General Structure Information
| PDB ID | 4bwe |
| HGNC Gene Label(s) | GPC1 |
| Structure Name | crystal structure of c-terminally truncated glypican-1 after controlled dehydration to 86 percent relative humidity |
| Resolution | 2.46Å |
| Reference | AUTH W.AWAD,G.SVENSSON BIRKEDAL,M.M.G.M.THUNNISSEN,K.MANI,AUTH 2 D.T.LOGANTITL IMPROVEMENTS OF THE ORDER, ISOTROPY AND ELECTRON DENSITY OFTITL 2 GLYPICAN-1 CRYSTALS BY CONTROLLED DEHYDRATIONREF ACTA CRYSTALLOGR.,SECT.D V. 69 2524 2013REFN ISSN 0907-4449PMID 24311593DOI 10.1107/S0907444913025250 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 421 |
| Number Of SNVs | 149 |
| Number Of Permutations | 42445 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | 0.482 |
| p-value | 0.026 |
COSMIC
| Number Of Residues | 421 |
| Number Of SNVs | 3 |
| Number Of Permutations | 7 |
| Optimal Distance Threshold | 30.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 149 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | -0.403 |
| p-value | 0.562 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:241375424 | R>Q | D:30 | (-26.95, 46.20, -24.43) | |
| 2:241375451 | Y>C | D:39 | (-15.21, 32.46, -29.95) | |
| 2:241375475 | rs371651045 | S>N | D:47 | (-18.49, 34.78, -37.95) |
| 2:241375488 | Q>H | D:51 | (-22.98, 43.73, -33.74) | |
| 2:241398458 | R>W | D:60 | (-30.65, 23.96, -25.40) | |
| 2:241398459 | rs141069921 | R>Q | D:60 | (-30.65, 23.96, -25.40) |
| 2:241398461 | I>V | D:61 | (-25.76, 25.00, -21.18) | |
| 2:241398486 | C>Y | D:69 | (-23.23, 33.52, -27.00) | |
| 2:241398494 | rs200321707 | E>K | D:72 | (-22.42, 26.61, -32.84) |
| 2:241398518 | rs565369538 | R>C | D:80 | (-11.55, 24.93, -25.92) |
| 2:241398522 | S>N | D:81 | (-14.14, 23.45, -21.26) | |
| 2:241398530 | E>K | D:84 | (-9.39, 23.56, -21.07) | |
| 2:241398543 | rs148564112 | A>V | D:88 | (-5.27, 19.01, -16.42) |
| 2:241398548 | rs541416018 | R>W | D:90 | (-4.42, 13.62, -20.08) |
| 2:241398549 | rs150959912 | R>Q | D:90 | (-4.42, 13.62, -20.08) |
| 2:241398560 | COSM1669899 | R>C | D:94 | (1.68, 13.34, -17.84) |
| 2:241398561 | rs140790256 | R>H | D:94 | (1.68, 13.34, -17.84) |
| 2:241398563 | rs146749086 | V>I | D:95 | (3.28, 14.12, -12.80) |
| 2:241398576 | rs6717362 | M>T | D:99 | (6.75, 9.56, -8.92) |
| 2:241398578 | rs138434031 | L>F | D:100 | (5.15, 6.03, -9.45) |
| 2:241398581 | A>T | D:101 | (8.51, 5.27, -12.65) | |
| 2:241398593 | R>C | D:105 | (13.71, 2.17, -11.64) | |
| 2:241398594 | rs373974894 | R>H | D:105 | (13.71, 2.17, -11.64) |
| 2:241398598 | S>R | D:106 | (15.37, 3.32, -8.73) | |
| 2:241398600 | rs377640716 | F>Y | D:107 | (13.78, 1.10, -5.06) |
| 2:241401631 | rs376569826 | D>N | D:117 | (28.09, -6.54, -5.92) |
| 2:241401640 | COSM1018701 | R>W | D:120 | (30.00, -8.44, -10.03) |
| 2:241401641 | rs368981259 | R>Q | D:120 | (30.00, -8.44, -10.03) |
| 2:241401644 | rs139334776 | T>M | D:121 | (32.27, -10.28, -4.79) |
| 2:241401655 | T>A | D:125 | (36.77, -13.90, -3.53) | |
| 2:241401659 | rs200792251 | F>C | D:126 | (34.42, -17.82, -3.90) |
