General Structure Information
| PDB ID | 2z7x |
| HGNC Gene Label(s) | TLR2 |
| 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 | 480 |
| Number Of SNVs | 118 |
| Number Of Permutations | 23653 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | 0.288 |
| p-value | 0.197 |
COSMIC
| Number Of Residues | 480 |
| Number Of SNVs | 7 |
| Number Of Permutations | 5818 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.095 |
| p-value | 0.852 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 118 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.07 |
| p-value | 0.585 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:154624153 | R>C | A:32 | (-46.01, -45.49, 49.96) | |
| 4:154624159 | G>S | A:34 | (-38.04, -48.03, 50.04) | |
| 4:154624160 | G>D | A:34 | (-38.04, -48.03, 50.04) | |
| 4:154624172 | G>D | A:38 | (-30.53, -38.76, 53.59) | |
| 4:154624175 | S>T | A:39 | (-31.81, -36.22, 55.79) | |
| 4:154624178 | rs141039581 | S>L | A:40 | (-29.38, -35.39, 58.60) |
| 4:154624193 | S>F | A:45 | (-22.05, -44.75, 59.40) | |
| 4:154624211 | T>I | A:51 | (-34.82, -52.13, 56.21) | |
| 4:154624227 | rs200432094 | S>R | A:56 | (-33.33, -47.01, 47.24) |
| 4:154624242 | N>K | A:61 | (-22.89, -34.92, 50.56) | |
| 4:154624244 | N>S | A:62 | (-23.04, -37.96, 54.16) | |
| 4:154624252 | T>A | A:65 | (-14.51, -43.29, 56.66) | |
| 4:154624260 | rs138655195 | I>M | A:67 | (-17.99, -49.22, 53.87) |
| 4:154624265 | N>S | A:69 | (-19.97, -56.98, 55.81) | |
| 4:154624288 | rs149337819 | N>Y | A:77 | (-33.74, -56.94, 47.97) |
| 4:154624298 | A>V | A:80 | (-29.79, -48.37, 45.05) | |
| 4:154624301 | rs56303479 | L>P | A:81 | (-25.45, -47.76, 46.52) |
| 4:154624322 | rs370767436 | I>T | A:88 | (-15.12, -43.52, 51.61) |
| 4:154624324 | rs137853176 | N>D | A:89 | (-10.68, -43.65, 53.73) |
| 4:154624330 | rs116232047 | I>V | A:91 | (-14.56, -50.30, 51.42) |
| 4:154624333 | E>K | A:92 | (-14.53, -54.11, 55.38) | |
| 4:154624339 | D>Y | A:94 | (-16.64, -59.45, 51.31) | |
| 4:154624376 | D>G | A:106 | (-22.33, -43.74, 43.46) | |
| 4:154624396 | S>P | A:113 | (-6.85, -44.71, 47.02) | |
| 4:154624423 | P>T | A:122 | (-20.26, -59.45, 44.29) | |
| 4:154624424 | P>L | A:122 | (-20.26, -59.45, 44.29) | |
| 4:154624426 | L>I | A:123 | (-21.66, -56.70, 41.53) | |
| 4:154624447 | rs201852542 | N>D | A:130 | (-19.20, -43.21, 39.34) |
| 4:154624460 | N>S | A:134 | (-11.79, -41.28, 44.11) | |
| 4:154624463 | P>L | A:135 | (-7.63, -40.45, 45.41) | |
| 4:154624472 | rs200686000 | T>I | A:138 | (-4.24, -46.91, 39.09) |
| 4:154624483 | T>A | A:142 | (-5.89, -56.97, 39.22) | |
| 4:154624484 | T>I | A:142 | (-5.89, -56.97, 39.22) | |
| 4:154624486 | S>P | A:143 | (-8.35, -57.47, 35.82) | |
| 4:154624496 | COSM323844 | S>C | A:146 | (-15.05, -58.63, 35.94) |
| 4:154624499 | H>L | A:147 | (-17.17, -61.27, 38.03) | |
| 4:154624505 | T>I | A:149 | (-20.88, -58.92, 32.73) | |
| 4:154624508 | K>I | A:150 | (-25.45, -56.78, 33.49) | |
