General Structure Information
| PDB ID | 4igg |
| HGNC Gene Label(s) | CTNNA1 |
| Structure Name | full-length human alpha-catenin crystal structure |
| Resolution | 3.66Å |
| Reference | AUTH E.S.RANGARAJAN,T.IZARDTITL DIMER ASYMMETRY DEFINES ALPHA-CATENIN INTERACTIONS.REF NAT.STRUCT.MOL.BIOL. V. 20 188 2013REFN ISSN 1545-9993PMID 23292143DOI 10.1038/NSMB.2479 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 750 |
| Number Of SNVs | 129 |
| Number Of Permutations | 39933 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.022 |
| p-value | 0.333 |
COSMIC
| Number Of Residues | 750 |
| Number Of SNVs | 14 |
| Number Of Permutations | 4791 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.198 |
| p-value | 0.069 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 129 |
| Number Of COSMIC SNVs | 12 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.023 |
| p-value | 0.37 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:138119008 | S>N | A:83 | (33.82, -46.24, -32.21) | |
| 5:138119019 | K>E | A:87 | (33.69, -41.78, -37.80) | |
| 5:138119025 | E>K | A:89 | (27.95, -37.83, -33.59) | |
| 5:138119028 | L>F | A:90 | (33.14, -36.29, -35.56) | |
| 5:138119035 | A>V | A:92 | (27.97, -33.81, -38.17) | |
| 5:138119047 | D>G | A:96 | (27.27, -27.85, -37.54) | |
| 5:138119052 | COSM1241051 | R>G | A:98 | (30.39, -26.21, -43.56) |
| 5:138119053 | COSM1433413 | R>Q | A:98 | (30.39, -26.21, -43.56) |
| 5:138119059 | Q>R | A:100 | (27.81, -21.77, -37.92) | |
| 5:138145730 | D>G | A:102 | (30.00, -20.12, -44.03) | |
| 5:138145756 | F>L | A:111 | (33.18, -5.42, -38.63) | |
| 5:138145759 | A>T | A:112 | (35.42, -4.99, -42.38) | |
| 5:138145763 | D>G | A:113 | (33.59, -3.57, -45.34) | |
| 5:138145764 | D>E | A:113 | (33.59, -3.57, -45.34) | |
| 5:138145772 | C>Y | A:116 | (32.19, 2.14, -37.27) | |
| 5:138145775 | S>C | A:117 | (28.77, -0.69, -37.38) | |
| 5:138145787 | R>Q | A:121 | (30.65, -5.05, -32.72) | |
| 5:138145795 | M>V | A:124 | (31.12, -10.30, -35.44) | |
| 5:138145802 | rs371054484 | R>Q | A:126 | (24.64, -13.28, -32.74) |
| 5:138145828 | V>I | A:135 | (34.40, -25.46, -32.40) | |
| 5:138145834 | R>W | A:137 | (29.55, -31.16, -29.24) | |
| 5:138145835 | rs374142395 | R>Q | A:137 | (29.55, -31.16, -29.24) |
| 5:138145848 | rs377601723 | L>F | A:141 | (32.75, -35.53, -30.03) |
| 5:138145849 | A>T | A:142 | (37.13, -35.68, -30.44) | |
| 5:138145855 | M>V | A:144 | (34.63, -38.70, -26.06) | |
| 5:138145888 | K>E | A:155 | (41.95, -54.78, -21.96) | |
| 5:138147879 | rs533573408 | D>G | A:159 | (45.21, -58.83, -21.92) |
| 5:138147906 | rs139770883 | G>D | A:168 | (56.26, -71.32, -20.43) |
| 5:138147908 | N>D | A:169 | (57.87, -71.54, -23.22) | |
| 5:138147914 | Q>E | A:171 | (59.17, -69.86, -27.91) | |
| 5:138147939 | rs28363394 | A>V | A:179 | (53.97, -58.02, -29.31) |
