General Structure Information
| PDB ID | 4f91 |
| HGNC Gene Label(s) | SNRNP200 |
| Structure Name | brr2 helicase region |
| Resolution | 2.7Å |
| Reference | AUTH K.F.SANTOS,S.M.JOVIN,G.WEBER,V.PENA,R.LUHRMANN,M.C.WAHLTITL STRUCTURAL BASIS FOR FUNCTIONAL COOPERATION BETWEEN TANDEMTITL 2 HELICASE CASSETTES IN BRR2-MEDIATED REMODELING OF THETITL 3 SPLICEOSOME.REF PROC.NATL.ACAD.SCI.USA V. 109 17418 2012REFN ISSN 0027-8424PMID 23045696DOI 10.1073/PNAS.1208098109 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 1724 |
| Number Of SNVs | 243 |
| Number Of Permutations | 93182 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.002 |
| p-value | 0.498 |
ClinVar
| Number Of Residues | 1724 |
| Number Of SNVs | 7 |
| Number Of Permutations | 6209 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.143 |
| p-value | 0.0 |
COSMIC

Ripley’s K Analysis Plots
ExACClinVarCOSMIC



Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 243 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.139 |
| p-value | 0.0 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 243 |
| Number Of COSMIC SNVs | 11 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | -0.048 |
| p-value | 0.361 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis


COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:96963262 | R>W | B:406 | (17.44, -22.91, 14.02) | |
| 2:96963198 | R>H | B:427 | (45.40, 3.85, 14.96) | |
| 2:96963162 | R>H | B:439 | (56.46, 17.55, 35.37) | |
| 2:96963138 | rs565552426 | V>E | B:447 | (45.22, 19.11, 24.18) |
| 2:96963132 | A>V | B:449 | (42.38, 25.42, 22.51) | |
| 2:96963117 | P>L | B:454 | (35.40, 31.53, 11.69) | |
| 2:96963108 | S>L | B:457 | (28.64, 30.20, 4.38) | |
| 2:96962775 | A>T | B:471 | (8.09, 30.73, 20.12) | |
| 2:96962768 | rs367687155 | A>G | B:473 | (8.22, 32.30, 24.49) |
| 2:96962754 | rs373699900 | F>L | B:478 | (18.11, 33.66, 25.90) |
| 2:96962750 | K>R | B:479 | (18.99, 39.66, 22.38) | |
| 2:96962739 | R>W | B:483 | (27.89, 29.06, 15.56) | |
| 2:96962724 | L>V | B:488 | (19.35, 23.36, 14.29) | |
| 2:96962718 | R>C | B:490 | (15.33, 27.08, 8.97) | |
| 2:96962702 | rs139286118 | T>M | B:495 | (10.95, 20.24, 10.27) |
| 2:96962695 | E>D | B:497 | (12.67, 15.16, 9.57) | |
| 2:96962400 | rs200363070 | M>I | B:515 | (13.75, 24.68, 19.11) |
| 2:96962398 | C>S | B:516 | (11.67, 20.47, 18.95) | |
| 2:96962395 | rs374265902 | M>T | B:517 | (9.55, 20.62, 22.93) |
| 2:96962389 | R>Q | B:519 | (6.87, 22.12, 14.84) | |
| 2:96962372 | I>V | B:525 | (-2.59, 27.28, 18.35) | |
| 2:96962364 | rs148170370 | M>I | B:527 | (-7.26, 31.93, 18.36) |
| 2:96962350 | N>S | B:532 | (-5.11, 22.18, 22.71) | |
