General Structure Information
| PDB ID | 2qqk |
| HGNC Gene Label(s) | NRP2 |
| Structure Name | neuropilin-2 a1a2b1b2 domains in complex with a semaphorin-blocking fab |
| Resolution | 2.75Å |
| Reference | AUTH B.A.APPLETON,P.WU,J.MALONEY,J.YIN,W.C.LIANG,S.STAWICKI,AUTH 2 K.MORTARA,K.K.BOWMAN,J.M.ELLIOTT,W.DESMARAIS,J.F.BAZAN,AUTH 3 A.BAGRI,M.TESSIER-LAVIGNE,A.W.KOCH,Y.WU,R.J.WATTS,C.WIESMANNTITL STRUCTURAL STUDIES OF NEUROPILIN/ANTIBODY COMPLEXES PROVIDETITL 2 INSIGHTS INTO SEMAPHORIN AND VEGF BINDINGREF EMBO J. V. 26 4902 2007REFN ISSN 0261-4189PMID 17989695DOI 10.1038/SJ.EMBOJ.7601906 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 541 |
| Number Of SNVs | 140 |
| Number Of Permutations | 68248 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | 0.378 |
| p-value | 0.029 |
COSMIC
| Number Of Residues | 541 |
| Number Of SNVs | 4 |
| Number Of Permutations | 574 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.167 |
| p-value | 0.425 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 140 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 42.0 |
| K Statistic | 0.183 |
| p-value | 0.828 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:206562283 | G>D | A:30 | (-15.21, -47.20, -41.73) | |
| 2:206562286 | COSM209704 | R>H | A:31 | (-17.61, -47.61, -45.81) |
| 2:206562324 | G>S | A:44 | (-6.98, -44.40, -28.00) | |
| 2:206562336 | D>H | A:48 | (-0.78, -47.31, -25.52) | |
| 2:206562345 | rs200272716 | S>A | A:51 | (-3.52, -55.98, -28.32) |
| 2:206562346 | S>F | A:51 | (-3.52, -55.98, -28.32) | |
| 2:206562360 | E>K | A:56 | (-10.96, -52.24, -42.17) | |
| 2:206562376 | A>V | A:61 | (-15.29, -38.87, -52.62) | |
| 2:206562381 | COSM3682516 COSM3682517 |
E>K | A:63 | (-17.03, -36.67, -57.17) |
| 2:206562402 | rs545784428 | L>V | A:70 | (-4.10, -38.87, -46.12) |
| 2:206562412 | N>S | A:73 | (0.45, -36.24, -36.15) | |
| 2:206580962 | D>E | A:99 | (-2.01, -50.41, -55.52) | |
| 2:206581002 | I>V | A:113 | (-0.73, -40.31, -48.89) | |
| 2:206581033 | rs849541 | R>K | A:123 | (-5.09, -52.77, -42.41) |
| 2:206581038 | T>S | A:125 | (-2.40, -54.37, -37.88) | |
| 2:206581077 | R>C | A:138 | (-4.96, -33.43, -40.36) | |
| 2:206581083 | rs150835990 | E>Q | A:140 | (-8.65, -32.82, -46.93) |
| 2:206587207 | E>K | A:147 | (-12.93, -29.86, -66.68) | |
| 2:206587210 | D>Y | A:148 | (-16.83, -29.93, -63.04) | |
| 2:206587238 | rs547293929 | N>I | A:157 | (-34.30, -32.93, -79.31) |
| 2:206587246 | I>V | A:160 | (-24.11, -36.96, -75.40) | |
| 2:206587249 | E>K | A:161 | (-20.31, -35.14, -77.64) | |
| 2:206587252 | S>T | A:162 | (-16.58, -36.75, -76.08) | |
| 2:206587277 | P>R | A:170 | (-9.13, -35.07, -73.20) | |
| 2:206587294 | T>A | A:176 | (-21.12, -37.46, -65.01) | |
| 2:206587322 | M>K | A:185 | (-41.44, -39.94, -70.95) | |
| 2:206587323 | rs372681346 | M>I | A:185 | (-41.44, -39.94, -70.95) |
| 2:206587327 | rs150011205 | I>V | A:187 | (-34.52, -42.47, -71.77) |