| 5:138147966 | N>S | A:188 | (53.36, -43.87, -23.50) | |
| 5:138160240 | R>C | A:204 | (48.18, -32.78, -15.34) | |
| 5:138160244 | D>V | A:205 | (50.96, -35.99, -11.25) | |
| 5:138160248 | rs150893072 | Q>H | A:206 | (47.55, -39.89, -11.00) |
| 5:138160267 | rs201391408 | I>V | A:213 | (55.59, -47.77, -13.09) |
| 5:138160271 | L>P | A:214 | (53.78, -49.23, -17.79) | |
| 5:138160282 | V>I | A:218 | (57.34, -54.11, -19.39) | |
| 5:138160285 | rs28363406 | P>S | A:219 | (61.16, -54.52, -19.18) |
| 5:138160286 | rs369265386 | P>L | A:219 | (61.16, -54.52, -19.18) |
| 5:138160328 | D>G | A:233 | (62.13, -75.25, -7.85) | |
| 5:138160330 | rs570687363 | V>I | A:234 | (63.31, -70.30, -6.95) |
| 5:138160333 | rs548392885 | A>T | A:235 | (59.91, -69.10, -4.77) |
| 5:138160337 | A>V | A:236 | (61.76, -66.06, -4.87) | |
| 5:138160340 | Y>C | A:237 | (63.79, -66.21, -8.76) | |
| 5:138160342 | K>E | A:238 | (56.34, -67.43, -8.70) | |
| 5:138160343 | K>T | A:238 | (56.34, -67.43, -8.70) | |
| 5:138160349 | N>T | A:240 | (59.96, -60.66, -7.89) | |
| 5:138160354 | D>N | A:242 | (53.82, -62.45, -9.25) | |
| 5:138160358 | L>Q | A:243 | (55.89, -57.58, -7.14) | |
| 5:138160360 | rs371337206 | I>L | A:244 | (56.88, -56.97, -11.20) |
| 5:138160363 | Y>H | A:245 | (50.85, -58.82, -13.06) | |
| 5:138160366 | K>Q | A:246 | (50.02, -56.84, -7.95) | |
| 5:138160379 | rs200873942 | Q>R | A:250 | (48.66, -50.67, -9.28) |
| 5:138160381 | A>T | A:251 | (49.56, -48.77, -13.56) | |
| 5:138160382 | A>V | A:251 | (49.56, -48.77, -13.56) | |
| 5:138160388 | T>K | A:253 | (44.38, -49.26, -13.19) | |
| 5:138160418 | A>D | A:263 | (37.00, -31.35, -13.88) | |
| 5:138160438 | rs199867969 | H>Y | A:270 | (40.25, -29.13, -9.20) |
| 5:138160448 | G>A | A:273 | (48.28, -25.25, -11.39) | |
| 5:138160454 | G>E | A:275 | (52.43, -27.40, -7.50) | |
| 5:138160478 | N>S | A:283 | (49.79, -18.38, -3.00) | |
| 5:138163210 | rs377651419 | I>V | A:289 | (43.47, -11.23, 2.10) |
| 5:138163243 | R>C | A:300 | (30.28, -16.57, -0.40) | |
| 5:138163244 | rs369518072 | R>H | A:300 | (30.28, -16.57, -0.40) |
| 5:138163267 | rs202131041 | R>C | A:308 | (41.79, -21.68, 0.96) |
| 5:138163268 | rs376445678 COSM50770 |
R>H | A:308 | (41.79, -21.68, 0.96) |
| 5:138163277 | S>T | A:311 | (43.36, -26.41, 4.27) | |
| 5:138163285 | rs200854132 | S>G | A:314 | (45.76, -29.47, 7.38) |
| 5:138163331 | rs373717420 | R>H | A:329 | (61.79, -25.87, 12.45) |
| 5:138163334 | rs376523339 | R>H | A:330 | (57.26, -30.75, 15.89) |
| 5:138163391 | rs201056930 COSM3609063 |
S>L | A:349 | (36.85, -7.95, 13.70) |
| 5:138163402 | G>R | A:353 | (32.72, -4.01, 11.79) | |
| 5:138163406 | N>S | A:354 | (32.50, -3.41, 7.64) | |
| 5:138221907 | COSM3409765 | R>C | A:357 | (31.30, 2.16, 5.95) |
| 5:138221908 | rs192686066 | R>H | A:357 | (31.30, 2.16, 5.95) |