| 2:96962345 | D>N | B:534 | (-5.67, 17.60, 27.02) | |
| 2:96962324 | rs552058312 | I>V | B:541 | (14.71, 9.87, 27.61) |
| 2:96962312 | R>C | B:545 | (17.37, 8.36, 39.47) | |
| 2:96961395 | R>H | B:558 | (12.61, 28.12, 29.08) | |
| 2:96961396 | R>C | B:558 | (12.61, 28.12, 29.08) | |
| 2:96961387 | T>A | B:561 | (4.20, 31.44, 29.24) | |
| 2:96961383 | Y>C | B:562 | (3.96, 28.40, 26.14) | |
| 2:96961381 | G>S | B:563 | (0.51, 26.04, 30.26) | |
| 2:96961334 | rs199985246 | E>D | B:578 | (-4.15, 8.81, 36.36) |
| 2:96961315 | rs533005031 | I>V | B:585 | (6.83, 17.48, 29.25) |
| 2:96961309 | V>F | B:587 | (11.20, 13.93, 32.45) | |
| 2:96961285 | I>V | B:595 | (9.06, -0.48, 33.48) | |
| 2:96961275 | R>H | B:598 | (8.82, -4.19, 29.74) | |
| 2:96961276 | rs367922991 | R>C | B:598 | (8.82, -4.19, 29.74) |
| 2:96961246 | L>V | B:608 | (-1.30, 11.51, 23.43) | |
| 2:96961240 | R>W | B:610 | (2.54, 12.76, 18.88) | |
| 2:96959226 | D>N | B:622 | (26.63, 2.04, 28.81) | |
| 2:96959207 | L>S | B:628 | (18.23, 3.40, 24.50) | |
| 2:96959192 | A>V | B:633 | (12.48, -0.50, 18.53) | |
| 2:96959193 | A>T | B:633 | (12.48, -0.50, 18.53) | |
| 2:96959186 | A>G | B:635 | (8.76, 3.04, 18.97) | |
| 2:96959180 | rs539947579 COSM1023890 |
R>Q | B:637 | (6.93, -2.43, 14.32) |
| 2:96959174 | rs375172360 | I>T | B:639 | (5.38, 4.54, 14.21) |
| 2:96959154 | V>I | B:646 | (6.41, 9.83, 16.53) | |
| 2:96959120 | N>I | B:657 | (29.72, 4.93, 15.04) | |
| 2:96959117 | Y>C | B:658 | (28.11, 10.50, 13.29) | |
| 2:96959093 | R>H | B:666 | (14.26, 5.63, 10.27) | |
| 2:96959094 | rs200546584 | R>C | B:666 | (14.26, 5.63, 10.27) |
| 2:96959088 | D>N | B:668 | (17.67, 12.34, 6.11) | |
| 2:96959085 | P>S | B:669 | (21.46, 12.08, 6.15) | |
| 2:96959070 | F>I | B:674 | (22.62, 18.60, 12.13) | |
| 2:96959060 | rs371902310 | D>G | B:677 | (34.19, 20.04, 15.77) |
| 2:96958808 | T>A | B:688 | (45.76, 18.04, 31.14) | |
| 2:96958796 | I>V | B:692 | (49.81, 7.53, 37.44) | |
| 2:96958748 | rs191245006 | V>I | B:708 | (45.22, 19.39, 43.09) |
| 2:96958730 | E>Q | B:714 | (47.89, 28.51, 37.78) | |
| 2:96958715 | N>D | B:719 | (39.15, 31.88, 38.65) | |
| 2:96957613 | K>R | B:729 | (34.17, 9.70, 51.68) | |
| 2:96957584 | COSM72750 | R>W | B:739 | (42.90, 23.04, 54.87) |
| 2:96957576 | M>I | B:741 | (49.47, 20.51, 52.23) | |
| 2:96957567 | E>D | B:744 | (51.46, 22.48, 55.71) | |
| 2:96957523 | T>I | B:759 | (34.72, 41.33, 49.91) | |
| 2:96957227 | rs201944329 | K>R | B:775 | (30.43, 26.99, 59.84) |
| 2:96957216 | P>S | B:779 | (35.05, 31.33, 56.20) | |
| 2:96957194 | H>R | B:786 | (27.63, 15.80, 49.75) | |
| 2:96957153 | L>I | B:800 | (26.86, 31.58, 47.38) | |
| 2:96957148 | rs142749600 | F>L | B:801 | (30.31, 28.51, 42.58) |
