General Structure Information
| PDB ID | 4gnk |
| HGNC Gene Label(s) | PLCB3 |
| Structure Name | crystal structure of galphaq in complex with full-length human plcbeta3 |
| Resolution | 4.0Å |
| Reference | AUTH A.M.LYON,S.DUTTA,C.A.BOGUTH,G.SKINIOTIS,J.J.TESMERTITL FULL-LENGTH G ALPHA (Q)-PHOSPHOLIPASE C-BETA 3 STRUCTURETITL 2 REVEALS INTERFACES OF THE C-TERMINAL COILED-COIL DOMAIN.REF NAT.STRUCT.MOL.BIOL. V. 20 355 2013REFN ISSN 1545-9993PMID 23377541DOI 10.1038/NSMB.2497 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 769 |
| Number Of SNVs | 136 |
| Number Of Permutations | 84329 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.064 |
| p-value | 0.014 |
COSMIC
| Number Of Residues | 769 |
| Number Of SNVs | 13 |
| Number Of Permutations | 15213 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.038 |
| p-value | 0.949 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 136 |
| Number Of COSMIC SNVs | 12 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.037 |
| p-value | 0.358 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:64019218 | rs189178959 | E>Q | B:33 | (-52.69, -2.67, -2.31) |
| 11:64021890 | T>A | B:35 | (-47.88, -7.60, -0.33) | |
| 11:64021899 | R>W | B:38 | (-47.09, -1.09, 5.98) | |
| 11:64021918 | COSM930043 | R>H | B:44 | (-29.94, 7.24, -2.51) |
| 11:64021930 | rs111961110 | N>S | B:48 | (-24.40, 10.13, -14.71) |
| 11:64021951 | T>M | B:55 | (-32.28, -0.33, 0.88) | |
| 11:64021960 | N>S | B:58 | (-34.63, -8.48, 1.40) | |
| 11:64022226 | D>N | B:62 | (-34.22, -3.23, -5.24) | |
| 11:64022260 | R>Q | B:73 | (-49.06, 9.76, -12.08) | |
| 11:64022269 | rs371998747 COSM429524 |
R>Q | B:76 | (-55.33, 16.16, -8.02) |
| 11:64022271 | Y>N | B:77 | (-53.84, 14.44, -11.17) | |
| 11:64022283 | rs369122916 | P>T | B:81 | (-54.95, 3.77, -1.18) |
| 11:64022373 | P>S | B:84 | (-59.44, -0.55, 4.09) | |
| 11:64022382 | rs201041817 | R>W | B:87 | (-57.44, 4.34, 2.67) |
| 11:64022404 | rs143389743 | G>D | B:94 | (-57.22, 11.51, 10.07) |
| 11:64022409 | D>N | B:96 | (-53.49, 16.26, 8.59) | |
| 11:64022415 | R>W | B:98 | (-49.75, 18.54, 3.55) | |
| 11:64022416 | R>L | B:98 | (-49.75, 18.54, 3.55) | |
| 11:64022437 | rs540937471 COSM1220915 |
T>M | B:105 | (-47.20, 7.43, -8.40) |
| 11:64022490 | V>M | B:123 | (-41.02, 12.53, 5.50) | |
| 11:64022506 | A>V | B:128 | (-42.82, 14.84, -2.98) | |
| 11:64022757 | A>T | B:147 | (-26.98, 8.43, -26.12) | |
| 11:64022769 | T>S | B:151 | (-23.16, 6.60, -21.99) | |
| 11:64022778 | R>C | B:154 | (-20.58, 5.35, -18.75) | |
| 11:64022779 | R>H | B:154 | (-20.58, 5.35, -18.75) | |
| 11:64022785 | rs144191345 | A>V | B:156 | (-23.62, -1.37, -17.15) |
| 11:64022873 | rs199645363 COSM3687470 |
T>M | B:158 | (-24.02, 1.94, -12.68) |
| 11:64022905 | rs138400940 | R>W | B:169 | (-18.26, -7.74, -0.90) |
