General Structure Information
| PDB ID | 4k0v |
| HGNC Gene Label(s) | TEK |
| Structure Name | structural basis for angiopoietin-1 mediated signaling initiation |
| Resolution | 4.51Å |
| Reference | AUTH X.YU,T.C.SEEGAR,A.C.DALTON,D.TZVETKOVA-ROBEV,Y.GOLDGUR,AUTH 2 K.R.RAJASHANKAR,D.B.NIKOLOV,W.A.BARTONTITL STRUCTURAL BASIS FOR ANGIOPOIETIN-1-MEDIATED SIGNALINGTITL 2 INITIATION.REF PROC.NATL.ACAD.SCI.USA V. 110 7205 2013REFN ISSN 0027-8424PMID 23592718DOI 10.1073/PNAS.1216890110 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 514 |
| Number Of SNVs | 126 |
| Number Of Permutations | 82777 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.03 |
| p-value | 0.335 |
COSMIC
| Number Of Residues | 514 |
| Number Of SNVs | 11 |
| Number Of Permutations | 7388 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.418 |
| p-value | 0.115 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 126 |
| Number Of COSMIC SNVs | 9 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | 0.218 |
| p-value | 0.347 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 9:27157859 | L>W | A:28 | (-39.41, -15.01, -1.00) | |
| 9:27157876 | L>F | A:34 | (-44.79, -15.10, -15.03) | |
| 9:27157879 | V>I | A:35 | (-47.80, -19.14, -14.53) | |
| 9:27157898 | S>F | A:41 | (-41.76, -22.25, -6.86) | |
| 9:27157912 | A>T | A:46 | (-34.36, -19.01, 7.18) | |
| 9:27157913 | rs200755526 | A>V | A:46 | (-34.36, -19.01, 7.18) |
| 9:27157924 | R>C | A:50 | (-29.97, -24.81, 18.51) | |
| 9:27157925 | COSM2771434 COSM277643 |
R>H | A:50 | (-29.97, -24.81, 18.51) |
| 9:27157927 | rs140406342 | P>S | A:51 | (-35.28, -23.24, 16.69) |
| 9:27157931 | H>R | A:52 | (-35.58, -23.69, 12.53) | |
| 9:27157934 | E>V | A:53 | (-39.18, -19.75, 14.58) | |
| 9:27157936 | P>A | A:54 | (-42.84, -21.10, 12.54) | |
| 9:27157937 | P>H | A:54 | (-42.84, -21.10, 12.54) | |
| 9:27157941 | I>M | A:55 | (-41.92, -20.60, 7.84) | |
| 9:27157942 | T>P | A:56 | (-45.98, -18.66, 7.37) | |
| 9:27157964 | rs369048700 | A>G | A:63 | (-53.65, -6.89, -1.27) |
| 9:27157969 | rs373772509 | M>V | A:65 | (-60.07, -7.97, -2.12) |
| 9:27157971 | M>I | A:65 | (-60.07, -7.97, -2.12) | |
| 9:27157973 | N>S | A:66 | (-61.95, -10.99, -4.27) | |
| 9:27157983 | Q>H | A:69 | (-61.24, -19.99, -0.35) | |
| 9:27157985 | D>G | A:70 | (-56.84, -23.39, -1.92) | |
| 9:27157988 | rs144348052 | P>L | A:71 | (-55.98, -25.23, 1.19) |
| 9:27158000 | T>I | A:75 | (-43.67, -28.58, 1.66) | |
| 9:27158008 | rs575190843 | V>M | A:78 | (-34.10, -30.24, 1.27) |
| 9:27158009 | rs146302981 | V>A | A:78 | (-34.10, -30.24, 1.27) |
| 9:27158020 | W>R | A:82 | (-36.38, -24.04, 8.37) | |
