General Structure Information
| PDB ID | 1j72 |
| HGNC Gene Label(s) | CAPG |
| Structure Name | crystal structure of mutant macrophage capping protein (cap g) with actin-severing activity in the ca2+-free form |
| Resolution | 2.5Å |
| Reference | AUTH S.M.VOROBIEV,F.S.SOUTHWICK,B.STOROKOPYTOV,S.C.ALMOTITL CRYSTAL STRUCTURE OF MUTANT HUMAN MACROPHAGE CAPPING PROTEINREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 337 |
| Number Of SNVs | 95 |
| Number Of Permutations | 59354 |
| Optimal Distance Threshold | 29.0 |
| K Statistic | 0.404 |
| p-value | 0.999 |
COSMIC
| Number Of Residues | 337 |
| Number Of SNVs | 5 |
| Number Of Permutations | 598 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.1 |
| p-value | 0.442 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 95 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | -0.198 |
| p-value | 0.705 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:85629039 | H>R | A:22 | (-36.37, 86.82, -14.83) | |
| 2:85629031 | R>W | A:25 | (-33.44, 84.79, -2.10) | |
| 2:85629025 | E>K | A:27 | (-36.51, 83.81, 1.48) | |
| 2:85629012 | rs140150295 | P>L | A:31 | (-40.84, 84.43, -4.35) |
| 2:85629013 | P>S | A:31 | (-40.84, 84.43, -4.35) | |
| 2:85629003 | V>A | A:34 | (-32.13, 88.49, -7.05) | |
| 2:85629004 | V>L | A:34 | (-32.13, 88.49, -7.05) | |
| 2:85629000 | rs142150224 | A>V | A:35 | (-30.42, 91.88, -6.87) |
| 2:85628998 | Q>E | A:36 | (-29.53, 92.82, -10.39) | |
| 2:85628986 | rs147213673 | G>C | A:40 | (-24.42, 84.89, -9.32) |
| 2:85628983 | rs2229668 | V>I | A:41 | (-24.46, 85.52, -5.94) |
| 2:85628980 | rs138195193 | F>L | A:42 | (-26.64, 81.56, -6.38) |
| 2:85628973 | rs373269135 | S>L | A:44 | (-25.88, 77.42, 0.18) |
| 2:85628964 | S>F | A:47 | (-33.39, 77.51, -3.14) | |
| 2:85628958 | L>P | A:49 | (-36.77, 80.10, -9.06) | |
| 2:85628956 | V>L | A:50 | (-33.30, 80.79, -12.74) | |
| 2:85628949 | H>R | A:52 | (-33.31, 82.46, -20.31) | |
| 2:85628950 | H>Y | A:52 | (-33.31, 82.46, -20.31) | |
| 2:85628944 | G>S | A:54 | (-36.16, 84.48, -25.38) | |
| 2:85628924 | H>Q | A:60 | (-35.35, 77.23, -20.36) | |
| 2:85628791 | R>Q | A:71 | (-36.13, 68.09, -0.18) | |
| 2:85628762 | A>P | A:81 | (-42.03, 76.30, -9.98) | |
| 2:85628759 | V>M | A:82 | (-45.37, 74.83, -10.60) | |
| 2:85628731 | rs371246622 | R>P | A:91 | (-45.22, 78.99, -22.25) |
| 2:85628732 | rs375004748 | R>W | A:91 | (-45.22, 78.99, -22.25) |
| 2:85628726 | V>L | A:93 | (-37.98, 74.00, -19.97) | |
| 2:85628717 | R>C | A:96 | (-32.88, 68.92, -9.62) | |
| 2:85628714 | COSM723025 | E>Q | A:97 | (-29.78, 72.92, -11.95) |
| 2:85628704 | rs35899313 | G>D | A:100 | (-21.92, 72.31, -8.55) |