| 11:64022906 | R>Q | B:169 | (-18.26, -7.74, -0.90) | |
| 11:64023032 | rs376722661 | A>T | B:181 | (-22.72, -15.19, -23.61) |
| 11:64023057 | A>V | B:189 | (-10.93, -11.76, -17.46) | |
| 11:64023196 | E>K | B:201 | (-17.91, -16.28, -5.66) | |
| 11:64023205 | R>W | B:204 | (-13.01, -4.70, -2.30) | |
| 11:64023239 | R>Q | B:215 | (-7.51, -2.18, -18.19) | |
| 11:64023248 | N>S | B:218 | (-10.69, -4.21, -23.83) | |
| 11:64023266 | P>Q | B:224 | (-11.86, -8.25, -34.93) | |
| 11:64023874 | T>M | B:242 | (-1.62, 10.27, -37.52) | |
| 11:64023889 | M>R | B:247 | (-8.48, 15.30, -40.47) | |
| 11:64023891 | rs149333155 | D>N | B:248 | (-8.10, 13.03, -43.74) |
| 11:64023904 | rs61734557 | Q>R | B:252 | (-12.45, 10.98, -46.83) |
| 11:64023907 | K>R | B:253 | (-15.15, 7.77, -45.09) | |
| 11:64023912 | R>C | B:255 | (-18.55, 15.29, -43.93) | |
| 11:64023913 | R>H | B:255 | (-18.55, 15.29, -43.93) | |
| 11:64023943 | P>L | B:265 | (-17.78, 22.78, -41.52) | |
| 11:64023951 | R>W | B:268 | (-11.20, 23.09, -38.81) | |
| 11:64023967 | R>Q | B:273 | (-4.67, 18.91, -30.92) | |
| 11:64024000 | Q>R | B:284 | (3.57, 7.52, -24.04) | |
| 11:64024012 | R>Q | B:288 | (4.44, 10.56, -29.21) | |
| 11:64024107 | G>S | B:295 | (-9.25, 5.38, -28.50) | |
| 11:64024116 | R>C | B:298 | (-12.42, 5.26, -25.56) | |
| 11:64024117 | R>H | B:298 | (-12.42, 5.26, -25.56) | |
| 11:64024132 | E>A | B:303 | (-20.12, 11.77, -26.99) | |
| 11:64024149 | rs554380791 | P>S | B:309 | (-28.16, 14.30, -36.32) |
| 11:64024158 | A>T | B:312 | (-33.27, 15.35, -35.80) | |
| 11:64024164 | D>N | B:314 | (-34.68, 19.36, -31.80) | |
| 11:64024174 | rs372605260 | T>M | B:317 | (-39.67, 21.25, -37.73) |
| 11:64024233 | T>A | B:337 | (-56.27, -2.65, -23.14) | |
| 11:64025969 | S>L | B:346 | (-58.60, 1.65, -19.21) | |
| 11:64025983 | R>C | B:351 | (-53.73, 8.73, -17.53) | |
| 11:64026041 | rs202112716 | P>L | B:370 | (-81.69, 4.06, -15.59) |
| 11:64026043 | P>S | B:371 | (-80.39, 4.36, -12.16) | |
| 11:64026094 | P>A | B:388 | (-66.12, 6.16, -16.66) | |
| 11:64026095 | P>H | B:388 | (-66.12, 6.16, -16.66) | |
| 11:64026103 | D>N | B:391 | (-62.70, 9.09, -14.69) | |
| 11:64026143 | COSM1220914 | S>L | B:404 | (-46.41, 17.70, -26.37) |
| 11:64026145 | COSM544305 | P>A | B:405 | (-46.42, 21.43, -26.17) |
| 11:64026152 | P>L | B:407 | (-52.34, 20.58, -30.71) | |
| 11:64026154 | rs145872781 | V>I | B:408 | (-55.09, 17.38, -28.60) |
| 11:64026169 | E>K | B:413 | (-67.58, 7.19, -32.03) | |
| 11:64026176 | H>R | B:415 | (-73.07, 6.17, -30.12) | |
| 11:64026184 | S>P | B:418 | (-79.99, 12.33, -24.56) | |
| 11:64026185 | rs371015701 | S>L | B:418 | (-79.99, 12.33, -24.56) |
| 11:64026370 | A>T | B:423 | (-75.46, 18.39, -22.04) | |
| 11:64026371 | A>E | B:423 | (-75.46, 18.39, -22.04) | |
