General Structure Information
| PDB ID | 2z7x |
| HGNC Gene Label(s) | TLR1 |
| Structure Name | crystal structure of the tlr1-tlr2 heterodimer induced by binding of a tri-acylated lipopeptide |
| Resolution | 2.1Å |
| Reference | AUTH M.S.JIN,S.E.KIM,J.Y.HEO,M.E.LEE,H.M.KIM,S.G.PAIK,H.LEE,AUTH 2 J.O.LEETITL CRYSTAL STRUCTURE OF THE TLR1-TLR2 HETERODIMER INDUCED BYTITL 2 BINDING OF A TRI-ACYLATED LIPOPEPTIDEREF CELL(CAMBRIDGE,MASS.) V. 130 1071 2007REFN ISSN 0092-8674PMID 17889651DOI 10.1016/J.CELL.2007.09.008 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 451 |
| Number Of SNVs | 121 |
| Number Of Permutations | 58516 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.043 |
| p-value | 0.224 |
COSMIC
| Number Of Residues | 451 |
| Number Of SNVs | 3 |
| Number Of Permutations | 437 |
| Optimal Distance Threshold | 34.0 |
| K Statistic | 0.667 |
| p-value | 0.91 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC

Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:38800368 | V>F | B:29 | (-52.48, 29.73, 19.14) | |
| 4:38800362 | rs140255888 | R>G | B:31 | (-54.87, 26.54, 15.10) |
| 4:38800356 | K>E | B:33 | (-49.46, 19.18, 12.70) | |
| 4:38800350 | G>S | B:35 | (-54.58, 21.64, 7.10) | |
| 4:38800338 | rs143455657 | V>I | B:39 | (-54.27, 32.39, 8.27) |
| 4:38800334 | P>L | B:40 | (-56.01, 30.97, 11.25) | |
| 4:38800328 | D>G | B:42 | (-61.67, 34.64, 14.11) | |
| 4:38800323 | rs76600635 | S>P | B:44 | (-57.15, 35.90, 20.79) |
| 4:38800311 | T>A | B:48 | (-48.24, 36.03, 22.29) | |
| 4:38800308 | rs181364215 | I>V | B:49 | (-47.07, 32.48, 20.72) |
| 4:38800299 | rs576464302 | I>V | B:52 | (-49.48, 28.36, 11.54) |
| 4:38800286 | Y>C | B:56 | (-51.54, 22.07, 3.29) | |
| 4:38800282 | rs145135062 | I>M | B:57 | (-50.59, 28.51, 4.55) |
| 4:38800268 | rs532778382 | T>I | B:62 | (-52.27, 42.57, 6.76) |
| 4:38800261 | D>E | B:64 | (-54.46, 37.22, 8.21) | |
| 4:38800259 | rs149960231 | I>S | B:65 | (-51.72, 39.37, 11.46) |
| 4:38800238 | R>T | B:72 | (-43.34, 37.46, 21.55) | |
| 4:38800226 | I>T | B:76 | (-45.59, 30.44, 9.05) | |
| 4:38800221 | H>Y | B:78 | (-42.47, 23.04, 7.46) | |
| 4:38800214 | rs5743611 | R>T | B:80 | (-47.56, 25.17, 0.16) |
| 4:38800197 | I>V | B:86 | (-42.11, 42.76, 5.19) | |
| 4:38800190 | V>G | B:88 | (-48.16, 42.16, 6.32) | |
| 4:38800184 | K>R | B:90 | (-47.54, 47.88, 8.99) | |
| 4:38800158 | D>N | B:99 | (-40.11, 30.51, 11.17) | |
| 4:38800152 | rs200212492 | S>P | B:101 | (-38.75, 27.91, 7.39) |
| 4:38800149 | H>Y | B:102 | (-38.60, 24.36, 5.56) | |
| 4:38800145 | N>S | B:103 | (-42.04, 27.91, 2.84) | |
| 4:38800131 | rs200474947 | I>F | B:108 | (-38.73, 39.60, 0.13) |
| 4:38800128 | S>P | B:109 | (-41.34, 42.79, -0.50) | |
| 4:38800103 | K>R | B:117 | (-34.84, 39.47, 18.72) | |
| 4:38800099 | H>Q | B:118 | (-35.58, 34.31, 14.94) | |
| 4:38800092 | L>M | B:121 | (-35.79, 33.50, 5.25) | |
| 4:38800088 | rs374676728 | S>L | B:122 | (-34.37, 28.79, 5.83) |
| 4:38800089 | rs146114753 | S>A | B:122 | (-34.37, 28.79, 5.83) |