| 2:206587405 | L>M | A:213 | (-18.59, -45.46, -71.31) | |
| 2:206587432 | V>I | A:222 | (-25.97, -45.92, -56.60) | |
| 2:206588511 | G>C | A:223 | (-26.98, -47.83, -59.48) | |
| 2:206588518 | L>P | A:225 | (-23.55, -51.43, -64.25) | |
| 2:206588523 | G>S | A:227 | (-22.20, -51.12, -68.80) | |
| 2:206588551 | S>F | A:236 | (-26.50, -51.21, -78.00) | |
| 2:206588559 | COSM1691852 COSM3576603 COSM3576604 COSM1691853 |
R>C | A:239 | (-35.66, -48.36, -76.06) |
| 2:206588560 | rs201324375 | R>H | A:239 | (-35.66, -48.36, -76.06) |
| 2:206588566 | rs563060469 | S>L | A:241 | (-38.70, -46.87, -67.57) |
| 2:206588569 | rs138033888 | T>M | A:242 | (-36.00, -45.49, -64.44) |
| 2:206588577 | L>F | A:245 | (-29.72, -43.19, -68.12) | |
| 2:206588596 | rs113330212 | T>M | A:251 | (-9.76, -40.55, -69.49) |
| 2:206588605 | A>V | A:254 | (-2.31, -42.58, -72.94) | |
| 2:206588629 | rs370384347 | A>V | A:262 | (-24.41, -39.75, -78.83) |
| 2:206588631 | R>C | A:263 | (-29.14, -39.70, -81.24) | |
| 2:206588632 | rs199881632 | R>H | A:263 | (-29.14, -39.70, -81.24) |
| 2:206588634 | Y>H | A:264 | (-31.39, -37.28, -75.31) | |
| 2:206588640 | L>M | A:266 | (-37.34, -38.06, -74.00) | |
| 2:206588644 | V>A | A:267 | (-40.80, -41.13, -75.97) | |
| 2:206590645 | C>G | A:277 | (-47.71, -58.94, -69.36) | |
| 2:206590648 | N>Y | A:278 | (-48.45, -60.81, -73.43) | |
| 2:206590649 | N>S | A:278 | (-48.45, -60.81, -73.43) | |
| 2:206590651 | V>I | A:279 | (-45.01, -58.21, -74.92) | |
| 2:206590654 | rs79750907 | P>S | A:280 | (-42.74, -59.51, -77.28) |
| 2:206590663 | M>V | A:283 | (-34.68, -62.34, -79.15) | |
| 2:206590666 | rs377035589 | E>K | A:284 | (-38.38, -62.07, -83.88) |
| 2:206590676 | rs114305456 | R>Q | A:287 | (-36.50, -53.16, -79.36) |
| 2:206590679 | I>T | A:288 | (-32.82, -58.23, -77.12) | |
| 2:206590681 | A>T | A:289 | (-28.94, -56.86, -78.53) | |
| 2:206590696 | S>G | A:294 | (-24.74, -64.98, -73.64) | |
| 2:206590715 | S>C | A:300 | (-16.01, -75.03, -82.99) | |
| 2:206590720 | rs368857132 | G>R | A:302 | (-18.99, -70.44, -85.56) |
| 2:206590721 | rs369347008 | G>E | A:302 | (-18.99, -70.44, -85.56) |
| 2:206590732 | P>S | A:306 | (-25.18, -66.81, -79.17) | |
| 2:206590744 | R>W | A:310 | (-32.36, -63.31, -82.36) | |
| 2:206590745 | rs372080377 COSM124852 |
R>Q | A:310 | (-32.36, -63.31, -82.36) |
| 2:206590751 | H>P | A:312 | (-39.08, -67.54, -86.34) | |
| 2:206590754 | G>D | A:313 | (-34.04, -67.71, -87.75) | |
| 2:206590780 | rs200002477 | L>M | A:322 | (-19.97, -80.50, -74.95) |
| 2:206590784 | D>G | A:323 | (-23.99, -81.68, -76.08) | |
| 2:206590787 | rs371668549 | S>C | A:324 | (-24.44, -80.88, -71.23) |
| 2:206592615 | V>L | A:331 | (-30.67, -63.01, -71.84) | |
| 2:206592625 | COSM4090461 COSM4090462 COSM4090463 |
R>H | A:334 | (-28.94, -54.34, -70.35) |
| 2:206592643 | rs150064130 | T>M | A:340 | (-44.81, -64.01, -68.56) |
| 2:206592645 | A>T | A:341 | (-43.05, -66.33, -71.32) | |