| 2:96957134 | I>T | B:806 | (31.89, 29.69, 46.42) | |
| 2:96956460 | G>R | B:839 | (31.87, -5.93, 42.95) | |
| 2:96956456 | R>H | B:840 | (34.67, -5.13, 39.90) | |
| 2:96956433 | D>N | B:848 | (29.96, 10.10, 34.27) | |
| 2:96956141 | rs140087655 | I>V | B:889 | (29.04, 4.57, 19.63) |
| 2:96956107 | M>T | B:900 | (15.58, -6.91, 26.02) | |
| 2:96956090 | V>M | B:906 | (5.32, -10.52, 27.16) | |
| 2:96956065 | COSM3972397 | K>R | B:914 | (10.48, -14.61, 10.87) |
| 2:96955731 | A>T | B:916 | (12.69, -11.99, 16.35) | |
| 2:96955719 | L>M | B:920 | (17.37, -8.10, 16.14) | |
| 2:96955692 | M>V | B:929 | (26.36, -6.75, 13.10) | |
| 2:96955677 | rs149616320 | T>A | B:934 | (35.26, -7.87, 12.32) |
| 2:96955655 | rs372777445 | D>G | B:941 | (33.66, -14.87, 4.33) |
| 2:96955656 | rs545475705 | D>N | B:941 | (33.66, -14.87, 4.33) |
| 2:96955643 | G>A | B:945 | (26.12, -14.26, 1.61) | |
| 2:96955627 | D>E | B:950 | (19.37, -13.81, 7.72) | |
| 2:96955623 | COSM3783450 | R>C | B:952 | (25.21, -13.82, 13.97) |
| 2:96955619 | COSM1023884 | R>Q | B:953 | (19.04, -11.40, 12.31) |
| 2:96955608 | rs559479531 | V>I | B:957 | (17.00, -15.57, 18.58) |
| 2:96955595 | A>V | B:961 | (15.26, -19.05, 23.40) | |
| 2:96955596 | A>S | B:961 | (15.26, -19.05, 23.40) | |
| 2:96955560 | D>N | B:973 | (9.07, -25.49, 19.48) | |
| 2:96955544 | N>T | B:978 | (6.34, -20.90, 18.75) | |
| 2:96955117 | V>M | B:981 | (4.14, -16.42, 27.39) | |
| 2:96955108 | L>V | B:984 | (7.51, -17.12, 35.64) | |
| 2:96955104 | G>V | B:985 | (7.77, -14.01, 32.21) | |
| 2:96955077 | T>I | B:994 | (17.14, -11.61, 35.45) | |
| 2:96955074 | rs143494993 | N>S | B:995 | (16.49, -15.01, 33.06) |
| 2:96955053 | rs143529458 | N>S | B:1002 | (10.33, -21.71, 40.08) |
| 2:96955011 | rs376963853 | R>T | B:1016 | (18.77, -17.96, 51.40) |
| 2:96954976 | T>A | B:1028 | (31.70, -9.78, 47.72) | |
| 2:96954842 | E>G | B:1036 | (29.75, -2.74, 60.04) | |
| 2:96954819 | V>L | B:1044 | (18.59, -7.41, 62.68) | |
| 2:96954816 | P>T | B:1045 | (14.99, -9.00, 63.32) | |
| 2:96954794 | I>T | B:1052 | (28.77, -17.54, 57.97) | |
| 2:96954478 | V>I | B:1061 | (21.87, -8.10, 57.00) | |
| 2:96954418 | M>V | B:1081 | (22.13, -0.50, 51.73) | |
| 2:96954411 | COSM1615271 | Y>C | B:1083 | (22.55, -2.87, 43.68) |
| 2:96953706 | rs267607077 CM097780 |
S>L | B:1087 | (16.07, -3.54, 44.00) |
| 2:96953697 | rs397514574 CM100404 |
R>Q | B:1090 | (12.03, -4.13, 40.91) |
| 2:96953692 | rs370783235 | M>V | B:1092 | (9.46, -8.91, 47.29) |
| 2:96953688 | R>Q | B:1093 | (4.81, -5.95, 44.89) | |
| 2:96953686 | COSM576393 | A>P | B:1094 | (7.63, -10.35, 41.85) |
| 2:96953680 | F>L | B:1096 | (2.44, -10.44, 45.83) | |
