General Structure Information
| PDB ID | 2p01 |
| HGNC Gene Label(s) | LRPAP1 |
| Structure Name | the structure of receptor-associated protein(rap) |
| Resolution | -1.0Å |
| Reference | AUTH D.LEE,J.D.WALSH,M.MIGLIORINI,P.YU,T.CAI,AUTH 2 C.D.SCHWIETERS,S.KRUEGER,D.K.STRICKLAND,Y.X.WANGTITL THE STRUCTURE OF RECEPTOR-ASSOCIATED PROTEIN (RAP).REF PROTEIN SCI. V. 16 1628 2007REFN ISSN 0961-8368PMID 17656581DOI 10.1110/PS.072865407 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 323 |
| Number Of SNVs | 109 |
| Number Of Permutations | 79541 |
| Optimal Distance Threshold | 44.0 |
| K Statistic | 0.568 |
| p-value | 0.054 |
COSMIC
| Number Of Residues | 323 |
| Number Of SNVs | 4 |
| Number Of Permutations | 208 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.333 |
| p-value | 0.546 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 109 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 38.0 |
| K Statistic | 0.542 |
| p-value | 0.437 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:3534030 | rs148017639 | R>P | A:3 | (50.28, 36.62, 66.36) |
| 4:3533993 | rs377668697 | E>D | A:15 | (25.47, 16.71, 73.67) |
| 4:3533995 | rs539416757 | E>K | A:15 | (25.47, 16.71, 73.67) |
| 4:3533964 | L>S | A:25 | (13.09, 17.41, 56.19) | |
| 4:3526777 | L>P | A:35 | (26.46, 9.79, 51.54) | |
| 4:3526769 | P>S | A:38 | (32.96, 17.73, 49.07) | |
| 4:3526762 | rs55856346 | V>A | A:40 | (32.21, 23.97, 48.47) |
| 4:3526763 | rs573489074 COSM4124470 |
V>M | A:40 | (32.21, 23.97, 48.47) |
| 4:3526751 | COSM3825777 | E>K | A:44 | (26.42, 24.75, 47.84) |
| 4:3526748 | L>V | A:45 | (23.26, 19.43, 48.89) | |
| 4:3526745 | H>Y | A:46 | (22.40, 22.53, 54.15) | |
| 4:3526739 | D>Y | A:48 | (19.31, 23.64, 47.85) | |
| 4:3526715 | rs146399188 | E>K | A:56 | (7.08, 23.97, 52.16) |
| 4:3526712 | L>F | A:57 | (7.18, 27.79, 55.41) | |
| 4:3526696 | L>P | A:62 | (1.32, 32.00, 48.11) | |
| 4:3526685 | rs11549511 | G>S | A:66 | (-5.64, 32.70, 48.14) |
| 4:3526675 | E>A | A:69 | (-6.50, 27.47, 41.48) | |
| 4:3526676 | E>K | A:69 | (-6.50, 27.47, 41.48) | |
| 4:3526671 | rs139103216 | D>E | A:70 | (-3.58, 25.99, 38.43) |
| 4:3526661 | E>K | A:74 | (2.21, 21.40, 44.62) | |
| 4:3526657 | A>V | A:75 | (3.61, 20.61, 40.32) | |
| 4:3526654 | rs201485938 | R>T | A:76 | (7.19, 25.36, 39.45) |
| 4:3526645 | rs11549516 | R>H | A:79 | (8.62, 17.63, 37.39) |
| 4:3526646 | rs371563601 COSM1054941 |
R>C | A:79 | (8.62, 17.63, 37.39) |
| 4:3526642 | rs2228158 | N>S | A:80 | (11.90, 20.84, 41.79) |
| 4:3526636 | rs34897511 | N>S | A:82 | (11.07, 13.91, 41.28) |
| 4:3521894 | G>R | A:92 | (16.40, 3.91, 45.13) | |
| 4:3521890 | rs577683161 | K>R | A:93 | (11.94, 1.53, 43.18) |
| 4:3521885 | D>Y | A:95 | (10.16, -5.17, 44.46) | |
| 4:3521882 | rs141746328 | A>T | A:96 | (8.43, -5.56, 48.78) |
| 4:3521878 | rs367608534 COSM1285988 |
R>Q | A:97 | (3.07, -5.03, 46.63) |
| 4:3521879 | R>W | A:97 | (3.07, -5.03, 46.63) | |
| 4:3521863 | COSM245494 | N>I | A:102 | (-4.06, 1.47, 50.51) |
| 4:3521837 | rs138080464 | G>R | A:111 | (-7.53, 1.21, 29.57) |
