366 | S>C | B:1108 | (-52.52, 12.75, -24.90) | |
| 7:141755381 | F>S | B:1113 | (-60.43, 11.38, -26.79) | |
| 7:141755384 | T>I | B:1114 | (-63.37, 11.97, -29.80) | |
| 7:141755389 | S>G | B:1116 | (-67.29, 7.83, -32.20) | |
| 7:141755395 | M>V | B:1118 | (-68.24, 6.48, -38.12) | |
| 7:141755404 | R>C | B:1121 | (-60.48, 14.21, -32.24) | |
| 7:141755405 | rs370241545 | R>H | B:1121 | (-60.48, 14.21, -32.24) |
| 7:141755413 | T>A | B:1124 | (-49.57, 14.63, -29.61) | |
| 7:141755417 | R>H | B:1125 | (-47.88, 18.72, -26.30) | |
| 7:141755440 | G>S | B:1133 | (-43.64, 11.26, -42.48) | |
| 7:141755457 | E>D | B:1138 | (-46.32, 16.00, -53.55) | |
| 7:141755477 | D>G | B:1145 | (-44.79, 23.09, -41.56) | |
| 7:141755498 | G>A | B:1152 | (-54.86, 13.00, -46.36) | |
| 7:141755502 | rs575188237 | M>I | B:1153 | (-54.34, 9.46, -44.83) |
| 7:141755510 | rs190285241 | R>Q | B:1156 | (-57.64, 9.36, -54.83) |
| 7:141755512 | COSM1730081 COSM1730080 COSM1730079 |
D>H | B:1157 | (-55.93, 7.35, -59.06) |
| 7:141755521 | COSM599570 COSM599569 COSM599568 |
P>S | B:1160 | (-48.52, 13.18, -57.25) |
| 7:141755803 | rs558774330 | K>E | B:1163 | (-52.57, 19.49, -48.48) |
| 7:141755804 | rs200851430 | K>R | B:1163 | (-52.57, 19.49, -48.48) |
| 7:141755809 | N>Y | B:1165 | (-55.47, 11.64, -51.20) | |
| 7:141755816 | Y>C | B:1167 | (-51.09, 6.51, -55.83) | |
| 7:141755824 | H>Y | B:1170 | (-47.70, 4.43, -45.02) | |
| 7:141755825 | H>P | B:1170 | (-47.70, 4.43, -45.02) | |
| 7:141755842 | L>M | B:1176 | (-35.70, 14.28, -34.35) | |
| 7:141756636 | T>M | B:1196 | (-53.63, 18.13, -38.01) | |
| 7:141756650 | P>S | B:1201 | (-45.09, 21.47, -30.85) | |
| 7:141756662 | Y>N | B:1205 | (-53.46, 10.88, -35.21) | |
| 7:141756665 | rs115080419 | R>C | B:1206 | (-59.05, 14.53, -37.77) |
| 7:141756666 | R>H | B:1206 | (-59.05, 14.53, -37.77) | |
| 7:141756669 | T>N | B:1207 | (-60.08, 7.93, -37.76) | |
| 7:141756680 | V>L | B:1211 | (-59.09, 0.81, -32.87) | |
| 7:141756695 | V>M | B:1216 | (-43.77, 3.46, -29.72) | |
| 7:141756703 | L>F | B:1218 | (-37.62, 4.31, -27.97) | |
| 7:141756705 | rs202179894 | G>E | B:1219 | (-34.58, 4.07, -30.50) |
| 7:141756713 | COSM3634695 COSM3634694 COSM3634693 |
P>T | B:1222 | (-32.50, 7.24, -36.90) |
| 7:141756716 | E>K | B:1223 | (-31.03, 3.53, -39.28) | |
| 7:141756722 | V>L | B:1225 | (-36.29, 3.65, -35.30) | |
| 7:141756726 | T>I | B:1226 | (-36.24, 1.84, -39.07) | |
| 7:141756732 | rs374194991 | Q>R | B:1228 | (-37.01, -0.74, -33.69) |
| 7:141758013 | R>Q | B:1235 | (-37.04, -6.55, -41.48) | |
| 7:141758018 | V>M | B:1237 | (-38.40, -7.62, -50.36) | |
| 7:141758022 | M>T | B:1238 | (-33.89, -9.54, -51.42) | |
| 7:141758027 | COSM3634698 COSM3634697 COSM3634696 |
