General Structure Information
| PDB ID | 3be1 |
| HGNC Gene Label(s) | ERBB2 |
| Structure Name | dual specific bh1 fab in complex with the extracellular domain of her2/erbb-2 |
| Resolution | 2.9Å |
| Reference | AUTH J.BOSTROM,S.F.YU,D.KAN,B.A.APPLETON,C.V.LEE,K.BILLECI,W.MAN,AUTH 2 F.PEALE,S.ROSS,C.WIESMANN,G.FUHTITL VARIANTS OF THE ANTIBODY HERCEPTIN THAT INTERACT WITH HER2TITL 2 AND VEGF AT THE ANTIGEN BINDING SITEREF SCIENCE V. 323 1610 2009REFN ISSN 0036-8075PMID 19299620DOI 10.1126/SCIENCE.1165480 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 583 |
| Number Of SNVs | 148 |
| Number Of Permutations | 87805 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.02 |
| p-value | 0.713 |
COSMIC
| Number Of Residues | 583 |
| Number Of SNVs | 9 |
| Number Of Permutations | 8674 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | 0.611 |
| p-value | 0.291 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 148 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.108 |
| p-value | 0.233 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 17:37863248 | T>P | A:5 | (-8.99, -25.50, 51.78) | |
| 17:37863251 | rs564064363 | G>S | A:6 | (-9.26, -26.26, 48.55) |
| 17:37863257 | D>Y | A:8 | (-5.20, -26.99, 42.17) | |
| 17:37863262 | rs546886845 | M>I | A:9 | (-7.81, -31.09, 40.75) |
| 17:37863269 | rs149937802 | R>W | A:12 | (-5.00, -32.93, 37.35) |
| 17:37863278 | A>P | A:15 | (-5.39, -41.85, 41.55) | |
| 17:37863287 | E>K | A:18 | (-11.21, -46.23, 44.96) | |
| 17:37863306 | L>P | A:24 | (-14.65, -34.05, 48.19) | |
| 17:37863309 | rs144019910 | R>H | A:25 | (-17.10, -37.13, 52.98) |
| 17:37863339 | rs140441229 | Q>R | A:35 | (-10.08, -19.68, 51.52) |
| 17:37863357 | T>I | A:41 | (-14.36, -33.89, 39.36) | |
| 17:37863368 | T>A | A:45 | (-24.89, -41.69, 39.30) | |
| 17:37863369 | T>I | A:45 | (-24.89, -41.69, 39.30) | |
| 17:37863372 | N>S | A:46 | (-23.95, -43.43, 43.38) | |
| 17:37863375 | A>G | A:47 | (-22.98, -39.47, 44.53) | |
| 17:37864584 | rs61737968 | E>A | A:57 | (-18.41, -17.29, 50.45) |
| 17:37864598 | rs376524324 | V>M | A:62 | (-16.73, -23.19, 40.55) |
| 17:37864604 | I>V | A:64 | (-18.98, -28.70, 37.82) | |
| 17:37864607 | A>T | A:65 | (-16.38, -31.96, 35.66) | |
| 17:37864612 | H>Q | A:66 | (-15.37, -35.00, 33.11) | |
| 17:37864617 | Q>P | A:68 | (-21.45, -39.75, 35.61) | |
| 17:37864632 | P>L | A:73 | (-26.00, -29.68, 46.38) | |
| 17:37864646 | R>W | A:78 | (-25.04, -15.88, 49.79) | |
| 17:37864647 | R>Q | A:78 | (-25.04, -15.88, 49.79) | |
| 17:37864677 | D>G | A:88 | (-6.60, -17.59, 33.22) | |
| 17:37864692 | A>V | A:93 | (-16.92, -24.33, 34.98) | |
| 17:37864709 | D>N | A:99 | (-23.09, -40.56, 29.90) | |
| 17:37864713 | rs370959592 COSM705320 |
P>L | A:100 | (-19.53, -41.64, 27.56) |
| 17:37864748 | P>S | A:112 | (-29.88, -40.80, 31.83) | |
| 17:37864754 | G>S | A:114 | (-26.28, -35.91, 34.54) | |