| 4:3521830 | D>G | A:113 | (-8.07, 4.61, 24.50) | |
| 4:3521805 | rs202126851 | W>C | A:121 | (-6.86, -6.26, 26.34) |
| 4:3521806 | W>L | A:121 | (-6.86, -6.26, 26.34) | |
| 4:3521804 | rs141393177 | H>Y | A:122 | (-11.04, -6.93, 23.09) |
| 4:3521800 | K>R | A:123 | (-9.07, -10.60, 17.96) | |
| 4:3520717 | A>V | A:124 | (-6.35, -12.47, 23.01) | |
| 4:3520711 | rs368431663 | T>I | A:126 | (-12.49, -13.89, 23.10) |
| 4:3520698 | F>L | A:130 | (-4.84, -14.33, 25.82) | |
| 4:3520699 | F>C | A:130 | (-4.84, -14.33, 25.82) | |
| 4:3520700 | F>I | A:130 | (-4.84, -14.33, 25.82) | |
| 4:3520694 | rs143848774 | G>S | A:132 | (-5.84, -10.29, 32.62) |
| 4:3520690 | E>G | A:133 | (-3.55, -13.19, 35.01) | |
| 4:3520691 | E>K | A:133 | (-3.55, -13.19, 35.01) | |
| 4:3520686 | E>D | A:134 | (-2.14, -14.49, 30.37) | |
| 4:3520680 | D>E | A:136 | (-1.40, -8.26, 32.40) | |
| 4:3520682 | D>Y | A:136 | (-1.40, -8.26, 32.40) | |
| 4:3520669 | R>Q | A:140 | (3.56, -6.06, 32.44) | |
| 4:3520662 | F>L | A:142 | (1.64, -4.47, 23.77) | |
| 4:3520661 | L>V | A:143 | (3.10, -0.50, 28.14) | |
| 4:3520651 | K>R | A:146 | (3.98, 2.00, 23.12) | |
| 4:3520649 | E>K | A:147 | (8.45, 3.13, 27.41) | |
| 4:3520640 | H>D | A:150 | (8.41, 7.26, 23.01) | |
| 4:3520636 | E>V | A:151 | (13.64, 6.34, 25.22) | |
| 4:3520637 | COSM3946313 | E>K | A:151 | (13.64, 6.34, 25.22) |
| 4:3520629 | N>K | A:153 | (12.01, 7.60, 18.49) | |
| 4:3520630 | rs145265768 | N>S | A:153 | (12.01, 7.60, 18.49) |
| 4:3520628 | V>I | A:154 | (12.34, 11.08, 22.62) | |
| 4:3520609 | S>N | A:160 | (17.31, 15.54, 15.17) | |
| 4:3520601 | rs150001548 | E>K | A:163 | (21.64, 17.94, 12.85) |
| 4:3519917 | rs35108689 | I>V | A:165 | (23.30, 24.34, 13.75) |
| 4:3519913 | H>R | A:166 | (22.98, 28.29, 12.11) | |
| 4:3519909 | E>D | A:167 | (20.34, 25.27, 7.03) | |
| 4:3519911 | rs374011051 | E>K | A:167 | (20.34, 25.27, 7.03) |
| 4:3519908 | N>D | A:168 | (24.80, 24.72, 7.83) | |
| 4:3519905 | V>I | A:169 | (23.97, 19.75, 6.56) | |
| 4:3519892 | S>L | A:173 | (33.43, 14.50, 3.08) | |
| 4:3519874 | rs140204942 | K>T | A:179 | (39.99, 8.23, 12.55) |
| 4:3519869 | S>G | A:181 | (34.06, 3.33, 17.44) | |
| 4:3519866 | COSM1213794 | V>I | A:182 | (33.23, 7.26, 15.25) |
| 4:3519851 | H>Y | A:187 | (24.87, 4.42, 11.18) | |
| 4:3519829 | L>P | A:194 | (15.56, -0.52, 13.57) | |
| 4:3519826 | rs148604784 | R>H | A:195 | (17.40, -6.51, 14.44) |
| 4:3519827 | COSM1054940 | R>C | A:195 | (17.40, -6.51, 14.44) |
| 4:3519824 | S>G | A:196 | (15.80, -5.68, 17.73) | |
| 4:3519821 | I>V | A:197 | (12.37, -2.08, 18.44) | |
| 4:3519815 | Q>E | A:199 | (12.40, -8.73, 14.23) | |
| 4:3519811 | G>V | A:200 | (9.78, -7.76, 18.39) | |
| 4:3519806 | D>N | A:202 | (7.36, -9.14, 13.85) | |
| 4:3519802 | COSM3670333 | R>H | A:203 | (8.01, -12.30, 20.08) |
| 4:3519796 | rs202048919 | R>H | A:205 | (2.90, -8.20, 14.31) |
| 4:3519797 | rs376919981 | R>C | A:205 | (2.90, -8.20, 14.31) |
| 4:3519775 | Y>C | A:212 | (-3.63, -19.08, 20.05) | |