| 2:241401660 | F>L | D:126 | (34.42, -17.82, -3.90) | |
| 2:241401661 | rs150046174 | P>S | D:127 | (38.80, -18.07, -7.17) |
| 2:241401662 | P>H | D:127 | (38.80, -18.07, -7.17) | |
| 2:241401664 | rs373679176 | G>S | D:128 | (41.50, -18.22, -4.21) |
| 2:241401667 | A>T | D:129 | (39.93, -19.49, -1.61) | |
| 2:241401673 | rs34976040 | G>R | D:131 | (39.74, -22.93, -6.18) |
| 2:241401680 | L>P | D:133 | (36.54, -26.26, -4.46) | |
| 2:241401686 | T>M | D:135 | (37.09, -23.26, -10.86) | |
| 2:241401694 | A>T | D:138 | (30.79, -21.69, -11.53) | |
| 2:241401707 | rs140826218 | R>Q | D:142 | (27.47, -19.16, -13.63) |
| 2:241401709 | rs531757424 | D>Y | D:143 | (22.83, -21.76, -12.77) |
| 2:241401712 | L>V | D:144 | (21.91, -19.97, -7.57) | |
| 2:241401727 | COSM1018702 | R>C | D:149 | (19.05, -13.02, -11.78) |
| 2:241401728 | rs138375141 | R>H | D:149 | (19.05, -13.02, -11.78) |
| 2:241401737 | Y>S | D:152 | (13.39, -9.21, -8.10) | |
| 2:241401739 | R>C | D:153 | (11.53, -11.32, -13.62) | |
| 2:241401740 | R>H | D:153 | (11.53, -11.32, -13.62) | |
| 2:241401742 | G>S | D:154 | (7.91, -13.14, -10.67) | |
| 2:241401746 | A>D | D:155 | (8.83, -15.67, -11.98) | |
| 2:241401749 | N>I | D:156 | (7.22, -18.18, -8.51) | |
| 2:241401760 | rs373543083 | E>K | D:160 | (12.42, -23.60, 0.37) |
| 2:241401767 | T>M | D:162 | (16.10, -23.64, -5.87) | |
| 2:241401775 | E>K | D:165 | (18.22, -28.58, -6.94) | |
| 2:241401780 | F>L | D:166 | (23.07, -25.05, -5.07) | |
| 2:241401785 | rs199566765 | A>V | D:168 | (22.61, -31.49, -3.19) |
| 2:241401787 | R>C | D:169 | (22.89, -31.27, -8.43) | |
| 2:241401788 | rs557977354 COSM4092828 |
R>H | D:169 | (22.89, -31.27, -8.43) |
| 2:241401796 | rs376762179 | E>K | D:172 | (26.47, -34.71, -6.05) |
| 2:241401799 | rs149353022 | R>C | D:173 | (30.61, -31.42, -8.52) |
| 2:241401800 | R>H | D:173 | (30.61, -31.42, -8.52) | |
| 2:241401819 | H>Q | D:179 | (37.33, -37.85, -0.57) | |
| 2:241401820 | P>S | D:180 | (39.81, -37.82, -5.03) | |
| 2:241401821 | P>L | D:180 | (39.81, -37.82, -5.03) | |
| 2:241401838 | rs533921420 | D>N | D:186 | (24.57, -42.43, -9.58) |
| 2:241401843 | D>E | D:187 | (22.66, -45.40, -5.67) | |
| 2:241401853 | C>R | D:191 | (23.09, -42.45, 0.25) | |
| 2:241401868 | A>T | D:196 | (22.69, -34.86, 4.29) | |
| 2:241401875 | rs200136097 COSM4092829 |
A>V | D:198 | (20.90, -34.23, 9.81) |
| 2:241401881 | R>Q | D:200 | (22.77, -30.81, 10.64) | |
| 2:241401884 | P>R | D:201 | (27.04, -30.95, 5.83) | |
| 2:241401889 | rs373944004 | G>R | D:203 | (25.49, -26.22, 8.31) |
| 2:241401890 | G>A | D:203 | (25.49, -26.22, 8.31) | |
| 2:241401892 | E>Q | D:204 | (24.88, -22.32, 9.85) | |
| 2:241401893 | E>V | D:204 | (24.88, -22.32, 9.85) | |
| 2:241401895 | A>P | D:205 | (24.20, -21.74, 6.02) | |
| 2:241401899 | rs371738379 | P>L | D:206 | (21.93, -23.53, 4.40) |
| 2:241401908 | L>P | D:209 | (20.58, -18.36, 2.72) | |
| 2:241401910 | rs200794161 COSM720927 |
R>C | D:210 | (15.99, -21.72, 3.95) |
| 2:241401911 | R>H | D:210 | (15.99, -21.72, 3.95) | |