| 2:206592661 | G>E | A:346 | (-34.98, -75.32, -83.12) | |
| 2:206592664 | A>V | A:347 | (-32.50, -76.09, -85.70) | |
| 2:206592673 | R>K | A:350 | (-28.19, -72.07, -94.11) | |
| 2:206592683 | rs376340891 | Q>H | A:353 | (-30.19, -80.62, -94.96) |
| 2:206592686 | rs149039089 | N>K | A:354 | (-29.39, -82.48, -90.08) |
| 2:206592694 | Y>S | A:357 | (-35.47, -81.66, -81.15) | |
| 2:206592696 | V>I | A:358 | (-34.27, -78.73, -76.61) | |
| 2:206592702 | S>T | A:360 | (-35.97, -80.32, -71.71) | |
| 2:206592730 | G>E | A:369 | (-25.37, -62.39, -62.43) | |
| 2:206592732 | E>K | A:370 | (-22.92, -62.92, -58.86) | |
| 2:206592741 | M>V | A:373 | (-33.96, -68.62, -58.89) | |
| 2:206592744 | V>L | A:374 | (-33.81, -72.74, -60.23) | |
| 2:206592751 | R>Q | A:376 | (-37.98, -74.49, -57.21) | |
| 2:206592757 | G>V | A:378 | (-42.70, -76.37, -55.51) | |
| 2:206605262 | rs201603089 | D>A | A:389 | (-39.97, -80.40, -84.37) |
| 2:206605288 | L>I | A:398 | (-44.14, -68.70, -66.23) | |
| 2:206605292 | H>R | A:399 | (-46.71, -70.94, -62.28) | |
| 2:206605294 | rs367956491 COSM3838378 COSM3838379 COSM3838380 |
A>T | A:400 | (-45.13, -67.68, -61.85) |
| 2:206605307 | T>I | A:404 | (-35.74, -60.74, -63.81) | |
| 2:206605325 | rs138662221 | R>H | A:410 | (-29.30, -74.66, -67.38) |
| 2:206605339 | H>Y | A:415 | (-33.19, -85.37, -81.51) | |
| 2:206605351 | rs146073574 | A>T | A:419 | (-30.51, -76.26, -80.62) |
| 2:206605358 | R>Q | A:421 | (-34.55, -70.95, -83.19) | |
| 2:206605366 | L>F | A:424 | (-38.15, -63.93, -73.79) | |
| 2:206605378 | rs139711818 | R>W | A:428 | (-40.09, -52.44, -68.99) |
| 2:206607956 | rs551278469 | L>F | A:441 | (-33.08, -49.15, -58.19) |
| 2:206607965 | L>V | A:444 | (-34.16, -40.20, -57.20) | |
| 2:206607968 | rs201900948 | I>L | A:445 | (-34.76, -42.11, -52.58) |
| 2:206607984 | I>T | A:450 | (-33.16, -44.68, -46.22) | |
| 2:206607992 | S>P | A:453 | (-35.26, -49.56, -36.40) | |
| 2:206608017 | rs530582033 | S>I | A:461 | (-24.92, -47.99, -45.62) |
| 2:206608020 | P>R | A:462 | (-28.11, -46.29, -46.16) | |
| 2:206608023 | S>N | A:463 | (-27.17, -47.81, -49.96) | |
| 2:206608025 | A>T | A:464 | (-27.90, -51.56, -48.32) | |
| 2:206608031 | COSM1217852 COSM1217853 |
R>C | A:466 | (-30.56, -48.45, -52.42) |
| 2:206608045 | S>R | A:470 | (-27.48, -53.66, -52.66) | |
| 2:206608046 | R>C | A:471 | (-24.31, -56.27, -54.14) | |
| 2:206608047 | rs149849497 | R>H | A:471 | (-24.31, -56.27, -54.14) |
| 2:206608050 | rs200906927 | S>L | A:472 | (-26.21, -56.34, -48.81) |
| 2:206608060 | F>L | A:475 | (-29.03, -57.57, -42.14) | |
| 2:206608061 | rs546952277 | P>S | A:476 | (-31.58, -56.19, -37.97) |
| 2:206608062 | P>R | A:476 | (-31.58, -56.19, -37.97) | |
| 2:206608065 | R>Q | A:477 | (-28.64, -54.99, -32.13) | |
| 2:206608085 | G>S | A:484 | (-43.69, -55.88, -35.17) | |
| 2:206608086 | rs147580347 | G>A | A:484 | (-43.69, -55.88, -35.17) |