| 2:96953664 | N>S | B:1101 | (-1.26, -16.76, 40.17) | |
| 2:96953661 | R>Q | B:1102 | (1.94, -20.31, 41.88) | |
| 2:96953658 | G>D | B:1103 | (-2.64, -19.48, 46.04) | |
| 2:96953627 | N>K | B:1113 | (3.55, -7.58, 54.79) | |
| 2:96953611 | D>N | B:1119 | (7.43, 1.41, 50.95) | |
| 2:96953264 | R>W | B:1133 | (5.80, 11.26, 56.23) | |
| 2:96953233 | I>T | B:1143 | (2.54, 3.85, 71.53) | |
| 2:96953186 | N>D | B:1159 | (-8.42, 12.93, 77.35) | |
| 2:96953179 | rs202181016 | I>S | B:1161 | (-4.66, 8.74, 73.97) |
| 2:96952845 | L>V | B:1180 | (-6.55, 9.62, 58.88) | |
| 2:96952823 | S>L | B:1187 | (-20.96, -7.37, 54.33) | |
| 2:96952806 | I>V | B:1193 | (-25.53, -21.13, 41.88) | |
| 2:96952800 | R>C | B:1195 | (-24.49, -29.67, 45.60) | |
| 2:96952769 | rs376746667 | T>M | B:1205 | (-18.35, 0.05, 54.30) |
| 2:96952608 | G>D | B:1216 | (-5.39, 10.90, 47.93) | |
| 2:96952567 | rs372772120 | S>G | B:1230 | (-5.77, -19.92, 55.57) |
| 2:96952563 | E>G | B:1231 | (-3.65, -23.84, 53.54) | |
| 2:96952560 | V>G | B:1232 | (-6.04, -21.88, 49.42) | |
| 2:96952558 | I>V | B:1233 | (-6.07, -17.81, 47.45) | |
| 2:96952547 | H>Q | B:1236 | (-7.40, -12.97, 43.40) | |
| 2:96952549 | COSM722843 | H>Y | B:1236 | (-7.40, -12.97, 43.40) |
| 2:96952506 | rs548219706 | H>R | B:1250 | (-18.38, 0.43, 47.25) |
| 2:96952503 | rs371914687 | L>R | B:1251 | (-21.75, -4.72, 45.63) |
| 2:96952498 | rs531287899 | T>A | B:1253 | (-20.02, -9.68, 42.53) |
| 2:96952434 | R>H | B:1274 | (1.17, 1.18, 49.08) | |
| 2:96952435 | R>C | B:1274 | (1.17, 1.18, 49.08) | |
| 2:96952428 | rs562616308 | L>H | B:1276 | (1.80, -2.01, 57.40) |
| 2:96952217 | rs370235055 | E>K | B:1279 | (-6.23, -7.25, 57.55) |
| 2:96952111 | N>S | B:1314 | (-45.99, -31.57, 2.34) | |
| 2:96952109 | S>G | B:1315 | (-44.22, -31.25, -1.38) | |
| 2:96952106 | A>S | B:1316 | (-44.74, -27.58, 0.10) | |
| 2:96952096 | S>N | B:1319 | (-39.63, -26.24, -0.62) | |
| 2:96952083 | rs541824473 | D>E | B:1323 | (-33.06, -25.52, -2.29) |
| 2:96952059 | I>M | B:1331 | (-30.31, -31.77, 17.80) | |
| 2:96951051 | D>G | B:1344 | (-46.98, -33.48, 22.68) | |
| 2:96951048 | rs566448118 | N>S | B:1345 | (-46.19, -30.28, 25.62) |
| 2:96951013 | T>A | B:1357 | (-35.62, -21.81, 14.74) | |
| 2:96951008 | I>M | B:1358 | (-36.09, -25.63, 12.38) | |
| 2:96950973 | rs114028687 | Q>L | B:1370 | (-54.05, -30.98, 11.84) |
| 2:96950969 | S>R | B:1371 | (-55.43, -25.95, 10.72) | |
| 2:96950967 | S>L | B:1372 | (-56.88, -24.16, 7.88) | |
| 2:96950963 | E>D | B:1373 | (-57.50, -19.58, 9.34) | |
| 2:96950958 | R>H | B:1375 | (-54.69, -18.05, 15.96) | |
| 2:96950959 | R>C | B:1375 | (-54.69, -18.05, 15.96) | |
| 2:96950947 | I>V | B:1379 | (-42.96, -15.34, 22.64) | |