| 2:85628705 | G>S | A:100 | (-21.92, 72.31, -8.55) | |
| 2:85628691 | D>E | A:104 | (-23.52, 73.23, -19.57) | |
| 2:85628692 | D>A | A:104 | (-23.52, 73.23, -19.57) | |
| 2:85628690 | L>F | A:105 | (-28.09, 76.08, -20.21) | |
| 2:85628686 | F>S | A:106 | (-27.50, 77.71, -14.47) | |
| 2:85628684 | M>V | A:107 | (-23.07, 77.87, -15.83) | |
| 2:85628675 | F>L | A:110 | (-24.88, 83.03, -14.42) | |
| 2:85628669 | R>W | A:112 | (-18.48, 85.84, -14.86) | |
| 2:85628666 | G>S | A:113 | (-19.77, 83.47, -12.80) | |
| 2:85628445 | G>D | A:120 | (-23.59, 84.75, 7.15) | |
| 2:85628443 | rs566095029 | V>M | A:121 | (-24.75, 88.27, 6.77) |
| 2:85628389 | L>F | A:138 | (-36.91, 126.96, 27.26) | |
| 2:85628358 | rs111495086 | R>H | A:148 | (-46.55, 124.83, 38.39) |
| 2:85628359 | rs200720697 | R>C | A:148 | (-46.55, 124.83, 38.39) |
| 2:85628355 | A>V | A:149 | (-41.94, 124.35, 34.48) | |
| 2:85628349 | E>V | A:151 | (-41.57, 122.76, 26.81) | |
| 2:85628347 | rs185763147 | R>W | A:152 | (-42.58, 127.71, 26.60) |
| 2:85628340 | rs377002350 | L>Q | A:154 | (-35.10, 127.46, 22.61) |
| 2:85628314 | D>N | A:163 | (-40.27, 135.42, 34.60) | |
| 2:85628310 | COSM1023351 | C>Y | A:164 | (-37.04, 132.65, 35.64) |
| 2:85628311 | rs568415860 | C>G | A:164 | (-37.04, 132.65, 35.64) |
| 2:85628305 | I>V | A:166 | (-34.70, 126.31, 32.96) | |
| 2:85628296 | L>V | A:169 | (-28.66, 123.49, 26.38) | |
| 2:85626387 | G>R | A:179 | (-34.60, 141.49, 36.14) | |
| 2:85626365 | rs201863934 | R>H | A:186 | (-31.52, 133.14, 41.46) |
| 2:85626366 | R>C | A:186 | (-31.52, 133.14, 41.46) | |
| 2:85626362 | N>S | A:187 | (-33.33, 130.23, 44.42) | |
| 2:85626356 | A>V | A:189 | (-34.80, 127.97, 39.15) | |
| 2:85626350 | rs201136347 | D>G | A:191 | (-33.64, 124.43, 42.93) |
| 2:85626338 | rs373962055 | A>V | A:195 | (-33.03, 118.67, 39.30) |
| 2:85626332 | rs368888036 | R>Q | A:197 | (-26.54, 118.80, 37.74) |
| 2:85626333 | rs11539103 | R>W | A:197 | (-26.54, 118.80, 37.74) |
| 2:85626327 | rs147589569 | S>G | A:199 | (-32.25, 113.59, 39.21) |
| 2:85626320 | R>Q | A:201 | (-29.53, 111.61, 34.82) | |
| 2:85626303 | V>M | A:207 | (-25.83, 124.22, 36.70) | |
| 2:85626300 | E>K | A:208 | (-24.08, 128.48, 34.77) | |
| 2:85626294 | rs552947160 | V>I | A:210 | (-27.92, 133.51, 33.91) |
| 2:85626291 | T>P | A:211 | (-28.12, 137.67, 34.74) | |
| 2:85626284 | G>A | A:213 | (-27.58, 140.17, 30.03) | |
| 2:85626260 | Q>R | A:221 | (-25.60, 129.86, 19.80) | |
| 2:85625901 | L>P | A:223 | (-31.39, 132.03, 21.61) | |
| 2:85625892 | rs117284777 | K>R | A:226 | (-30.44, 139.73, 24.08) |
| 2:85625887 | rs200233412 | A>T | A:228 | (-35.71, 143.24, 23.42) |