P>S | B:1240 | (-33.83, -9.33, -58.02) |
| 7:141758028 | COSM3634701 COSM3634700 COSM3634699 |
P>L | B:1240 | (-33.83, -9.33, -58.02) |
| 7:141758042 | G>R | B:1245 | (-31.13, -2.01, -62.95) | |
| 7:141758054 | C>G | B:1249 | (-41.59, 1.78, -70.01) | |
| 7:141758057 | COSM205351 | R>C | B:1250 | (-44.38, 4.88, -73.75) |
| 7:141758058 | COSM3634707 COSM3634706 COSM3634705 |
R>H | B:1250 | (-44.38, 4.88, -73.75) |
| 7:141758061 | Y>C | B:1251 | (-50.02, 4.33, -71.80) | |
| 7:141758069 | Q>E | B:1254 | (-48.60, 1.47, -81.10) | |
| 7:141758070 | Q>R | B:1254 | (-48.60, 1.47, -81.10) | |
| 7:141758071 | COSM1086506 COSM1086505 COSM1086503 |
Q>H | B:1254 | (-48.60, 1.47, -81.10) |
| 7:141758072 | N>D | B:1255 | (-46.22, -1.75, -82.89) | |
| 7:141758082 | E>V | B:1258 | (-42.38, 0.66, -81.02) | |
| 7:141758097 | Y>F | B:1263 | (-32.87, -4.78, -76.74) | |
| 7:141758100 | D>G | B:1264 | (-32.18, -3.43, -81.06) | |
| 7:141758105 | rs559779417 | M>V | B:1266 | (-30.53, 0.96, -75.80) |
| 7:141758112 | A>D | B:1268 | (-26.32, 0.30, -80.25) | |
| 7:141758115 | A>G | B:1269 | (-25.65, 2.76, -77.64) | |
| 7:141758119 | Q>H | B:1270 | (-22.81, 0.59, -76.17) | |
| 7:141759282 | rs191199615 | Y>C | B:1277 | (-41.22, -2.83, -67.85) |
| 7:141759285 | rs146623163 | S>L | B:1278 | (-45.27, -3.69, -71.70) |
| 7:141759293 | COSM1086510 COSM1086509 COSM1086507 |
D>N | B:1281 | (-50.30, -1.39, -74.89) |
| 7:141759302 | E>Q | B:1284 | (-57.45, -8.12, -76.82) | |
| 7:141759306 | R>Q | B:1285 | (-60.32, -5.28, -75.91) | |
| 7:141759308 | COSM352213 COSM352212 COSM352211 |
Q>K | B:1286 | (-56.97, -2.74, -72.42) |
| 7:141759315 | D>G | B:1288 | (-56.04, -8.89, -67.36) | |
| 7:141759323 | L>I | B:1291 | (-51.59, -11.15, -76.76) | |
| 7:141759341 | G>R | B:1297 | (-44.34, -12.04, -81.13) | |
| 7:141759348 | P>L | B:1299 | (-43.97, -13.82, -77.33) | |
| 7:141759360 | rs199746207 | N>S | B:1303 | (-38.00, -15.73, -75.34) |
| 7:141759362 | R>C | B:1304 | (-34.52, -11.16, -79.17) | |
| 7:141759383 | R>W | B:1311 | (-34.57, -10.97, -66.61) | |
| 7:141759668 | S>P | B:1321 | (-64.06, -7.76, -68.13) | |
| 7:141759684 | rs374679841 | Q>R | B:1326 | (-65.18, -14.37, -77.76) |
| 7:141759695 | A>T | B:1330 | (-60.39, -14.89, -66.17) | |
| 7:141759704 | R>W | B:1333 | (-60.95, -19.81, -64.61) | |
| 7:141759705 | rs372720908 | R>Q | B:1333 | (-60.95, -19.81, -64.61) |
| 7:141759710 | rs556773642 | V>M | B:1335 | (-67.76, -16.28, -61.54) |
| 7:141759722 | V>I | B:1339 | (-63.12, -14.18, -56.86) | |
| 7:141759737 | P>T | B:1344 | (-74.14, -6.92, -48.88) | |
| 7:141759738 | P>L | B:1344 | (-74.14, -6.92, -48.88) | |
| 7:141759745 | D>E | B:1346 | (-76.52, -12.10, -51.75) | |
| 7:141759766 | rs368053105 | K>N | B:1353 | (-66.30, 1.56, -66.01) |