| 2:96950934 | E>A | B:1383 | (-37.51, -5.82, 19.71) | |
| 2:96950323 | rs143898031 | V>I | B:1389 | (-38.25, -14.52, 13.36) |
| 2:96950307 | Y>F | B:1394 | (-44.05, -11.89, 5.22) | |
| 2:96950283 | rs560485569 | N>S | B:1402 | (-49.70, -17.84, 0.99) |
| 2:96950269 | L>V | B:1407 | (-44.84, -7.88, 14.49) | |
| 2:96950257 | rs185671719 | E>K | B:1411 | (-51.24, 1.00, 19.31) |
| 2:96950218 | I>V | B:1424 | (-47.85, -17.00, 12.70) | |
| 2:96950202 | P>H | B:1429 | (-42.93, -10.69, 26.45) | |
| 2:96950203 | rs200737497 | P>A | B:1429 | (-42.93, -10.69, 26.45) |
| 2:96950145 | I>S | B:1448 | (-53.91, -20.59, 20.90) | |
| 2:96950142 | rs575003767 COSM4096369 |
N>S | B:1449 | (-53.78, -24.33, 18.09) |
| 2:96950128 | rs561328120 | D>H | B:1454 | (-37.11, -18.83, 21.86) |
| 2:96950115 | L>P | B:1458 | (-33.71, -15.10, 29.11) | |
| 2:96950112 | I>T | B:1459 | (-36.81, -17.14, 33.14) | |
| 2:96950113 | I>F | B:1459 | (-36.81, -17.14, 33.14) | |
| 2:96950097 | G>E | B:1464 | (-38.21, -12.75, 33.17) | |
| 2:96949687 | R>Q | B:1483 | (-61.18, -27.37, 24.41) | |
| 2:96949651 | S>F | B:1495 | (-28.86, -27.80, 34.70) | |
| 2:96949648 | COSM1669142 | N>S | B:1496 | (-32.41, -26.61, 35.85) |
| 2:96949645 | A>V | B:1497 | (-34.65, -28.86, 32.61) | |
| 2:96949574 | rs191776366 | V>I | B:1521 | (-20.47, -27.13, 14.91) |
| 2:96949559 | H>N | B:1526 | (-9.37, -20.89, 23.25) | |
| 2:96949442 | I>V | B:1532 | (-5.27, -5.38, 33.51) | |
| 2:96949436 | H>Y | B:1534 | (-7.90, 0.86, 34.50) | |
| 2:96949400 | V>M | B:1546 | (-7.47, -9.45, 18.60) | |
| 2:96949375 | rs143666966 | S>L | B:1554 | (-9.30, -17.33, 11.42) |
| 2:96949358 | I>V | B:1560 | (-17.50, -11.79, 14.79) | |
| 2:96949327 | rs201294843 | R>H | B:1570 | (-14.16, 4.23, 15.06) |
| 2:96949328 | rs201501591 | R>C | B:1570 | (-14.16, 4.23, 15.06) |
| 2:96949315 | rs199736893 | I>T | B:1574 | (-8.72, 1.55, 12.78) |
| 2:96949068 | D>N | B:1596 | (-16.34, -5.77, -6.82) | |
| 2:96949031 | T>M | B:1608 | (-14.57, 5.44, 8.59) | |
| 2:96949008 | G>R | B:1616 | (-12.04, -5.83, 5.21) | |
| 2:96949005 | V>L | B:1617 | (-12.79, -4.38, 8.33) | |
| 2:96948974 | rs201927374 | M>T | B:1627 | (-28.75, 0.77, 5.10) |
| 2:96948975 | rs556669919 | M>V | B:1627 | (-28.75, 0.77, 5.10) |
| 2:96948968 | R>Q | B:1629 | (-27.19, -2.08, 11.13) | |
| 2:96948965 | R>H | B:1630 | (-30.05, -3.40, 5.97) | |
| 2:96948944 | S>I | B:1637 | (-22.34, -13.35, 4.53) | |
| 2:96947639 | A>G | B:1646 | (-19.50, -5.49, 17.21) | |
| 2:96947633 | rs200426430 | R>Q | B:1648 | (-23.11, -5.27, 24.91) |
| 2:96947634 | rs377595031 | R>W | B:1648 | (-23.11, -5.27, 24.91) |
| 2:96947610 | rs142585893 | V>M | B:1656 | (-24.00, -12.93, 10.89) |