| 4:154624531 | COSM1052238 | N>Y | A:158 | (-8.96, -38.41, 38.95) |
| 4:154624532 | N>T | A:158 | (-8.96, -38.41, 38.95) | |
| 4:154624537 | D>N | A:160 | (-6.52, -34.77, 40.71) | |
| 4:154624570 | A>T | A:171 | (-11.65, -56.98, 30.60) | |
| 4:154624588 | E>K | A:177 | (-24.56, -47.14, 25.71) | |
| 4:154624600 | I>F | A:181 | (-11.93, -42.21, 30.79) | |
| 4:154624601 | I>T | A:181 | (-11.93, -42.21, 30.79) | |
| 4:154624618 | Q>K | A:187 | (2.07, -39.04, 32.07) | |
| 4:154624627 | E>K | A:190 | (-0.80, -50.67, 28.30) | |
| 4:154624628 | E>G | A:190 | (-0.80, -50.67, 28.30) | |
| 4:154624648 | rs144030660 | I>F | A:197 | (-14.36, -52.43, 24.75) |
| 4:154624685 | Q>L | A:209 | (-0.79, -33.40, 27.70) | |
| 4:154624688 | H>R | A:210 | (-1.08, -33.50, 22.10) | |
| 4:154624709 | rs139227237 | F>S | A:217 | (-8.39, -42.52, 17.08) |
| 4:154624711 | rs372672698 | V>I | A:218 | (-5.81, -46.43, 17.06) |
| 4:154624720 | rs561899797 | T>A | A:221 | (-11.86, -45.85, 15.53) |
| 4:154624748 | rs529455644 COSM1229393 |
R>Q | A:230 | (-14.64, -33.36, 28.32) |
| 4:154624751 | rs140388212 | D>G | A:231 | (-10.23, -30.34, 29.13) |
| 4:154624774 | F>I | A:239 | (-2.27, -36.72, 11.51) | |
| 4:154624804 | rs373664051 | S>T | A:249 | (-14.71, -45.44, 11.66) |
| 4:154624823 | T>I | A:255 | (-17.40, -33.75, 20.65) | |
| 4:154624846 | D>N | A:263 | (-5.17, -21.38, 12.59) | |
| 4:154624857 | rs150388453 | L>F | A:266 | (-8.07, -26.81, 12.80) |
| 4:154624858 | F>L | A:267 | (-4.78, -28.90, 8.27) | |
| 4:154624862 | rs539578785 | Q>R | A:268 | (-3.02, -31.24, 11.57) |
| 4:154624868 | M>T | A:270 | (-9.26, -30.99, 9.20) | |
| 4:154624877 | L>S | A:273 | (-11.78, -35.51, 11.23) | |
| 4:154624879 | rs200101085 | N>H | A:274 | (-10.38, -36.94, 6.59) |
| 4:154624886 | I>S | A:276 | (-13.74, -40.47, 10.64) | |
| 4:154624897 | L>V | A:280 | (-22.36, -37.62, 9.84) | |
| 4:154624921 | T>A | A:288 | (-9.95, -21.55, 22.42) | |
| 4:154624924 | L>V | A:289 | (-9.30, -20.32, 17.55) | |
| 4:154624940 | N>S | A:294 | (-4.74, -18.38, 7.94) | |
| 4:154624952 | rs377645847 COSM1738958 |
S>F | A:298 | (-4.45, -28.37, 1.56) |
| 4:154624964 | rs143866035 | R>K | A:302 | (-3.88, -37.56, 2.60) |
| 4:154624966 | V>F | A:303 | (-6.68, -32.54, 0.16) | |
| 4:154624991 | T>M | A:311 | (-23.89, -31.44, 11.24) | |
| 4:154624997 | T>K | A:313 | (-22.20, -27.63, 16.45) | |
| 4:154625003 | rs377022229 COSM1052245 |
R>Q | A:315 | (-22.62, -24.88, 21.22) |
| 4:154625012 | H>R | A:318 | (-12.23, -17.08, 23.13) | |
| 4:154625021 | R>K | A:321 | (-6.64, -10.64, 18.40) | |
| 4:154625033 | F>S | A:325 | (-11.65, -14.66, 11.94) | |
| 4:154625040 | COSM3355917 | D>E | A:327 | (-12.78, -14.38, 4.29) |
| 4:154625045 | S>N | A:329 | (-11.51, -18.35, 1.59) | |
| 4:154625057 | rs370305772 | S>L | A:333 | (-13.50, -26.96, -0.15) |
| 4:154625065 | E>K | A:336 | (-20.82, -28.19, -2.06) | |
| 4:154625129 | rs373356008 | Q>P | A:357 | (-22.78, -17.32, -2.68) |
| 4:154625144 | L>S | A:362 | (-27.17, -24.62, 4.70) | |