| 2:85625857 | rs193280469 | L>V | A:238 | (-54.92, 131.85, 30.82) |
| 2:85625847 | D>G | A:241 | (-54.78, 128.13, 26.19) | |
| 2:85625839 | N>H | A:244 | (-54.31, 131.42, 20.66) | |
| 2:85625827 | rs376003215 COSM1729641 |
A>T | A:248 | (-47.84, 124.46, 15.04) |
| 2:85625266 | A>T | A:256 | (-22.78, 120.98, 14.36) | |
| 2:85625259 | G>E | A:258 | (-21.19, 116.19, 17.09) | |
| 2:85625260 | G>R | A:258 | (-21.19, 116.19, 17.09) | |
| 2:85625256 | Q>P | A:259 | (-24.01, 115.34, 19.42) | |
| 2:85625253 | M>K | A:260 | (-28.09, 115.34, 16.37) | |
| 2:85625254 | M>V | A:260 | (-28.09, 115.34, 16.37) | |
| 2:85625240 | rs149753250 | K>N | A:264 | (-39.57, 123.61, 20.35) |
| 2:85625226 | S>N | A:269 | (-48.79, 131.12, 14.38) | |
| 2:85625223 | P>L | A:270 | (-46.86, 133.50, 12.85) | |
| 2:85625202 | I>T | A:277 | (-30.69, 127.87, 9.13) | |
| 2:85625200 | S>T | A:278 | (-29.11, 126.68, 5.22) | |
| 2:85625188 | F>L | A:282 | (-35.43, 123.14, 10.23) | |
| 2:85625175 | rs549418687 | N>S | A:286 | (-49.58, 120.50, 11.11) |
| 2:85625172 | rs114733789 | G>E | A:287 | (-50.04, 116.74, 12.77) |
| 2:85625158 | I>L | A:292 | (-45.31, 116.24, 9.57) | |
| 2:85625150 | rs368826141 | I>M | A:294 | (-38.93, 117.43, 6.44) |
| 2:85625143 | G>W | A:297 | (-30.99, 122.36, 3.55) | |
| 2:85622746 | COSM172221 | R>Q | A:298 | (-29.82, 125.24, -0.46) |
| 2:85622726 | rs370308468 | R>W | A:305 | (-32.13, 114.04, 6.96) |
| 2:85622699 | G>S | A:314 | (-41.86, 110.60, 17.11) | |
| 2:85622689 | S>L | A:317 | (-45.61, 108.41, 18.40) | |
| 2:85622687 | COSM1023349 | R>C | A:318 | (-44.36, 112.16, 22.96) |
| 2:85622683 | rs375904794 | M>T | A:319 | (-47.94, 113.72, 19.85) |
| 2:85622674 | A>V | A:322 | (-52.78, 109.50, 12.34) | |
| 2:85622675 | rs566538644 COSM1409780 |
A>T | A:322 | (-52.78, 109.50, 12.34) |
| 2:85622671 | COSM1247312 COSM1291542 |
P>L | A:323 | (-50.81, 106.47, 11.82) |
| 2:85622078 | E>K | A:328 | (-44.34, 117.18, 2.56) | |
| 2:85622062 | rs377056776 | G>D | A:333 | (-36.86, 126.51, -2.63) |
| 2:85622059 | rs6886 | H>R | A:334 | (-37.05, 122.25, -5.34) |
| 2:85622056 | rs578014741 | E>V | A:335 | (-39.98, 125.79, -0.40) |
| 2:85622051 | P>T | A:337 | (-47.31, 126.43, -1.20) | |
| 2:85622047 | I>T | A:338 | (-49.11, 124.73, 2.58) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:85629046 | COSM3840153 | G>S | A:20 | (-34.89, 87.29, -20.11) |
| 2:85629031 | COSM3001701 | R>W | A:25 | (-33.44, 84.79, -2.10) |
| 2:85628290 | COSM3659996 | Q>K | A:171 | (-23.07, 119.42, 28.32) |
| 2:85622700 | COSM1615174 | E>D | A:313 | (-42.22, 108.75, 12.59) |
| 2:85622055 | COSM1247310 | E>D | A:335 | (-39.98, 125.79, -0.40) |