| 2:96947595 | rs376199066 | V>L | B:1661 | (-16.22, -15.37, 18.09) |
| 2:96947588 | rs145701974 | I>T | B:1663 | (-15.63, -11.89, 23.52) |
| 2:96947589 | rs372940792 | I>V | B:1663 | (-15.63, -11.89, 23.52) |
| 2:96947567 | N>S | B:1670 | (-23.10, 1.57, 35.83) | |
| 2:96947552 | rs541112526 | A>V | B:1675 | (-18.86, 0.75, 37.96) |
| 2:96947553 | A>T | B:1675 | (-18.86, 0.75, 37.96) | |
| 2:96945245 | rs375062852 | R>C | B:1693 | (-19.32, -21.13, 8.88) |
| 2:96945238 | L>S | B:1695 | (-22.94, -25.46, 5.44) | |
| 2:96945230 | COSM576398 | D>N | B:1698 | (-15.31, -29.05, 10.18) |
| 2:96945226 | E>A | B:1699 | (-13.80, -26.11, 13.06) | |
| 2:96945199 | G>D | B:1708 | (-8.95, -12.85, 35.70) | |
| 2:96944725 | K>N | B:1715 | (-12.84, -22.38, 32.78) | |
| 2:96944636 | I>T | B:1745 | (-56.44, -12.74, 42.40) | |
| 2:96944618 | A>V | B:1751 | (-52.52, -15.77, 45.32) | |
| 2:96944585 | R>H | B:1762 | (-42.32, -25.79, 40.18) | |
| 2:96944555 | N>T | B:1772 | (-33.75, -16.16, 52.13) | |
| 2:96944437 | R>H | B:1779 | (-42.88, -26.62, 57.84) | |
| 2:96944369 | I>V | B:1802 | (-55.34, -3.39, 46.80) | |
| 2:96944351 | M>L | B:1808 | (-60.07, -13.42, 53.18) | |
| 2:96944345 | V>M | B:1810 | (-58.71, -8.70, 47.32) | |
| 2:96944318 | A>T | B:1819 | (-51.85, 0.56, 36.26) | |
| 2:96944306 | Y>H | B:1823 | (-47.85, -3.07, 31.37) | |
| 2:96944066 | T>I | B:1840 | (-49.64, 21.16, 38.54) | |
| 2:96944040 | I>V | B:1849 | (-43.20, 11.95, 33.54) | |
| 2:96944033 | N>S | B:1851 | (-39.51, 10.96, 38.63) | |
| 2:96944034 | N>H | B:1851 | (-39.51, 10.96, 38.63) | |
| 2:96943990 | D>E | B:1865 | (-20.76, 12.75, 33.57) | |
| 2:96943676 | V>I | B:1875 | (-32.48, 23.30, 28.64) | |
| 2:96943639 | P>L | B:1887 | (-31.84, 8.17, 35.83) | |
| 2:96943634 | rs200367764 | V>I | B:1889 | (-31.82, 14.24, 35.92) |
| 2:96943598 | R>C | B:1901 | (-37.64, 20.47, 17.09) | |
| 2:96943585 | S>T | B:1905 | (-25.53, 11.55, 21.07) | |
| 2:96943564 | COSM1532930 | T>M | B:1912 | (-34.81, 10.03, 23.47) |
| 2:96943410 | N>S | B:1933 | (-58.55, 14.07, 41.99) | |
| 2:96943399 | S>G | B:1937 | (-55.97, 23.54, 34.70) | |
| 2:96943375 | L>V | B:1945 | (-47.23, 17.11, 27.51) | |
| 2:96943315 | H>Y | B:1965 | (-39.35, 21.00, 5.48) | |
| 2:96943297 | I>V | B:1971 | (-42.10, 31.49, 11.77) | |
| 2:96943290 | COSM1023864 | R>H | B:1973 | (-40.32, 37.53, 6.52) |
| 2:96942978 | rs75956769 | G>A | B:1978 | (-50.53, 36.88, 9.68) |
| 2:96942979 | G>R | B:1978 | (-50.53, 36.88, 9.68) | |
| 2:96942975 | V>A | B:1979 | (-49.45, 33.53, 9.03) | |
| 2:96942955 | M>V | B:1986 | (-55.66, 25.31, 4.77) | |
| 2:96942928 | rs201691299 | A>T | B:1995 | (-45.13, 32.96, -2.46) |