| 17:37864760 | COSM3516807 | R>W | A:116 | (-32.01, -33.12, 35.10) |
| 17:37864761 | R>Q | A:116 | (-32.01, -33.12, 35.10) | |
| 17:37864765 | E>D | A:117 | (-31.73, -28.66, 37.56) | |
| 17:37864776 | rs185670819 | R>Q | A:121 | (-31.99, -21.66, 44.76) |
| 17:37864781 | rs527779103 | L>F | A:123 | (-25.00, -17.22, 42.28) |
| 17:37865586 | rs151122410 | G>A | A:130 | (-16.86, -16.11, 34.08) |
| 17:37865588 | COSM1684502 | V>L | A:131 | (-19.60, -18.41, 32.50) |
| 17:37865593 | L>F | A:132 | (-17.33, -22.37, 30.38) | |
| 17:37865600 | COSM978663 | R>W | A:135 | (-18.89, -30.34, 26.18) |
| 17:37865601 | R>Q | A:135 | (-18.89, -30.34, 26.18) | |
| 17:37865606 | P>T | A:137 | (-26.12, -33.70, 27.82) | |
| 17:37865622 | Q>R | A:142 | (-28.36, -23.35, 30.64) | |
| 17:37865624 | D>H | A:143 | (-30.97, -20.87, 28.20) | |
| 17:37865661 | N>S | A:155 | (-17.08, -8.72, 35.60) | |
| 17:37865694 | R>H | A:166 | (-30.63, -28.92, 25.82) | |
| 17:37865699 | R>W | A:168 | (-33.78, -32.88, 28.99) | |
| 17:37865700 | rs531563820 | R>Q | A:168 | (-33.78, -32.88, 28.99) |
| 17:37866071 | P>S | A:172 | (-41.52, -24.78, 31.93) | |
| 17:37866072 | P>L | A:172 | (-41.52, -24.78, 31.93) | |
| 17:37866081 | rs113619125 | P>L | A:175 | (-45.38, -20.34, 37.26) |
| 17:37866085 | M>I | A:176 | (-43.11, -17.87, 41.29) | |
| 17:37866093 | G>V | A:179 | (-39.01, -13.78, 33.68) | |
| 17:37866132 | S>I | A:192 | (-32.66, -13.28, 42.19) | |
| 17:37866342 | T>M | A:194 | (-29.36, -8.00, 42.84) | |
| 17:37866344 | COSM3387843 | R>C | A:195 | (-26.48, -4.91, 38.55) |
| 17:37866345 | COSM327267 | R>H | A:195 | (-26.48, -4.91, 38.55) |
| 17:37866359 | COSM4066010 | G>S | A:200 | (-30.26, 4.22, 40.50) |
| 17:37866371 | R>C | A:204 | (-25.85, -5.68, 43.82) | |
| 17:37866372 | R>H | A:204 | (-25.85, -5.68, 43.82) | |
| 17:37866383 | P>S | A:208 | (-37.69, -1.62, 43.48) | |
| 17:37866389 | P>T | A:210 | (-34.63, 4.01, 46.50) | |
| 17:37866416 | A>T | A:219 | (-21.59, -8.04, 47.47) | |
| 17:37866422 | rs533090552 | G>S | A:221 | (-26.89, -8.06, 48.94) |
| 17:37866423 | G>V | A:221 | (-26.89, -8.06, 48.94) | |
| 17:37866429 | rs376183465 | T>M | A:223 | (-31.51, -7.95, 54.72) |
| 17:37866443 | S>P | A:228 | (-25.33, -5.17, 59.07) | |
| 17:37866600 | L>P | A:234 | (-17.02, -5.94, 48.22) | |
| 17:37866609 | N>S | A:237 | (-16.56, -9.55, 58.01) | |
| 17:37866611 | H>Y | A:238 | (-14.82, -5.65, 61.89) | |
| 17:37866620 | I>F | A:241 | (-19.40, -4.68, 60.14) | |
| 17:37866641 | rs200382130 | A>S | A:248 | (-4.66, -1.30, 62.15) |
| 17:37866642 | A>V | A:248 | (-4.66, -1.30, 62.15) | |
| 17:37866651 | T>I | A:251 | (-2.20, 3.60, 66.04) | |
| 17:37866666 | T>K | A:256 | (4.95, 11.96, 68.33) | |
| 17:37866677 | M>L | A:260 | (0.32, 3.76, 69.54) | |
| 17:37866689 | rs149210045 | E>K | A:264 | (-10.12, -2.66, 68.37) |
| 17:37866696 | R>Q | A:266 | (-8.77, -7.14, 64.49) | |
| 17:37866701 | T>A | A:268 | (-6.04, -9.77, 56.75) | |