| 9:27158030 | K>R | A:85 | (-40.94, -26.32, -1.00) | |
| 9:27158032 | V>I | A:86 | (-45.32, -23.86, -2.27) | |
| 9:27158043 | K>N | A:89 | (-47.62, -30.30, -8.96) | |
| 9:27158047 | E>Q | A:91 | (-51.43, -29.17, -16.28) | |
| 9:27158085 | rs572527340 | E>D | A:103 | (-45.15, -14.80, 8.68) |
| 9:27158090 | R>Q | A:105 | (-43.19, -14.71, 13.38) | |
| 9:27158096 | rs370256501 | R>Q | A:107 | (-38.91, -9.91, 22.11) |
| 9:27158107 | I>V | A:111 | (-40.88, -10.26, 8.93) | |
| 9:27158113 | I>V | A:113 | (-41.70, -11.01, 2.06) | |
| 9:27158122 | rs201999962 | M>V | A:116 | (-47.11, -11.11, -6.95) |
| 9:27158131 | R>C | A:119 | (-53.71, -16.16, -15.87) | |
| 9:27158132 | COSM1624887 COSM1624886 |
R>H | A:119 | (-53.71, -16.16, -15.87) |
| 9:27168501 | L>I | A:125 | (-46.92, -7.89, -18.80) | |
| 9:27168517 | rs201071647 | T>S | A:130 | (-41.76, -4.06, -6.80) |
| 9:27168552 | rs568787338 | S>T | A:142 | (-46.78, 0.25, -16.10) |
| 9:27168571 | rs35969327 | I>T | A:148 | (-54.83, -6.94, -28.62) |
| 9:27168576 | E>K | A:150 | (-62.63, -5.05, -29.82) | |
| 9:27169483 | I>F | A:162 | (-59.62, 2.91, -9.94) | |
| 9:27169484 | I>N | A:162 | (-59.62, 2.91, -9.94) | |
| 9:27169499 | rs573385848 | R>Q | A:167 | (-63.52, -0.44, -27.88) |
| 9:27169517 | I>N | A:173 | (-47.53, 2.23, -22.45) | |
| 9:27169568 | S>L | A:190 | (-54.57, -4.73, -11.20) | |
| 9:27169601 | rs540914328 COSM3675316 COSM3675315 |
S>L | A:201 | (-55.17, -9.95, -14.20) |
| 9:27169612 | R>G | A:205 | (-46.21, -4.11, -3.68) | |
| 9:27169621 | V>I | A:208 | (-44.99, 4.49, -0.24) | |
| 9:27169624 | R>W | A:209 | (-39.88, 5.38, 2.36) | |
| 9:27172650 | rs144378392 | H>L | A:222 | (-33.84, 11.09, 12.27) |
| 9:27172662 | rs35814893 | A>V | A:226 | (-26.00, 5.98, 2.65) |
| 9:27172667 | M>V | A:228 | (-24.30, 3.27, -1.92) | |
| 9:27172668 | rs374382893 | M>T | A:228 | (-24.30, 3.27, -1.92) |
| 9:27172686 | H>R | A:234 | (-36.37, 0.68, 7.33) | |
| 9:27172719 | G>E | A:245 | (-24.84, -9.46, -3.33) | |
| 9:27172730 | R>G | A:249 | (-24.00, 0.71, 7.78) | |
| 9:27172734 | COSM3930007 COSM3930006 |
T>M | A:250 | (-23.52, 1.17, 2.79) |
| 9:27173235 | rs138708761 | T>M | A:259 | (-23.63, -15.04, -3.10) |
| 9:27173246 | T>A | A:263 | (-24.32, -12.53, 5.57) | |
| 9:27173265 | S>I | A:269 | (-28.95, -23.55, -7.37) | |
| 9:27173268 | rs372307879 | G>E | A:270 | (-28.01, -22.76, -10.74) |
| 9:27173270 | Q>E | A:271 | (-26.31, -24.59, -13.49) | |
| 9:27173289 | Y>C | A:277 | (-33.68, -18.51, -8.92) | |
| 9:27173294 | rs572299128 | F>L | A:279 | (-34.17, -13.12, -5.25) |
| 9:27173298 | C>Y | A:280 | (-38.35, -11.03, -2.37) | |
| 9:27173315 | G>R | A:286 | (-39.21, -5.53, -2.47) | |