| 7:141760114 | W>R | B:1355 | (-57.26, 1.72, -68.21) | |
| 7:141760117 | P>T | B:1356 | (-61.09, -2.55, -69.85) | |
| 7:141760132 | V>I | B:1361 | (-66.57, -0.47, -79.34) | |
| 7:141760150 | L>V | B:1367 | (-63.86, 11.20, -77.34) | |
| 7:141760166 | rs202114402 | Q>L | B:1372 | (-63.24, 7.44, -73.81) |
| 7:141760171 | E>Q | B:1374 | (-71.01, 5.93, -71.11) | |
| 7:141762476 | S>G | B:1411 | (-45.96, -17.95, -73.90) | |
| 7:141762487 | rs372526101 | F>L | B:1414 | (-43.57, -13.41, -66.28) |
| 7:141762489 | rs375424596 | D>G | B:1415 | (-38.72, -12.23, -65.00) |
| 7:141762496 | M>I | B:1417 | (-45.79, -8.81, -62.20) | |
| 7:141762499 | rs368030090 COSM3722522 COSM3722521 COSM3722520 |
W>C | B:1418 | (-46.36, -2.15, -63.43) |
| 7:141763299 | rs201271635 | D>N | B:1420 | (-51.47, -0.65, -61.44) |
| 7:141763311 | rs185053832 | P>T | B:1424 | (-59.36, 0.20, -55.47) |
| 7:141763314 | S>P | B:1425 | (-58.88, 2.48, -59.47) | |
| 7:141763318 | S>N | B:1426 | (-62.61, 3.51, -60.58) | |
| 7:141763323 | V>M | B:1428 | (-67.02, 5.14, -61.83) | |
| 7:141763327 | N>S | B:1429 | (-67.61, 8.03, -58.46) | |
| 7:141763332 | A>T | B:1431 | (-70.68, 2.06, -58.99) | |
| 7:141763345 | G>D | B:1435 | (-74.92, 3.18, -57.77) | |
| 7:141763348 | C>Y | B:1436 | (-74.30, 3.06, -54.18) | |
| 7:141763350 | R>G | B:1437 | (-77.36, 0.95, -52.59) | |
| 7:141763354 | D>G | B:1438 | (-75.07, 3.88, -47.91) | |
| 7:141763368 | H>Y | B:1443 | (-71.90, 13.39, -45.88) | |
| 7:141763371 | P>A | B:1444 | (-68.92, 9.61, -43.73) | |
| 7:141763377 | Y>N | B:1446 | (-64.52, 13.81, -40.47) | |
| 7:141763378 | Y>C | B:1446 | (-64.52, 13.81, -40.47) | |
| 7:141764201 | R>W | B:1455 | (-67.91, 13.35, -55.46) | |
| 7:141764211 | S>N | B:1458 | (-66.68, 6.87, -53.53) | |
| 7:141764246 | L>I | B:1470 | (-61.17, -11.41, -43.92) | |
| 7:141764258 | S>P | B:1474 | (-64.85, -12.68, -41.54) | |
| 7:141764262 | rs3087318 | L>P | B:1475 | (-68.13, -10.71, -43.24) |
| 7:141764279 | V>M | B:1481 | (-60.51, -2.91, -46.04) | |
| 7:141764282 | H>Y | B:1482 | (-59.85, 1.44, -49.83) | |
| 7:141764321 | rs374771873 | E>K | B:1495 | (-46.81, -16.18, -53.36) |
| 7:141765139 | rs201533344 COSM1622464 COSM1622463 COSM1622462 |
V>M | B:1497 | (-43.81, -14.57, -59.74) |
| 7:141765144 | Q>H | B:1498 | (-41.65, -16.96, -56.18) | |
| 7:141765152 | T>M | B:1501 | (-40.42, -18.18, -62.21) | |
| 7:141765161 | rs374506553 | R>Q | B:1504 | (-35.19, -13.68, -55.77) |
| 7:141765163 | COSM1448742 COSM1448741 COSM1448740 |
G>R | B:1505 | (-38.26, -11.92, -58.20) |
| 7:141765169 | rs527929510 COSM1448745 COSM1448744 COSM1448743 |
V>I | B:1507 | (-43.52, -6.97, -57.02) |
| 7:141765172 | I>F | B:1508 | (-43.57, -3.08, -58.72) | |
| 7:141765176 | T>N | B:1509 | (-47.15, -1.95, -55.80) | |