| 11:64026391 | rs141811797 | R>C | B:430 | (-67.66, 24.30, -21.63) |
| 11:64026392 | R>H | B:430 | (-67.66, 24.30, -21.63) | |
| 11:64026397 | rs576970524 | I>V | B:432 | (-62.48, 18.90, -16.96) |
| 11:64026404 | rs201844304 | G>E | B:434 | (-61.42, 24.91, -19.95) |
| 11:64026406 | D>N | B:435 | (-59.00, 28.03, -20.56) | |
| 11:64026421 | E>K | B:440 | (-65.35, 30.81, -29.70) | |
| 11:64026430 | D>N | B:443 | (-60.00, 36.56, -34.18) | |
| 11:64026439 | P>S | B:446 | (-61.83, 32.57, -40.04) | |
| 11:64026534 | A>V | B:448 | (-64.30, 30.36, -44.24) | |
| 11:64026542 | V>I | B:451 | (-59.89, 30.14, -44.49) | |
| 11:64026561 | Q>R | B:457 | (-47.11, 27.81, -33.05) | |
| 11:64026572 | G>C | B:461 | (-52.70, 23.96, -25.62) | |
| 11:64026575 | R>C | B:462 | (-56.28, 25.52, -27.15) | |
| 11:64028899 | T>A | B:587 | (-77.17, 18.04, -30.02) | |
| 11:64028915 | T>K | B:592 | (-70.69, 24.93, -29.59) | |
| 11:64028921 | V>D | B:594 | (-67.36, 21.78, -33.25) | |
| 11:64028929 | I>V | B:597 | (-61.88, 19.20, -36.51) | |
| 11:64028947 | rs143280611 | K>E | B:603 | (-70.33, 13.49, -51.54) |
| 11:64028954 | F>Y | B:605 | (-61.47, 13.40, -53.66) | |
| 11:64028966 | R>Q | B:609 | (-60.89, 20.05, -54.90) | |
| 11:64029056 | R>K | B:611 | (-68.01, 22.71, -49.68) | |
| 11:64029060 | N>K | B:612 | (-62.78, 26.11, -50.93) | |
| 11:64029091 | T>P | B:623 | (-61.27, -0.83, -46.96) | |
| 11:64029100 | M>V | B:626 | (-56.72, 0.92, -49.92) | |
| 11:64029101 | M>T | B:626 | (-56.72, 0.92, -49.92) | |
| 11:64029125 | M>T | B:634 | (-52.92, 12.22, -58.34) | |
| 11:64029137 | E>A | B:638 | (-54.32, 17.87, -55.15) | |
| 11:64029434 | Q>K | B:642 | (-56.83, 21.99, -49.39) | |
| 11:64029468 | COSM930054 | R>H | B:653 | (-57.41, -5.48, -38.44) |
| 11:64029470 | V>M | B:654 | (-60.99, -8.91, -33.91) | |
| 11:64029490 | M>I | B:660 | (-48.28, -0.23, -42.97) | |
| 11:64029496 | rs540587716 | Q>H | B:662 | (-45.78, 4.65, -45.18) |
| 11:64029545 | L>F | B:679 | (-46.27, -2.99, -30.13) | |
| 11:64029881 | rs527496239 | V>M | B:681 | (-44.12, -3.93, -37.92) |
| 11:64029900 | rs369907605 | A>V | B:687 | (-43.07, 4.92, -32.61) |
| 11:64029905 | COSM3375899 | V>I | B:689 | (-41.42, 8.10, -36.82) |
| 11:64029920 | G>R | B:694 | (-39.49, 16.25, -30.07) | |
| 11:64029923 | COSM3687472 | R>C | B:695 | (-40.20, 12.68, -27.79) |
| 11:64029924 | R>H | B:695 | (-40.20, 12.68, -27.79) | |
| 11:64029956 | COSM1676138 | R>W | B:706 | (-46.19, 21.26, -47.74) |
| 11:64029962 | P>S | B:708 | (-50.28, 24.37, -54.05) | |
| 11:64029963 | rs377220651 | P>L | B:708 | (-50.28, 24.37, -54.05) |
| 11:64029980 | P>A | B:714 | (-47.54, 8.63, -55.42) | |
| 11:64029990 | E>G | B:717 | (-41.72, 3.51, -61.82) | |
| 11:64029997 | rs145953984 | I>M | B:719 | (-36.26, 10.85, -61.04) |