| 2:241401914 | L>P | D:211 | (14.95, -18.26, 6.93) | |
| 2:241401916 | R>W | D:212 | (18.21, -14.47, 7.21) | |
| 2:241401917 | rs545177373 | R>Q | D:212 | (18.21, -14.47, 7.21) |
| 2:241401925 | R>G | D:215 | (12.55, -13.28, 6.14) | |
| 2:241401926 | rs143813409 | R>H | D:215 | (12.55, -13.28, 6.14) |
| 2:241401928 | A>T | D:216 | (14.31, -10.09, 1.33) | |
| 2:241401934 | rs368146643 | V>M | D:218 | (9.43, -11.28, -0.52) |
| 2:241401943 | rs368508405 | R>C | D:221 | (8.65, -10.25, -5.25) |
| 2:241401959 | rs200763451 COSM4133651 |
G>V | D:226 | (3.54, -1.87, -6.21) |
| 2:241401967 | V>M | D:229 | (0.07, -1.85, -9.31) | |
| 2:241401973 | S>G | D:231 | (1.53, 2.98, -12.47) | |
| 2:241401976 | rs543077300 COSM1208529 |
D>N | D:232 | (-0.73, 0.00, -14.22) |
| 2:241401979 | V>M | D:233 | (-4.08, 2.25, -11.26) | |
| 2:241401985 | R>W | D:235 | (-1.79, 3.15, -17.64) | |
| 2:241401986 | rs146133433 | R>Q | D:235 | (-1.79, 3.15, -17.64) |
| 2:241402777 | P>L | D:244 | (-22.12, 14.44, -20.47) | |
| 2:241402779 | E>Q | D:245 | (-24.23, 16.56, -16.54) | |
| 2:241402786 | S>L | D:247 | (-19.33, 19.13, -19.91) | |
| 2:241402792 | rs368952537 | A>V | D:249 | (-21.08, 21.97, -15.46) |
| 2:241402795 | V>G | D:250 | (-17.44, 22.72, -16.73) | |
| 2:241402833 | P>A | D:263 | (-15.90, 38.36, -18.87) | |
| 2:241402836 | rs150681136 | G>S | D:264 | (-14.05, 38.87, -15.47) |
| 2:241402839 | COSM210603 | A>T | D:265 | (-15.64, 36.73, -13.89) |
| 2:241402851 | P>S | D:269 | (-14.05, 28.65, -4.72) | |
| 2:241402852 | P>L | D:269 | (-14.05, 28.65, -4.72) | |
| 2:241402855 | D>V | D:270 | (-16.94, 26.51, -2.72) | |
| 2:241402864 | COSM1018704 | R>Q | D:273 | (-14.51, 22.64, -3.49) |
| 2:241402884 | L>F | D:280 | (-13.43, 13.87, -10.33) | |
| 2:241402893 | rs149889796 | Q>E | D:283 | (-11.97, 9.38, -10.15) |
| 2:241402896 | A>T | D:284 | (-12.61, 9.53, -5.09) | |
| 2:241402899 | D>N | D:285 | (-14.35, 6.06, -4.66) | |
| 2:241402905 | D>N | D:287 | (-8.72, 7.52, -1.00) | |
| 2:241402908 | rs144394036 | A>T | D:288 | (-8.90, 3.88, 0.53) |
| 2:241404038 | M>V | D:297 | (4.52, 0.35, -0.26) | |
| 2:241404044 | L>F | D:299 | (4.99, -1.05, 6.56) | |
| 2:241404053 | rs550678562 COSM4092830 |
D>N | D:302 | (10.35, -1.27, 7.85) |
| 2:241404057 | K>R | D:303 | (11.13, -5.78, 6.84) | |
| 2:241404062 | W>G | D:305 | (16.39, -0.82, 6.42) | |
| 2:241404066 | G>D | D:306 | (18.89, -5.48, 9.11) | |
| 2:241404072 | rs138318645 | S>L | D:308 | (16.98, -9.98, 7.37) |
| 2:241404077 | V>M | D:310 | (17.69, -6.18, 1.27) | |
| 2:241404081 | E>V | D:311 | (21.87, -3.81, 1.82) | |
| 2:241404084 | S>N | D:312 | (22.17, -7.98, 4.52) | |
| 2:241404092 | G>S | D:315 | (24.60, -8.91, -1.39) | |
| 2:241404105 | rs536435940 | T>M | D:319 | (28.68, -14.80, 2.53) |
| 2:241404126 | rs201247940 | N>S | D:326 | (34.78, -23.15, 4.36) |
| 2:241404128 | A>T | D:327 | (31.98, -26.19, 6.57) | |
| 2:241404150 | T>M | D:334 | (33.31, -36.44, 11.25) | |
| 2:241404158 | A>S | D:337 | (32.60, -41.78, 8.62) | |