| 4:38800083 | rs190177710 | N>D | B:124 | (-37.00, 28.97, 1.06) |
| 4:38800076 | F>S | B:126 | (-35.19, 33.13, -1.65) | |
| 4:38800058 | C>Y | B:132 | (-33.47, 43.75, 3.04) | |
| 4:38800037 | rs368672305 | S>Y | B:139 | (-30.39, 46.25, 16.50) |
| 4:38800022 | rs117033348 | L>P | B:144 | (-30.31, 35.59, 9.71) |
| 4:38800020 | rs201998340 | G>R | B:145 | (-32.07, 32.91, 7.92) |
| 4:38800004 | H>P | B:150 | (-25.96, 33.72, -6.83) | |
| 4:38799971 | H>L | B:161 | (-23.99, 46.89, 10.52) | |
| 4:38799949 | L>F | B:168 | (-28.82, 29.04, 8.69) | |
| 4:38799945 | rs144817025 | V>L | B:170 | (-29.54, 26.96, 2.81) |
| 4:38799936 | E>K | B:173 | (-29.91, 21.50, -4.52) | |
| 4:38799926 | G>E | B:176 | (-22.04, 26.70, -8.34) | |
| 4:38799927 | G>R | B:176 | (-22.04, 26.70, -8.34) | |
| 4:38799915 | rs185331480 | D>H | B:180 | (-17.43, 34.51, -4.66) |
| 4:38799905 | COSM1055145 | G>D | B:183 | (-19.09, 35.41, 0.01) |
| 4:38799887 | T>I | B:189 | (-21.42, 35.70, 12.77) | |
| 4:38799888 | T>A | B:189 | (-21.42, 35.70, 12.77) | |
| 4:38799860 | T>I | B:198 | (-28.33, 17.28, -1.48) | |
| 4:38799849 | rs373908427 | F>L | B:202 | (-17.82, 19.55, -1.86) |
| 4:38799822 | K>E | B:211 | (-12.84, 38.17, 10.88) | |
| 4:38799816 | V>I | B:213 | (-16.69, 32.21, 13.07) | |
| 4:38799797 | S>F | B:219 | (-23.72, 19.71, 6.46) | |
| 4:38799798 | S>T | B:219 | (-23.72, 19.71, 6.46) | |
| 4:38799795 | N>D | B:220 | (-24.93, 18.24, 3.14) | |
| 4:38799792 | rs202092369 | I>F | B:221 | (-19.98, 16.62, 3.01) |
| 4:38799779 | L>P | B:225 | (-14.73, 10.03, -6.41) | |
| 4:38799749 | S>N | B:235 | (-9.32, 22.76, 0.23) | |
| 4:38799740 | A>V | B:238 | (-7.35, 24.10, 5.02) | |
| 4:38799735 | L>F | B:240 | (-10.43, 26.43, 8.83) | |
| 4:38799710 | rs4833095 | N>S | B:248 | (-16.55, 24.95, 18.06) |
| 4:38799681 | W>R | B:258 | (-13.29, 3.95, 6.49) | |
| 4:38799659 | L>R | B:265 | (-10.05, 13.20, 11.49) | |
| 4:38799638 | rs200269582 | T>S | B:272 | (-7.65, 26.18, 16.49) |
| 4:38799632 | W>L | B:274 | (-10.48, 24.56, 22.58) | |
| 4:38799621 | I>V | B:278 | (-18.52, 13.95, 13.20) | |
| 4:38799615 | N>D | B:280 | (-25.17, 11.39, 10.20) | |
| 4:38799612 | rs201490388 | V>M | B:281 | (-21.01, 8.99, 8.58) |
| 4:38799599 | G>D | B:285 | (-13.90, 1.16, 1.20) | |
| 4:38799588 | rs543175496 | F>L | B:289 | (-4.17, 7.71, 6.12) |
| 4:38799584 | R>I | B:290 | (-2.39, 2.14, 9.36) | |
| 4:38799560 | rs150138583 | S>F | B:298 | (-6.16, 22.06, 20.43) |
| 4:38799547 | L>F | B:302 | (-13.93, 13.70, 19.13) | |
| 4:38799540 | H>Y | B:305 | (-22.81, 10.70, 17.38) | |
| 4:38799531 | V>L | B:308 | (-22.91, 3.44, 7.92) | |
| 4:38799525 | D>Y | B:310 | (-19.64, -1.36, 3.12) | |
| 4:38799522 | V>M | B:311 | (-18.30, -4.74, 3.92) | |
| 4:38799516 | rs150985008 | G>S | B:313 | (-10.90, -6.31, 4.13) |
| 4:38799509 | rs5743613 | P>L | B:315 | (-7.54, -5.04, 9.02) |
| 4:38799503 | rs558468805 | S>N | B:317 | (-7.08, -2.71, 13.57) |
| 4:38799500 | Y>F | B:318 | (-5.64, -1.13, 9.55) | |