| 9:27173341 | rs146169480 | K>N | A:294 | (-32.73, -6.84, -18.33) |
| 9:27173354 | N>D | A:299 | (-34.50, -13.82, -18.91) | |
| 9:27180246 | P>A | A:304 | (-22.94, -3.63, -21.76) | |
| 9:27180247 | rs533028014 | P>L | A:304 | (-22.94, -3.63, -21.76) |
| 9:27180258 | G>R | A:308 | (-27.08, -4.56, -10.88) | |
| 9:27180278 | R>S | A:314 | (-24.99, 3.89, -16.70) | |
| 9:27180289 | rs559473908 | N>S | A:318 | (-12.86, 7.17, -12.95) |
| 9:27180292 | N>S | A:319 | (-9.31, 5.15, -14.30) | |
| 9:27180300 | M>V | A:322 | (-13.70, -4.78, -16.57) | |
| 9:27180309 | R>C | A:325 | (-23.35, -9.70, -15.72) | |
| 9:27180334 | P>R | A:333 | (-4.13, -3.34, -8.03) | |
| 9:27180343 | Q>P | A:336 | (-10.15, 0.75, -2.81) | |
| 9:27183466 | rs200235356 | R>M | A:347 | (-12.82, -1.15, 2.52) |
| 9:27183470 | M>I | A:348 | (-10.19, -5.95, 6.25) | |
| 9:27183479 | K>N | A:351 | (-12.53, -11.31, 11.26) | |
| 9:27183481 | I>T | A:352 | (-16.30, -12.52, 15.19) | |
| 9:27183498 | H>Y | A:358 | (-19.03, -24.80, 23.72) | |
| 9:27183501 | I>L | A:359 | (-20.53, -20.44, 27.37) | |
| 9:27183502 | rs372811397 | I>T | A:359 | (-20.53, -20.44, 27.37) |
| 9:27183514 | rs541940165 | S>N | A:363 | (-27.47, -17.25, 37.53) |
| 9:27183529 | P>L | A:368 | (-21.27, -9.93, 27.62) | |
| 9:27183540 | rs527402232 | A>T | A:372 | (-13.76, -7.62, 15.97) |
| 9:27183541 | A>V | A:372 | (-13.76, -7.62, 15.97) | |
| 9:27183561 | rs368494167 | T>A | A:379 | (-17.75, 1.40, 15.62) |
| 9:27183598 | rs34032300 | T>I | A:391 | (-33.32, -8.89, 21.41) |
| 9:27183603 | L>V | A:393 | (-28.26, -6.47, 23.30) | |
| 9:27185490 | D>V | A:397 | (-18.22, 0.37, 27.28) | |
| 9:27185499 | rs573051752 | H>R | A:400 | (-10.19, 0.09, 20.26) |
| 9:27185502 | T>M | A:401 | (-7.04, -2.27, 20.26) | |
| 9:27185528 | T>A | A:410 | (-25.17, -5.81, 30.69) | |
| 9:27185540 | rs369394656 | I>L | A:414 | (-28.45, -14.59, 32.93) |
| 9:27185574 | S>N | A:425 | (-23.56, -8.45, 15.10) | |
| 9:27185588 | A>S | A:430 | (-17.15, -3.66, 4.25) | |
| 9:27185607 | P>L | A:436 | (-22.14, -18.55, 16.96) | |
| 9:27185610 | F>S | A:437 | (-22.18, -17.41, 21.79) | |
| 9:27185613 | rs189543659 | N>S | A:438 | (-24.60, -23.03, 22.69) |
| 9:27185616 | I>T | A:439 | (-25.29, -19.70, 26.51) | |
| 9:27185624 | K>E | A:442 | (-26.29, -24.42, 34.87) | |
| 9:27185627 | V>I | A:443 | (-28.66, -23.01, 38.83) | |
| 9:27190538 | P>S | A:447 | (-28.10, -26.33, 50.72) | |
| 9:27190545 | rs149684174 | N>S | A:449 | (-31.25, -30.72, 54.39) |
| 9:27190553 | rs45607336 | N>D | A:452 | (-27.44, -32.54, 61.21) |
| 9:27190556 | rs373235916 COSM1107975 COSM1107974 |
V>M | A:453 | (-25.66, -31.38, 65.91) |