| 11:64029998 | V>M | B:720 | (-39.38, 13.75, -59.35) | |
| 11:64030007 | I>V | B:723 | (-37.59, 15.70, -55.59) | |
| 11:64030025 | R>W | B:729 | (-23.83, 1.19, -50.05) | |
| 11:64030119 | rs370898239 | V>M | B:732 | (-23.91, -5.19, -41.32) |
| 11:64030143 | D>N | B:740 | (-29.24, -12.85, -21.66) | |
| 11:64030147 | R>K | B:741 | (-30.25, -16.91, -24.80) | |
| 11:64030159 | I>T | B:745 | (-27.85, -13.17, -33.88) | |
| 11:64030198 | T>M | B:758 | (-40.62, 0.04, -50.31) | |
| 11:64030203 | rs201470515 | R>C | B:760 | (-40.56, -5.27, -45.90) |
| 11:64030212 | R>C | B:763 | (-31.74, -12.44, -43.56) | |
| 11:64030237 | S>L | B:771 | (-24.26, -13.59, -28.44) | |
| 11:64030257 | E>K | B:778 | (-22.75, -9.82, -45.20) | |
| 11:64030269 | D>N | B:782 | (-27.40, -1.56, -52.22) | |
| 11:64031019 | G>A | B:802 | (-36.57, -18.19, -34.52) | |
| 11:64031030 | rs145502455 | V>I | B:806 | (-33.30, -8.54, -29.79) |
| 11:64031055 | S>F | B:814 | (-33.05, 12.40, -44.49) | |
| 11:64031057 | A>P | B:815 | (-30.39, 12.43, -41.46) | |
| 11:64031063 | rs199676501 | R>C | B:817 | (-24.39, 11.51, -39.16) |
| 11:64031174 | rs372712260 | V>I | B:823 | (-27.00, 1.38, -34.00) |
| 11:64031202 | P>L | B:832 | (-33.61, 2.77, -24.27) | |
| 11:64031241 | rs35169799 | S>L | B:845 | (-25.66, 9.76, -51.78) |
| 11:64031249 | rs200176343 | I>V | B:848 | (-25.66, 10.64, -59.94) |
| 11:64031258 | rs369369040 COSM2163262 |
D>N | B:851 | (-26.66, 7.64, -68.46) |
| 11:64031267 | D>H | B:854 | (-18.95, 11.77, -66.83) | |
| 11:64031499 | COSM930058 | A>V | B:856 | (-21.90, 15.43, -62.67) |
| 11:64031528 | V>I | B:866 | (-12.32, 23.26, -69.14) | |
| 11:64031550 | A>V | B:873 | (-8.41, 20.64, -78.84) | |
| 11:64031552 | R>G | B:874 | (-4.58, 23.38, -76.82) | |
| 11:64031553 | R>Q | B:874 | (-4.58, 23.38, -76.82) | |
| 11:64031571 | rs200263631 | I>T | B:880 | (-6.79, 19.50, -88.57) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:64021917 | COSM1241586 | R>C | B:44 | (-29.94, 7.24, -2.51) |
| 11:64022437 | COSM1220915 | T>M | B:105 | (-47.20, 7.43, -8.40) |
| 11:64023238 | COSM317885 | R>W | B:215 | (-7.51, -2.18, -18.19) |
| 11:64024111 | COSM1676137 | F>C | B:296 | (-10.67, 4.36, -33.42) |
| 11:64026008 | COSM930050 | R>H | B:359 | (-51.14, 14.83, -29.32) |
| 11:64026040 | COSM4035078 | P>S | B:370 | (-81.69, 4.06, -15.59) |
| 11:64026143 | COSM1220914 | S>L | B:404 | (-46.41, 17.70, -26.37) |
| 11:64026164 | COSM3451396 | S>F | B:411 | (-62.48, 11.47, -31.80) |
| 11:64029923 | COSM3687472 | R>C | B:695 | (-40.20, 12.68, -27.79) |
| 11:64029959 | COSM1355656 | R>W | B:707 | (-45.64, 23.69, -53.04) |
| 11:64030200 | COSM1676139 | R>W | B:759 | (-36.23, -2.07, -51.68) |
| 11:64031166 | COSM1604954 | Y>F | B:820 | (-17.07, 2.73, -40.46) |
| 11:64031499 | COSM930058 | A>V | B:856 | (-21.90, 15.43, -62.67) |