| 4:38799495 | Y>N | B:320 | (-11.05, -0.48, 16.07) | |
| 4:38799488 | I>T | B:322 | (-6.64, 5.79, 14.33) | |
| 4:38799475 | M>I | B:326 | (-7.14, 9.97, 19.74) | |
| 4:38799470 | I>N | B:328 | (-8.31, 13.56, 23.22) | |
| 4:38799471 | I>V | B:328 | (-8.31, 13.56, 23.22) | |
| 4:38799455 | V>G | B:333 | (-18.23, 6.61, 19.64) | |
| 4:38799449 | rs141091142 | G>A | B:335 | (-23.92, 4.66, 16.35) |
| 4:38799443 | rs375985007 COSM1539986 |
R>H | B:337 | (-23.29, -1.30, 13.86) |
| 4:38799441 | rs535191236 | M>V | B:338 | (-17.41, -0.20, 17.56) |
| 4:38799438 | V>L | B:339 | (-17.00, -4.92, 17.49) | |
| 4:38799435 | H>Y | B:340 | (-12.65, -4.24, 20.15) | |
| 4:38799419 | rs566104632 | S>F | B:345 | (0.14, 2.35, 22.67) |
| 4:38799413 | rs372400514 | I>T | B:347 | (0.21, 6.51, 29.51) |
| 4:38799409 | rs200829133 | S>R | B:348 | (-4.03, 7.90, 27.87) |
| 4:38799407 | P>L | B:349 | (-5.03, 11.33, 27.72) | |
| 4:38799399 | rs76796448 | H>N | B:352 | (-14.34, 12.08, 30.52) |
| 4:38799372 | rs189308820 | T>S | B:361 | (-17.48, -7.14, 23.64) |
| 4:38799369 | D>Y | B:362 | (-16.98, -8.70, 27.67) | |
| 4:38799365 | rs184548723 | T>M | B:363 | (-12.79, -8.13, 25.22) |
| 4:38799342 | rs201398822 | L>F | B:371 | (-6.98, 3.66, 30.41) |
| 4:38799323 | L>H | B:377 | (-16.37, 4.18, 30.86) | |
| 4:38799314 | Q>R | B:380 | (-25.65, 2.73, 27.61) | |
| 4:38799294 | L>F | B:387 | (-19.50, -8.53, 35.79) | |
| 4:38799291 | rs200988873 | S>A | B:388 | (-15.86, -10.98, 35.89) |
| 4:38799283 | rs192055114 | I>M | B:390 | (-16.64, -5.88, 32.91) |
| 4:38799274 | M>I | B:393 | (-11.88, -3.28, 32.00) | |
| 4:38799263 | M>T | B:397 | (-9.29, 1.69, 34.85) | |
| 4:38799243 | D>N | B:404 | (-22.90, 2.88, 32.25) | |
| 4:38799227 | S>Y | B:409 | (-26.73, -9.23, 28.80) | |
| 4:38799225 | rs139333505 | V>I | B:410 | (-24.65, -8.28, 32.42) |
| 4:38799203 | rs184834731 | G>V | B:417 | (-15.35, -14.87, 42.31) |
| 4:38799188 | T>I | B:422 | (-10.96, -0.13, 40.66) | |
| 4:38799174 | S>R | B:427 | (-20.80, 5.34, 40.10) | |
| 4:38799165 | rs367870740 | M>V | B:430 | (-25.13, -2.66, 36.92) |
| 4:38799138 | I>V | B:439 | (-24.32, -8.35, 42.27) | |
| 4:38799126 | rs199899599 | L>I | B:443 | (-19.95, -4.64, 44.60) |
| 4:38799091 | rs577992581 | S>R | B:454 | (-34.18, -3.72, 35.43) |
| 4:38799090 | rs371397631 | N>D | B:455 | (-31.85, -6.69, 36.88) |
| 4:38799087 | K>E | B:456 | (-33.78, -11.12, 36.84) | |
| 4:38799077 | rs150883098 | S>N | B:459 | (-32.51, -11.16, 47.23) |
| 4:38799078 | rs201596172 | S>G | B:459 | (-32.51, -11.16, 47.23) |
| 4:38799047 | rs141556246 | A>V | B:469 | (-20.63, 4.60, 51.18) |
| 4:38799032 | rs374992283 | N>S | B:474 | (-32.21, 1.59, 42.04) |
| 4:38799033 | N>D | B:474 | (-32.21, 1.59, 42.04) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:38800214 | COSM3760609 | R>T | B:80 | (-47.56, 25.17, 0.16) |
| 4:38799786 | COSM1633672 | C>R | B:223 | (-16.54, 12.72, -1.47) |
| 4:38799482 | COSM1055140 | S>L | B:324 | (-6.80, 4.26, 20.65) |