| 2:241404297 | K>E | D:347 | (37.88, -49.09, -1.09) | |
| 2:241404379 | rs200248156 | T>K | D:374 | (21.80, 4.01, -2.04) |
| 2:241404391 | L>Q | D:378 | (16.39, 5.44, -2.59) | |
| 2:241404500 | E>K | D:381 | (12.91, 10.82, -2.20) | |
| 2:241404510 | A>V | D:384 | (8.19, 11.66, 0.50) | |
| 2:241404518 | R>C | D:387 | (3.42, 9.04, 3.44) | |
| 2:241404519 | R>H | D:387 | (3.42, 9.04, 3.44) | |
| 2:241404521 | COSM1406797 | D>N | D:388 | (2.98, 14.26, -1.58) |
| 2:241404524 | rs78856284 | V>I | D:389 | (0.88, 11.05, -3.54) |
| 2:241404563 | S>G | D:402 | (-6.44, 26.51, -6.83) | |
| 2:241404571 | K>N | D:404 | (-4.96, 25.74, -13.01) | |
| 2:241404573 | M>T | D:405 | (-10.13, 27.23, -12.53) | |
| 2:241404574 | M>I | D:405 | (-10.13, 27.23, -12.53) | |
| 2:241404575 | A>S | D:406 | (-10.01, 30.39, -8.76) | |
| 2:241404614 | M>L | D:419 | (-26.88, 33.21, -11.84) | |
| 2:241404626 | R>W | D:423 | (-23.15, 35.21, -1.32) | |
| 2:241404897 | rs201152753 | P>A | D:426 | (-24.18, 26.44, -2.08) |
| 2:241404900 | rs200876630 | E>K | D:427 | (-22.45, 23.89, 1.94) |
| 2:241404902 | E>D | D:427 | (-22.45, 23.89, 1.94) | |
| 2:241404904 | V>A | D:428 | (-18.93, 21.68, -0.27) | |
| 2:241404906 | rs201849980 | M>V | D:429 | (-20.88, 18.23, -1.60) |
| 2:241404907 | M>T | D:429 | (-20.88, 18.23, -1.60) | |
| 2:241404910 | G>D | D:430 | (-18.35, 15.28, -0.48) | |
| 2:241404915 | G>S | D:432 | (-17.64, 10.64, -3.65) | |
| 2:241404922 | rs370899880 | A>V | D:434 | (-22.62, 8.90, -2.83) |
| 2:241404940 | P>R | D:440 | (-25.85, 21.23, -6.64) | |
| 2:241404951 | rs374378112 | V>M | D:444 | (-24.44, 12.12, -10.31) |
| 2:241404954 | D>Y | D:445 | (-26.40, 7.68, -11.20) | |
| 2:241404963 | K>E | D:448 | (-22.44, 4.21, -13.08) | |
| 2:241404981 | R>W | D:454 | (-15.50, -0.03, -8.40) | |
| 2:241404987 | Q>E | D:456 | (-7.98, -0.55, -11.10) | |
| 2:241404993 | M>V | D:458 | (-10.04, -5.78, -6.35) | |
| 2:241404994 | M>T | D:458 | (-10.04, -5.78, -6.35) | |
| 2:241404999 | L>V | D:460 | (-5.31, -1.34, -5.21) | |
| 2:241405005 | I>V | D:462 | (-4.96, -8.14, -4.89) | |
| 2:241405007 | I>M | D:462 | (-4.96, -8.14, -4.89) | |
| 2:241405009 | M>T | D:463 | (-0.55, -5.67, -4.42) | |
| 2:241405017 | rs370391685 | R>W | D:466 | (0.20, -9.63, -3.82) |
| 2:241405018 | rs544444707 | R>Q | D:466 | (0.20, -9.63, -3.82) |
| 2:241405023 | rs562620992 | R>C | D:468 | (-1.14, -6.73, 5.30) |
| 2:241405024 | rs541996291 | R>H | D:468 | (-1.14, -6.73, 5.30) |
| 2:241405026 | S>G | D:469 | (1.93, -11.39, 3.23) | |
| 2:241405029 | A>T | D:470 | (5.39, -9.74, 2.85) | |
| 2:241405035 | N>D | D:472 | (4.36, -11.51, 7.87) | |
| 2:241405038 | rs151028466 | G>S | D:473 | (7.60, -13.53, 5.26) |
| 2:241405044 | D>N | D:475 | (5.62, -16.21, -1.25) | |
| 2:241405047 | V>M | D:476 | (1.64, -15.30, -2.30) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:241398560 | COSM1669899 | R>C | D:94 | (1.68, 13.34, -17.84) |
| 2:241401910 | COSM720927 | R>C | D:210 | (15.99, -21.72, 3.95) |
| 2:241404942 | COSM3579857 | E>K | D:441 | (-23.90, 22.73, -9.52) |