| 7:141765178 | R>C | B:1510 | (-50.50, 2.74, -57.89) | |
| 7:141765179 | COSM3411685 COSM3411684 COSM3411683 |
R>H | B:1510 | (-50.50, 2.74, -57.89) |
| 7:141765184 | T>P | B:1512 | (-48.79, 0.95, -50.10) | |
| 7:141765191 | P>L | B:1514 | (-48.14, -0.58, -43.28) | |
| 7:141765202 | R>C | B:1518 | (-43.28, -8.88, -45.60) | |
| 7:141765203 | R>H | B:1518 | (-43.28, -8.88, -45.60) | |
| 7:141765208 | rs200663999 | A>P | B:1520 | (-42.80, -5.14, -52.56) |
| 7:141765217 | W>G | B:1523 | (-44.94, 3.23, -59.26) | |
| 7:141765266 | I>T | B:1539 | (-38.80, 13.48, -50.41) | |
| 7:141794548 | T>M | B:1552 | (-38.15, 2.98, -54.29) | |
| 7:141794551 | rs375492601 | G>V | B:1553 | (-39.04, 5.36, -57.39) |
| 7:141794557 | D>G | B:1555 | (-41.54, 7.58, -63.51) | |
| 7:141794594 | M>I | B:1567 | (-35.79, 17.88, -67.07) | |
| 7:141794598 | V>I | B:1569 | (-29.75, 15.08, -68.68) | |
| 7:141794601 | COSM3634779 COSM3634778 COSM3634777 |
R>C | B:1570 | (-29.06, 17.49, -64.73) |
| 7:141794617 | G>E | B:1575 | (-32.09, 7.97, -61.30) | |
| 7:141794624 | F>L | B:1577 | (-27.61, 6.88, -58.56) | |
| 7:141794625 | Y>H | B:1578 | (-34.21, 6.94, -58.59) | |
| 7:141794645 | H>Q | B:1584 | (-43.13, 5.12, -67.44) | |
| 7:141794649 | T>A | B:1586 | (-47.80, 8.98, -70.71) | |
| 7:141794653 | I>T | B:1587 | (-50.04, 7.56, -74.13) | |
| 7:141795368 | Q>K | B:1592 | (-39.08, 10.23, -72.08) | |
| 7:141795375 | COSM1086540 COSM1086541 COSM1086539 |
P>R | B:1594 | (-32.17, 7.28, -73.70) |
| 7:141795393 | A>V | B:1600 | (-25.14, 13.94, -76.40) | |
| 7:141795404 | rs112671793 | I>V | B:1604 | (-24.56, 11.70, -70.69) |
| 7:141795416 | V>I | B:1608 | (-24.56, 7.66, -65.40) | |
| 7:141795425 | T>A | B:1611 | (-21.43, 4.67, -62.41) | |
| 7:141795426 | T>I | B:1611 | (-21.43, 4.67, -62.41) | |
| 7:141795477 | rs138571855 | T>M | B:1628 | (-31.04, -8.93, -42.92) |
| 7:141795485 | rs374392165 | V>I | B:1631 | (-31.11, -0.97, -42.53) |
| 7:141795498 | R>Q | B:1635 | (-29.08, 5.70, -45.16) | |
| 7:141795506 | rs9655651 | L>I | B:1638 | (-30.69, 12.82, -40.52) |
| 7:141795511 | H>Q | B:1639 | (-30.95, 8.50, -40.74) | |
| 7:141796193 | L>P | B:1661 | (-23.03, 11.79, -50.82) | |
| 7:141796214 | rs369519766 | R>H | B:1668 | (-34.07, 25.24, -66.01) |
| 7:141797403 | N>T | B:1672 | (-23.39, 25.28, -59.95) | |
| 7:141797429 | R>C | B:1681 | (-11.30, 12.02, -45.49) | |
| 7:141797430 | rs528091576 COSM3942085 COSM3942084 COSM3942083 |
R>H | B:1681 | (-11.30, 12.02, -45.49) |
| 7:141797434 | W>C | B:1682 | (-17.79, 13.07, -47.74) | |
| 7:141797436 | Y>C | B:1683 | (-12.31, 10.27, -50.45) | |
| 7:141797442 | Y>C | B:1685 | (-17.13, 6.63, -57.50) | |
| 7:141797448 | COSM3670374 COSM3670373 COSM3670372 |