| 17:37866707 | G>S | A:270 | (-9.45, -12.95, 53.38) | |
| 17:37868184 | N>I | A:280 | (-0.49, -23.90, 59.16) | |
| 17:37868201 | COSM560482 | V>M | A:286 | (1.47, -5.95, 56.78) |
| 17:37868219 | V>I | A:292 | (4.25, -17.25, 51.87) | |
| 17:37868231 | H>Y | A:296 | (12.55, -8.72, 51.30) | |
| 17:37868267 | R>W | A:308 | (5.13, -13.31, 63.36) | |
| 17:37868268 | R>Q | A:308 | (5.13, -13.31, 63.36) | |
| 17:37868271 | rs564382616 | C>Y | A:309 | (6.69, -13.05, 58.62) |
| 17:37868298 | rs532077147 | R>Q | A:318 | (20.93, -21.03, 51.41) |
| 17:37868581 | Y>C | A:321 | (13.81, -21.72, 48.56) | |
| 17:37868583 | G>R | A:322 | (11.73, -26.39, 46.82) | |
| 17:37868593 | M>K | A:325 | (9.50, -21.95, 45.96) | |
| 17:37868605 | R>Q | A:329 | (8.78, -21.02, 40.30) | |
| 17:37868608 | E>G | A:330 | (8.60, -23.90, 36.63) | |
| 17:37868610 | V>L | A:331 | (10.94, -28.42, 38.90) | |
| 17:37868649 | G>R | A:344 | (21.96, -29.65, 54.67) | |
| 17:37868676 | A>T | A:353 | (8.57, -34.92, 44.21) | |
| 17:37868686 | P>L | A:356 | (8.90, -42.30, 37.94) | |
| 17:37868691 | rs148068883 | S>G | A:358 | (13.42, -39.36, 39.66) |
| 17:37868701 | G>E | A:361 | (15.45, -40.56, 33.30) | |
| 17:37871552 | N>H | A:366 | (20.29, -36.09, 29.77) | |
| 17:37871553 | N>S | A:366 | (20.29, -36.09, 29.77) | |
| 17:37871558 | A>T | A:368 | (20.33, -39.81, 35.21) | |
| 17:37871562 | P>L | A:369 | (20.19, -42.49, 37.34) | |
| 17:37871571 | P>L | A:372 | (19.64, -45.13, 45.95) | |
| 17:37871583 | Q>R | A:376 | (21.88, -40.83, 52.34) | |
| 17:37871585 | V>M | A:377 | (20.72, -35.61, 51.17) | |
| 17:37871707 | Y>D | A:389 | (3.75, -37.34, 44.91) | |
| 17:37871710 | I>V | A:390 | (6.46, -40.85, 47.15) | |
| 17:37871726 | D>A | A:395 | (12.47, -51.91, 44.46) | |
| 17:37871732 | L>R | A:397 | (15.13, -48.76, 49.68) | |
| 17:37871740 | L>I | A:400 | (10.37, -43.78, 53.69) | |
| 17:37871746 | rs142783371 | V>I | A:402 | (15.81, -41.03, 54.09) |
| 17:37871764 | V>I | A:408 | (6.88, -31.13, 60.16) | |
| 17:37871770 | rs367606199 | R>W | A:410 | (4.17, -26.95, 58.68) |
| 17:37871777 | rs147382623 | R>Q | A:412 | (2.52, -23.64, 54.89) |
| 17:37871785 | H>Y | A:415 | (-0.62, -33.26, 45.03) | |
| 17:37871997 | A>T | A:418 | (-5.33, -31.94, 48.99) | |
| 17:37872004 | S>L | A:420 | (0.22, -33.44, 52.72) | |
| 17:37872027 | I>V | A:428 | (7.53, -49.57, 50.67) | |
| 17:37872035 | rs4252633 | W>C | A:430 | (9.46, -50.97, 56.85) |
| 17:37872036 | L>V | A:431 | (6.36, -45.89, 56.37) | |
| 17:37872045 | rs200497646 | R>C | A:434 | (12.42, -42.92, 63.66) |
| 17:37872076 | A>V | A:444 | (-3.33, -38.73, 53.82) | |
| 17:37872088 | rs201097345 | H>R | A:448 | (-2.56, -49.17, 44.81) |
| 17:37872094 | T>I | A:450 | (1.75, -54.78, 47.53) | |
| 17:37872096 | H>D | A:451 | (4.96, -55.60, 49.23) | |
| 17:37872105 | F>V | A:454 | (3.97, -51.79, 60.08) | |
| 17:37872108 | V>M | A:455 | (-0.73, -48.26, 57.81) | |