| 2:96942924 | L>S | B:1996 | (-44.72, 33.33, 1.87) | |
| 2:96942886 | R>C | B:2009 | (-48.76, 13.96, 3.57) | |
| 2:96942862 | I>V | B:2017 | (-62.87, 18.25, 13.75) | |
| 2:96942841 | rs376585390 | V>I | B:2024 | (-80.74, 16.16, 27.36) |
| 2:96942829 | S>G | B:2028 | (-86.24, 19.03, 33.08) | |
| 2:96942823 | rs150442718 | R>C | B:2030 | (-84.01, 20.00, 40.58) |
| 2:96942719 | COSM117360 | G>R | B:2033 | (-79.43, 15.42, 39.51) |
| 2:96942710 | V>M | B:2036 | (-77.17, 14.10, 29.72) | |
| 2:96942673 | T>I | B:2048 | (-56.42, 7.12, 5.28) | |
| 2:96942653 | L>V | B:2055 | (-39.75, 14.50, 15.65) | |
| 2:96942650 | F>L | B:2056 | (-43.28, 9.97, 18.54) | |
| 2:96941083 | R>H | B:2060 | (-49.47, 8.10, 18.40) | |
| 2:96940866 | rs140574531 | T>A | B:2099 | (-79.22, 28.01, 42.54) |
| 2:96940853 | N>S | B:2103 | (-71.59, 29.45, 33.59) | |
| 2:96940791 | rs377640627 | V>M | B:2124 | (-77.58, 24.60, 32.88) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:96959219 | rs527236115 | R>K | B:624 | (22.20, 2.56, 31.34) |
| 2:96958828 | rs527236113 | R>H | B:681 | (33.27, 23.65, 24.25) |
| 2:96958823 | rs527236114 | V>L | B:683 | (34.29, 27.79, 26.46) |
| 2:96956213 | rs786205529 | G>S | B:865 | (39.47, 26.58, 29.71) |
| 2:96956153 | rs397514575 | Q>E | B:885 | (35.93, 13.90, 18.35) |
| 2:96953706 | rs267607077 | S>L | B:1087 | (16.07, -3.54, 44.00) |
| 2:96953697 | rs397514574 | R>L | B:1090 | (12.03, -4.13, 40.91) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:96959180 | COSM1023890 | R>Q | B:637 | (6.93, -2.43, 14.32) |
| 2:96957583 | COSM1410040 | R>Q | B:739 | (42.90, 23.04, 54.87) |
| 2:96957584 | COSM72750 | R>W | B:739 | (42.90, 23.04, 54.87) |
| 2:96956189 | COSM1752731 | H>Y | B:873 | (50.08, 5.37, 31.78) |
| 2:96955685 | COSM1615272 | R>P | B:931 | (27.68, -0.06, 8.69) |
| 2:96955584 | COSM1669144 | D>Y | B:965 | (13.05, -23.09, 27.54) |
| 2:96954411 | COSM1615271 | Y>C | B:1083 | (22.55, -2.87, 43.68) |
| 2:96953198 | COSM1227002 | D>N | B:1155 | (-12.27, 2.24, 71.47) |
| 2:96952745 | COSM76535 | K>R | B:1213 | (-2.74, 16.20, 52.75) |
| 2:96952163 | COSM1690787 | P>S | B:1297 | (-27.96, -36.56, 33.49) |
| 2:96950164 | COSM1023876 | R>C | B:1442 | (-58.91, -9.58, 25.06) |
| 2:96949427 | COSM4594071 | T>P | B:1537 | (-5.54, -0.34, 30.41) |
| 2:96949346 | COSM722846 | P>S | B:1564 | (-17.64, -3.04, 24.85) |
| 2:96944664 | COSM1565924 | F>L | B:1736 | (-50.31, -10.69, 42.51) |
| 2:96944599 | COSM1196369 | W>C | B:1757 | (-50.37, -23.27, 37.29) |
| 2:96944582 | COSM304374 | R>H | B:1763 | (-35.32, -24.07, 41.54) |
| 2:96944019 | COSM1752730 | E>K | B:1856 | (-34.47, 3.63, 37.51) |
| 2:96942927 | COSM241703 | A>V | B:1995 | (-45.13, 32.96, -2.46) |