T>M | B:1687 | (-11.03, 11.55, -58.97) |
| 7:141799414 | G>V | B:1688 | (-10.23, 10.13, -55.30) | |
| 7:141799416 | V>L | B:1689 | (-9.99, 13.69, -54.56) | |
| 7:141799426 | rs369802718 | N>S | B:1692 | (-11.18, 19.20, -47.47) |
| 7:141799433 | R>S | B:1694 | (-14.38, 17.70, -42.07) | |
| 7:141799440 | W>R | B:1697 | (-23.72, 23.95, -47.32) | |
| 7:141799447 | T>S | B:1699 | (-19.91, 25.41, -54.81) | |
| 7:141799452 | COSM3634824 COSM3634823 COSM3634822 |
P>T | B:1701 | (-18.16, 21.81, -60.12) |
| 7:141799468 | H>R | B:1706 | (-20.40, 15.54, -63.35) | |
| 7:141799480 | H>P | B:1710 | (-18.62, 12.70, -53.21) | |
| 7:141799485 | COSM3928867 COSM3928866 COSM3928865 |
R>C | B:1712 | (-18.92, 7.99, -44.60) |
| 7:141799504 | P>L | B:1718 | (-17.96, -3.36, -53.17) | |
| 7:141799512 | COSM3634830 COSM3634829 COSM3634828 |
E>Q | B:1721 | (-15.86, -4.38, -64.86) |
| 7:141799515 | P>T | B:1722 | (-19.27, -1.74, -66.53) | |
| 7:141799537 | S>N | B:1729 | (-21.64, -7.67, -65.05) | |
| 7:141800603 | R>C | B:1730 | (-23.40, -11.56, -61.79) | |
| 7:141800604 | rs200582702 | R>H | B:1730 | (-23.40, -11.56, -61.79) |
| 7:141800614 | rs576684251 | F>L | B:1733 | (-12.31, -8.68, -63.52) |
| 7:141800634 | L>S | B:1740 | (-8.63, 5.34, -46.22) | |
| 7:141800646 | G>V | B:1744 | (-11.21, 6.65, -40.73) | |
| 7:141800652 | A>V | B:1746 | (-11.84, 1.03, -43.04) | |
| 7:141800654 | G>R | B:1747 | (-15.17, -0.43, -43.68) | |
| 7:141800675 | D>N | B:1754 | (-27.87, -16.97, -57.44) | |
| 7:141800688 | I>T | B:1758 | (-36.08, -18.49, -53.50) | |
| 7:141802436 | Y>C | B:1761 | (-29.12, -15.17, -45.21) | |
| 7:141802444 | G>R | B:1764 | (-27.31, -21.62, -48.12) | |
| 7:141802460 | A>V | B:1769 | (-17.73, -10.39, -46.50) | |
| 7:141802463 | S>N | B:1770 | (-16.00, -8.46, -43.59) | |
| 7:141802479 | Q>H | B:1775 | (-2.10, -0.97, -39.83) | |
| 7:141803073 | COSM1086548 COSM1086547 COSM1086545 |
T>M | B:1777 | (-3.31, -2.97, -44.30) |
| 7:141803075 | M>L | B:1778 | (-7.68, -4.86, -46.91) | |
| 7:141803076 | rs116770864 | M>T | B:1778 | (-7.68, -4.86, -46.91) |
| 7:141803085 | H>R | B:1781 | (-13.52, -12.54, -41.77) | |
| 7:141803090 | rs140217455 | I>V | B:1783 | (-18.68, -14.29, -42.30) |
| 7:141803114 | T>A | B:1791 | (-15.32, -24.49, -59.39) | |
| 7:141803124 | L>S | B:1794 | (-15.69, -13.63, -57.85) | |
| 7:141803139 | I>T | B:1799 | (-7.33, -3.12, -55.21) | |
| 7:141803144 | rs534879249 | I>V | B:1801 | (-6.43, 2.62, -51.73) |
| 7:141803153 | V>L | B:1804 | (-2.71, 6.60, -48.47) | |
| 7:141803159 | rs368559734 | S>G | B:1806 | (1.84, 12.36, -48.78) |
| 7:141803160 | rs553324420 | S>N | B:1806 | (1.84, 12.36, -48.78) |
| 7:141803168 | rs200374214 | V>I | B:1809 | (6.30, 4.91, -47.77) |
| 7:141803186 | S>P | B:1815 | (-1.01, -9.55, -51.95) | |