| 4:154625157 | D>E | A:366 | (-28.23, -21.07, 15.01) | |
| 4:154625177 | V>D | A:373 | (-26.58, -5.79, 12.27) | |
| 4:154625204 | C>F | A:382 | (-26.56, -12.34, -0.78) | |
| 4:154625222 | rs367889769 COSM1642426 |
S>C | A:388 | (-31.19, -24.54, 0.44) |
| 4:154625225 | L>P | A:389 | (-31.74, -21.75, 4.34) | |
| 4:154625242 | R>W | A:395 | (-32.06, -16.51, 20.11) | |
| 4:154625273 | T>I | A:405 | (-35.10, -8.00, 9.03) | |
| 4:154625275 | G>R | A:406 | (-37.34, -8.92, 5.92) | |
| 4:154625276 | G>E | A:406 | (-37.34, -8.92, 5.92) | |
| 4:154625281 | T>P | A:408 | (-32.68, -8.86, 4.16) | |
| 4:154625285 | L>S | A:409 | (-34.53, -12.63, 4.71) | |
| 4:154625291 | rs5743699 | T>I | A:411 | (-32.53, -13.46, -1.00) |
| 4:154625299 | N>Y | A:414 | (-37.07, -22.50, 0.47) | |
| 4:154625306 | T>I | A:416 | (-40.07, -21.51, 5.99) | |
| 4:154625311 | I>V | A:418 | (-37.75, -16.55, 10.72) | |
| 4:154625315 | D>G | A:419 | (-35.95, -17.18, 15.78) | |
| 4:154625337 | rs149391877 | H>Q | A:426 | (-39.00, -1.20, 20.18) |
| 4:154625339 | rs187171892 | S>F | A:427 | (-42.26, -1.29, 16.06) |
| 4:154625344 | COSM480971 | P>S | A:429 | (-44.61, -1.40, 9.83) |
| 4:154625359 | W>R | A:434 | (-41.38, -11.02, 6.36) | |
| 4:154625363 | rs199541821 | P>R | A:435 | (-40.15, -14.62, 2.95) |
| 4:154625378 | Y>C | A:440 | (-41.36, -20.38, 13.33) | |
| 4:154625388 | L>F | A:443 | (-41.76, -11.87, 17.08) | |
| 4:154625396 | T>I | A:446 | (-39.60, -8.21, 20.48) | |
| 4:154625417 | rs200751086 | G>D | A:453 | (-49.64, -6.61, 8.65) |
| 4:154625419 | COSM4122848 | C>R | A:454 | (-46.07, -7.03, 9.08) |
| 4:154625432 | T>I | A:458 | (-48.31, -17.56, 4.98) | |
| 4:154625447 | rs199771700 | D>G | A:463 | (-44.11, -16.62, 19.52) |
| 4:154625468 | N>S | A:470 | (-53.47, -4.37, 24.86) | |
| 4:154625475 | F>L | A:472 | (-53.70, -10.74, 17.93) | |
| 4:154625489 | P>L | A:477 | (-55.88, -17.72, 7.31) | |
| 4:154625494 | L>V | A:479 | (-52.40, -19.63, 12.54) | |
| 4:154625507 | Y>C | A:483 | (-47.43, -20.11, 20.93) | |
| 4:154625531 | rs139078841 | T>I | A:491 | (-59.35, -8.63, 24.64) |
| 4:154625537 | rs551604106 | P>L | A:493 | (-57.54, -13.52, 20.62) |
| 4:154625546 | S>F | A:496 | (-62.93, -14.64, 13.30) | |
| 4:154625554 | rs143997997 | P>S | A:499 | (-60.01, -20.40, 11.36) |
| 4:154625555 | rs368724610 | P>L | A:499 | (-60.01, -20.40, 11.36) |
| 4:154625558 | rs371484518 | M>T | A:500 | (-56.97, -23.49, 10.45) |
| 4:154625563 | L>I | A:502 | (-54.80, -26.33, 16.24) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:154624204 | COSM1720701 | G>R | A:49 | (-29.36, -53.08, 59.83) |
| 4:154624496 | COSM323844 | S>C | A:146 | (-15.05, -58.63, 35.94) |
| 4:154624727 | COSM95355 | S>F | A:223 | (-15.53, -49.17, 19.26) |
| 4:154624805 | COSM732343 | S>L | A:249 | (-14.71, -45.44, 11.66) |
| 4:154625003 | COSM1052245 | R>Q | A:315 | (-22.62, -24.88, 21.22) |
| 4:154625039 | COSM146015 | D>V | A:327 | (-12.78, -14.38, 4.29) |
| 4:154625094 | COSM1618496 | N>K | A:345 | (-22.13, -16.93, 22.26) |