| 4:3519772 | S>N | A:213 | (-4.00, -23.29, 20.10) | |
| 4:3517920 | rs368226243 COSM212463 |
E>K | A:219 | (-9.33, -35.79, 15.51) |
| 4:3517911 | rs562679574 | R>G | A:222 | (-12.49, -40.67, 24.97) |
| 4:3517886 | rs374220727 | A>V | A:230 | (-19.77, -49.53, 16.68) |
| 4:3517887 | A>S | A:230 | (-19.77, -49.53, 16.68) | |
| 4:3517878 | A>T | A:233 | (-20.42, -52.85, 19.74) | |
| 4:3517874 | N>S | A:234 | (-21.69, -56.61, 19.32) | |
| 4:3517872 | L>F | A:235 | (-23.98, -53.27, 15.71) | |
| 4:3517844 | rs192009446 | R>Q | A:244 | (-17.25, -50.77, 6.01) |
| 4:3517845 | rs138120743 | R>W | A:244 | (-17.25, -50.77, 6.01) |
| 4:3516654 | rs534444180 COSM4159036 |
E>G | A:245 | (-21.24, -47.13, 4.25) |
| 4:3516655 | E>Q | A:245 | (-21.24, -47.13, 4.25) | |
| 4:3516649 | L>V | A:247 | (-18.05, -44.54, 10.41) | |
| 4:3516646 | K>Q | A:248 | (-14.95, -45.75, 3.51) | |
| 4:3516637 | E>K | A:251 | (-12.91, -41.71, 7.77) | |
| 4:3516617 | H>Q | A:257 | (-10.80, -30.44, 6.82) | |
| 4:3516615 | N>S | A:258 | (-6.44, -32.02, 7.08) | |
| 4:3516588 | rs201384451 | A>V | A:267 | (-3.18, -20.24, -0.65) |
| 4:3516583 | E>K | A:269 | (2.26, -17.41, 1.97) | |
| 4:3516579 | K>R | A:270 | (0.23, -17.55, -4.53) | |
| 4:3516571 | H>Y | A:273 | (4.34, -13.58, -1.17) | |
| 4:3516568 | A>T | A:274 | (0.45, -11.62, -4.64) | |
| 4:3516564 | E>G | A:275 | (-1.30, -8.72, -1.60) | |
| 4:3516559 | rs1800493 | V>M | A:277 | (2.77, -7.35, -7.03) |
| 4:3516550 | G>S | A:280 | (-3.63, -6.06, -7.72) | |
| 4:3516543 | rs372003322 | R>H | A:282 | (-1.31, -13.62, -9.86) |
| 4:3516544 | R>C | A:282 | (-1.31, -13.62, -9.86) | |
| 4:3516541 | V>L | A:283 | (-5.09, -9.52, -5.08) | |
| 4:3516535 | R>C | A:285 | (-8.32, -15.00, -10.60) | |
| 4:3516532 | S>G | A:286 | (-6.09, -15.19, -4.52) | |
| 4:3516528 | rs140947105 | R>H | A:287 | (-10.02, -11.56, -0.63) |
| 4:3516529 | rs200424526 | R>C | A:287 | (-10.02, -11.56, -0.63) |
| 4:3516519 | COSM321455 | H>P | A:290 | (-8.98, -16.81, 1.27) |
| 4:3516520 | H>Y | A:290 | (-8.98, -16.81, 1.27) | |
| 4:3516517 | rs148077268 | A>T | A:291 | (-13.41, -16.93, 0.73) |
| 4:3516511 | rs200159569 | L>V | A:293 | (-10.22, -23.01, 0.20) |
| 4:3516501 | rs143714310 | R>Q | A:296 | (-16.85, -26.55, 1.97) |
| 4:3516492 | E>G | A:299 | (-19.85, -25.89, 5.37) | |
| 4:3516487 | G>S | A:301 | (-17.16, -28.13, 10.79) | |
| 4:3514736 | rs368995062 | G>S | A:313 | (-27.76, -40.20, 19.65) |
| 4:3514717 | rs146814560 | R>Q | A:319 | (-33.54, -47.56, 20.96) |
| 4:3514718 | R>W | A:319 | (-33.54, -47.56, 20.96) | |
| 4:3514715 | rs143841560 | H>D | A:320 | (-35.63, -48.73, 16.32) |
| 4:3514709 | rs141338615 | E>K | A:322 | (-31.58, -51.57, 10.58) |
| 4:3514706 | L>F | A:323 | (-30.57, -47.21, 14.29) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:3521819 | COSM3661071 | L>M | A:117 | (-4.06, -0.71, 21.44) |
| 4:3519866 | COSM1213794 | V>I | A:182 | (33.23, 7.26, 15.25) |
| 4:3519827 | COSM1054940 | R>C | A:195 | (17.40, -6.51, 14.44) |
| 4:3516526 | COSM3373483 | E>K | A:288 | (-12.87, -15.69, -4.99) |