| 9:27190586 | rs200857533 | I>V | A:463 | (-21.46, -30.01, 62.43) |
| 9:27190589 | N>H | A:464 | (-23.71, -33.51, 59.24) | |
| 9:27190595 | S>G | A:466 | (-25.74, -31.34, 54.60) | |
| 9:27190599 | S>C | A:467 | (-24.47, -30.35, 51.63) | |
| 9:27190625 | rs578107670 | I>V | A:476 | (-19.85, -28.71, 44.60) |
| 9:27190631 | S>T | A:478 | (-16.32, -24.60, 48.26) | |
| 9:27190635 | rs141586254 | K>R | A:479 | (-18.39, -27.26, 51.22) |
| 9:27190655 | rs1334811 | V>I | A:486 | (-28.45, -13.41, 68.75) |
| 9:27190664 | Y>H | A:489 | (-23.62, -13.14, 60.86) | |
| 9:27190668 | E>A | A:490 | (-18.76, -13.76, 62.80) | |
| 9:27190677 | Q>R | A:493 | (-13.99, -22.36, 59.10) | |
| 9:27190678 | Q>H | A:493 | (-13.99, -22.36, 59.10) | |
| 9:27192501 | V>I | A:502 | (-16.40, -25.19, 66.35) | |
| 9:27192504 | rs200574110 | T>A | A:503 | (-13.33, -25.47, 69.35) |
| 9:27192522 | P>A | A:509 | (-24.10, -19.48, 73.65) | |
| 9:27192526 | R>Q | A:510 | (-29.67, -18.81, 70.32) | |
| 9:27192529 | T>K | A:511 | (-25.40, -20.91, 68.29) | |
| 9:27192535 | Y>C | A:513 | (-24.20, -23.52, 63.59) | |
| 9:27192544 | rs150236410 | C>Y | A:516 | (-22.62, -22.21, 51.77) |
| 9:27192555 | V>L | A:520 | (-18.00, -22.82, 38.13) | |
| 9:27192559 | R>H | A:521 | (-13.98, -18.53, 37.69) | |
| 9:27192567 | E>K | A:524 | (-19.12, -19.09, 42.81) | |
| 9:27192571 | G>A | A:525 | (-22.31, -18.77, 45.75) | |
| 9:27192573 | G>R | A:526 | (-25.12, -19.06, 46.91) | |
| 9:27192586 | P>L | A:530 | (-30.32, -24.53, 56.12) | |
| 9:27192600 | rs539332352 COSM1107986 COSM1107985 |
R>C | A:535 | (-26.78, -23.46, 76.21) |
| 9:27192601 | COSM247782 | R>H | A:535 | (-26.78, -23.46, 76.21) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 9:27157868 | COSM3656708 | S>F | A:31 | (-39.62, -19.82, -9.37) |
| 9:27157925 | COSM2771434 | R>H | A:50 | (-29.97, -24.81, 18.51) |
| 9:27158079 | COSM1107960 | F>L | A:101 | (-47.82, -14.41, 3.49) |
| 9:27158126 | COSM1461857 | K>R | A:117 | (-47.46, -16.09, -9.05) |
| 9:27158127 | COSM656 | K>N | A:117 | (-47.46, -16.09, -9.05) |
| 9:27158132 | COSM1624887 | R>H | A:119 | (-53.71, -16.16, -15.87) |
| 9:27169478 | COSM1686083 | S>F | A:160 | (-60.76, -1.37, -5.35) |
| 9:27169504 | COSM1700998 | E>K | A:169 | (-57.59, 5.74, -27.27) |
| 9:27169513 | COSM1701000 | D>N | A:172 | (-48.86, 0.17, -26.56) |
| 9:27169586 | COSM3656716 | G>E | A:196 | (-63.10, -10.53, -16.34) |
| 9:27169606 | COSM1461859 | F>L | A:203 | (-51.21, -9.03, -10.47) |
| 9:27169615 | COSM1674424 | L>M | A:206 | (-46.54, 0.80, -4.88) |
| 9:27169625 | COSM4778587 | R>Q | A:209 | (-39.88, 5.38, 2.36) |
| 9:27192519 | COSM1701003 | E>K | A:508 | (-24.08, -20.70, 78.82) |