| 2:206608103 | rs375155400 | V>I | A:490 | (-38.84, -44.63, -47.22) |
| 2:206608109 | L>M | A:492 | (-41.03, -40.67, -50.67) | |
| 2:206608121 | K>Q | A:496 | (-45.66, -39.39, -53.58) | |
| 2:206608125 | T>I | A:497 | (-49.96, -42.02, -54.90) | |
| 2:206608133 | COSM269737 COSM3576611 COSM3576612 |
G>S | A:500 | (-46.50, -50.35, -53.74) |
| 2:206608151 | A>T | A:506 | (-30.12, -60.59, -48.59) | |
| 2:206608152 | A>V | A:506 | (-30.12, -60.59, -48.59) | |
| 2:206608154 | R>C | A:507 | (-24.95, -61.41, -51.15) | |
| 2:206608155 | rs537993529 | R>H | A:507 | (-24.95, -61.41, -51.15) |
| 2:206608190 | A>T | A:519 | (-31.86, -63.87, -45.74) | |
| 2:206608196 | V>L | A:521 | (-38.94, -61.33, -45.39) | |
| 2:206608200 | COSM442161 COSM1482675 |
R>H | A:522 | (-41.01, -66.81, -45.44) |
| 2:206608217 | rs373407554 | Y>H | A:528 | (-50.24, -45.41, -44.53) |
| 2:206608229 | G>S | A:532 | (-43.92, -39.35, -38.82) | |
| 2:206608233 | K>R | A:533 | (-44.71, -38.90, -34.59) | |
| 2:206608241 | E>Q | A:536 | (-53.23, -45.58, -41.16) | |
| 2:206608242 | E>G | A:536 | (-53.23, -45.58, -41.16) | |
| 2:206608248 | I>T | A:538 | (-52.48, -51.62, -45.27) | |
| 2:206608251 | Q>R | A:539 | (-56.49, -52.58, -42.52) | |
| 2:206608266 | Q>R | A:544 | (-61.62, -55.44, -39.69) | |
| 2:206610485 | M>L | A:553 | (-39.88, -68.40, -51.74) | |
| 2:206610501 | P>L | A:558 | (-37.64, -60.01, -56.69) | |
| 2:206610510 | R>Q | A:561 | (-46.38, -58.43, -53.23) | |
| 2:206610513 | R>K | A:562 | (-49.37, -54.23, -57.38) | |
| 2:206610519 | rs368539545 | D>G | A:564 | (-55.79, -50.34, -52.47) |
| 2:206610526 | I>M | A:566 | (-52.13, -45.00, -50.09) | |
| 2:206610535 | Q>H | A:569 | (-43.55, -37.98, -47.42) | |
| 2:206610536 | Y>H | A:570 | (-42.48, -40.02, -44.25) | |
| 2:206610543 | COSM442162 COSM1134140 |
R>Q | A:572 | (-42.52, -47.39, -40.93) |
| 2:206610570 | A>V | A:581 | (-30.63, -66.20, -40.80) | |
| 2:206610576 | I>T | A:583 | (-34.68, -59.77, -40.82) | |
| 2:206610579 | G>A | A:584 | (-33.52, -59.63, -44.80) | |
| 2:206610584 | COSM2713322 COSM2713323 COSM3933513 |
R>W | A:586 | (-32.15, -56.37, -51.20) |
| 2:206610585 | rs371257328 | R>Q | A:586 | (-32.15, -56.37, -51.20) |
| 2:206610602 | C>S | A:592 | (-47.53, -41.55, -58.29) | |
| 2:206610608 | rs145001167 | W>R | A:594 | (-51.48, -36.11, -54.37) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:206562286 | COSM209704 | R>H | A:31 | (-17.61, -47.61, -45.81) |
| 2:206562373 | COSM3682512 | Y>S | A:60 | (-16.65, -41.49, -49.45) |
| 2:206580936 | COSM3909371 | R>W | A:91 | (-3.60, -51.06, -49.77) |
| 2:206588559 | COSM4708203 | R>C | A:239 | (-35.66, -48.36, -76.06) |
| 2:206588596 | COSM4708204 | T>M | A:251 | (-9.76, -40.55, -69.49) |
| 2:206590654 | COSM5019694 | P>S | A:280 | (-42.74, -59.51, -77.28) |
| 2:206605324 | COSM240924 | R>C | A:410 | (-29.30, -74.66, -67.38) |
| 2:206608133 | COSM269737 | G>C | A:500 | (-46.50, -50.35, -53.74) |