| 7:141803189 | V>M | B:1816 | (-1.99, -12.65, -49.08) | |
| 7:141803192 | S>G | B:1817 | (-3.90, -15.86, -51.30) | |
| 7:141803199 | M>R | B:1819 | (0.44, -16.71, -51.30) | |
| 7:141803208 | T>R | B:1822 | (4.99, -8.08, -55.39) | |
| 7:141803211 | P>L | B:1823 | (1.82, -6.69, -57.46) | |
| 7:141803214 | S>F | B:1824 | (2.45, -3.64, -60.43) | |
| 7:141803220 | N>S | B:1826 | (0.08, 3.08, -60.34) | |
| 7:141803232 | T>M | B:1830 | (-1.00, 14.90, -55.24) | |
| 7:141803238 | rs200238903 | Q>R | B:1832 | (-3.69, 10.28, -51.06) |
| 7:141805632 | T>S | B:1839 | (-6.25, -8.44, -64.59) | |
| 7:141805636 | D>G | B:1840 | (-2.77, -10.45, -64.66) | |
| 7:141805648 | S>N | B:1844 | (-11.14, -15.16, -55.81) | |
| 7:141805656 | N>D | B:1847 | (-8.52, -17.30, -52.80) | |
| 7:141805662 | T>A | B:1849 | (-6.27, -12.46, -47.63) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:141752214 | COSM3634596 | E>K | B:976 | (-75.54, 28.30, -33.67) |
| 7:141752215 | COSM150408 | E>A | B:976 | (-75.54, 28.30, -33.67) |
| 7:141752605 | COSM3634606 | P>S | B:994 | (-59.17, 27.19, -34.73) |
| 7:141752684 | COSM599582 | S>F | B:1020 | (-65.88, 7.34, -19.17) |
| 7:141752740 | COSM3634629 | R>C | B:1039 | (-59.65, -1.40, -21.32) |
| 7:141754666 | COSM2862205 | P>L | B:1091 | (-57.04, 16.28, -19.05) |
| 7:141754683 | COSM262004 | R>C | B:1097 | (-40.37, 9.87, -19.29) |
| 7:141755422 | COSM229081 | P>S | B:1127 | (-40.96, 16.35, -28.94) |
| 7:141755423 | COSM3634662 | P>L | B:1127 | (-40.96, 16.35, -28.94) |
| 7:141755813 | COSM229084 | S>F | B:1166 | (-52.16, 9.15, -53.09) |
| 7:141756665 | COSM3662990 | R>C | B:1206 | (-59.05, 14.53, -37.77) |
| 7:141759293 | COSM1086509 | D>N | B:1281 | (-50.30, -1.39, -74.89) |
| 7:141759707 | COSM1622458 | G>S | B:1334 | (-64.12, -16.15, -61.24) |
| 7:141760126 | COSM3634729 | P>S | B:1359 | (-66.42, -5.99, -77.27) |
| 7:141762434 | COSM2862319 | E>K | B:1397 | (-55.20, -16.63, -64.81) |
| 7:141764277 | COSM1622459 | N>T | B:1480 | (-63.12, -0.92, -42.53) |
| 7:141765139 | COSM1622462 | V>M | B:1497 | (-43.81, -14.57, -59.74) |
| 7:141765190 | COSM3634766 | P>S | B:1514 | (-48.14, -0.58, -43.28) |
| 7:141794453 | COSM1488303 | Y>F | B:1551 | (-37.12, -1.89, -55.75) |
| 7:141795366 | COSM4153912 | R>K | B:1591 | (-39.30, 8.28, -78.12) |
| 7:141795408 | COSM3634785 | S>F | B:1605 | (-26.75, 8.07, -70.52) |
| 7:141796213 | COSM1086544 | R>C | B:1668 | (-34.07, 25.24, -66.01) |
| 7:141799479 | COSM2862584 | H>Y | B:1710 | (-18.62, 12.70, -53.21) |
| 7:141799531 | COSM3634832 | H>P | B:1727 | (-25.55, -12.53, -67.90) |
| 7:141800678 | COSM599539 | G>W | B:1755 | (-29.39, -13.44, -57.90) |
| 7:141803141 | COSM2862622 | E>K | B:1800 | (-9.09, 1.88, -56.41) |