| 17:37872115 | rs201021373 | T>M | A:457 | (0.72, -49.14, 63.30) |
| 17:37872121 | rs370565888 | P>L | A:459 | (-0.76, -42.75, 65.39) |
| 17:37872126 | rs571837012 | D>N | A:461 | (-5.55, -38.99, 64.97) |
| 17:37872138 | rs375382055 COSM1686255 |
R>W | A:465 | (-2.46, -30.90, 64.39) |
| 17:37872143 | N>K | A:466 | (-7.62, -29.90, 60.67) | |
| 17:37872145 | rs142456637 | P>L | A:467 | (-11.30, -31.50, 61.40) |
| 17:37872166 | T>I | A:474 | (-6.60, -48.43, 49.07) | |
| 17:37872168 | rs145762641 | A>T | A:475 | (-4.39, -51.27, 48.05) |
| 17:37872186 | E>K | A:481 | (-1.25, -60.97, 54.28) | |
| 17:37872586 | rs371623072 | A>T | A:494 | (3.50, -47.75, 73.41) |
| 17:37872590 | R>Q | A:495 | (-0.92, -47.30, 74.24) | |
| 17:37872605 | rs561322621 | G>D | A:500 | (7.62, -50.65, 62.18) |
| 17:37872607 | rs202202058 | P>S | A:501 | (9.73, -53.34, 62.03) |
| 17:37872625 | V>I | A:507 | (5.85, -43.60, 68.95) | |
| 17:37872629 | N>S | A:508 | (6.55, -43.56, 72.76) | |
| 17:37872634 | S>R | A:510 | (7.62, -48.65, 77.62) | |
| 17:37872643 | L>F | A:513 | (15.84, -45.01, 74.53) | |
| 17:37872647 | rs140980495 | R>Q | A:514 | (20.46, -48.79, 74.84) |
| 17:37872654 | Q>H | A:516 | (16.91, -44.36, 68.21) | |
| 17:37872674 | rs150203173 | R>Q | A:523 | (24.00, -51.99, 80.06) |
| 17:37872685 | rs532713027 | G>W | A:527 | (27.00, -55.27, 81.94) |
| 17:37872806 | rs201470725 | P>L | A:540 | (27.65, -43.99, 78.94) |
| 17:37872827 | P>L | A:547 | (32.63, -52.38, 87.12) | |
| 17:37872836 | G>V | A:550 | (25.85, -54.89, 93.74) | |
| 17:37872857 | rs146179272 | P>L | A:557 | (28.90, -38.89, 82.37) |
| 17:37873607 | K>M | A:569 | (41.69, -41.04, 92.03) | |
| 17:37873613 | P>L | A:571 | (41.83, -36.19, 92.56) | |
| 17:37873624 | V>M | A:575 | (43.05, -41.53, 85.36) | |
| 17:37873628 | rs145409713 | A>D | A:576 | (44.46, -44.06, 82.82) |
| 17:37873630 | rs369903296 | R>C | A:577 | (48.05, -43.33, 81.16) |
| 17:37873631 | R>H | A:577 | (48.05, -43.33, 81.16) | |
| 17:37873699 | A>T | A:600 | (46.95, -41.55, 93.98) | |
| 17:37873709 | P>L | A:603 | (53.25, -35.04, 93.11) | |
| 17:37873720 | N>D | A:607 | (60.71, -30.41, 87.29) | |
| 17:37873721 | N>T | A:607 | (60.71, -30.41, 87.29) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 17:37863270 | COSM4170791 | R>Q | A:12 | (-5.00, -32.93, 37.35) |
| 17:37864761 | COSM4547051 | R>Q | A:116 | (-32.01, -33.12, 35.10) |
| 17:37866344 | COSM3387843 | R>C | A:195 | (-26.48, -4.91, 38.55) |
| 17:37866417 | COSM1749994 | A>V | A:219 | (-21.59, -8.04, 47.47) |
| 17:37866626 | COSM4767523 | E>K | A:243 | (-15.21, -2.48, 57.13) |
| 17:37866662 | COSM1749995 | D>Y | A:255 | (1.49, 15.17, 68.82) |
| 17:37866663 | COSM1749996 | D>G | A:255 | (1.49, 15.17, 68.82) |
| 17:37866707 | COSM4767524 | G>R | A:270 | (-9.45, -12.95, 53.38) |
| 17:37868208 | COSM94225 | S>Y | A:288 | (-1.12, -10.55, 56.82) |
| 17:37872138 | COSM1686255 | R>W | A:465 | (-2.46, -30.90, 64.39) |