| 5:138221951 | M>I | A:371 | (47.16, -11.98, 7.62) | |
| 5:138221973 | R>C | A:379 | (56.41, -20.44, 2.09) | |
| 5:138221974 | COSM1061460 | R>H | A:379 | (56.41, -20.44, 2.09) |
| 5:138223183 | COSM172964 | R>H | A:383 | (61.25, -21.93, 2.83) |
| 5:138223203 | V>I | A:390 | (67.13, -32.22, 2.47) | |
| 5:138223221 | E>K | A:396 | (73.89, -42.61, 5.58) | |
| 5:138223227 | N>D | A:398 | (74.02, -46.57, 0.02) | |
| 5:138223228 | rs200549409 | N>S | A:398 | (74.02, -46.57, 0.02) |
| 5:138223230 | V>I | A:399 | (74.09, -47.75, 4.33) | |
| 5:138223242 | V>I | A:403 | (73.73, -54.00, 5.49) | |
| 5:138223253 | rs143830504 | E>D | A:406 | (77.21, -58.65, 3.33) |
| 5:138223305 | rs531171999 | R>C | A:424 | (60.13, -51.41, 2.80) |
| 5:138223312 | H>R | A:426 | (66.07, -44.83, 4.10) | |
| 5:138223317 | N>D | A:428 | (59.19, -45.04, 3.09) | |
| 5:138223326 | I>V | A:431 | (59.31, -41.26, -0.53) | |
| 5:138240042 | A>D | A:434 | (59.96, -35.53, -1.54) | |
| 5:138240045 | N>S | A:435 | (56.10, -36.09, -1.31) | |
| 5:138240051 | rs138782455 | A>V | A:437 | (59.04, -30.57, -1.10) |
| 5:138240059 | rs368676572 | I>V | A:440 | (56.42, -25.99, -0.34) |
| 5:138240080 | V>I | A:447 | (56.77, -31.21, -8.50) | |
| 5:138240087 | L>R | A:449 | (60.72, -34.69, -12.45) | |
| 5:138240093 | R>Q | A:451 | (54.82, -35.61, -7.12) | |
| 5:138240095 | rs372832887 | M>L | A:452 | (58.01, -39.25, -12.24) |
| 5:138240097 | COSM3720275 | M>I | A:452 | (58.01, -39.25, -12.24) |
| 5:138253434 | I>V | A:465 | (63.33, -56.78, -0.85) | |
| 5:138253435 | I>S | A:465 | (63.33, -56.78, -0.85) | |
| 5:138253437 | N>D | A:466 | (62.31, -59.81, -3.51) | |
| 5:138253491 | M>V | A:484 | (71.45, -57.78, -5.79) | |
| 5:138253510 | Q>L | A:490 | (68.16, -49.85, -10.96) | |
| 5:138253527 | R>C | A:496 | (72.68, -39.08, -7.31) | |
| 5:138253528 | R>H | A:496 | (72.68, -39.08, -7.31) | |
| 5:138253539 | D>N | A:500 | (69.57, -34.48, -8.11) | |
| 5:138253543 | A>V | A:501 | (64.92, -33.42, -8.01) | |
| 5:138253557 | T>A | A:506 | (65.21, -26.76, -3.15) | |
| 5:138260229 | C>S | A:526 | (82.53, -33.92, 17.73) | |
| 5:138260251 | K>N | A:533 | (87.06, -39.08, 26.61) | |
| 5:138260256 | V>A | A:535 | (84.59, -43.46, 20.51) | |
| 5:138260267 | rs547329141 | D>H | A:539 | (82.77, -42.46, 14.44) |
| 5:138260271 | rs139655691 | R>H | A:540 | (77.22, -40.79, 16.29) |
| 5:138260295 | rs143060269 | R>Q | A:548 | (75.42, -32.59, 6.73) |
| 5:138260312 | H>Y | A:554 | (76.37, -33.14, -5.23) | |
| 5:138260315 | rs201877485 | V>I | A:555 | (74.52, -29.35, -4.10) |
| 5:138260330 | M>L | A:560 | (78.18, -23.94, -10.32) | |
| 5:138260336 | N>H | A:562 | (73.56, -23.84, -14.40) | |
| 5:138260337 | N>S | A:562 | (73.56, -23.84, -14.40) | |
| 5:138260364 | K>R | A:571 | (85.46, -17.14, -5.61) | |
| 5:138260394 | rs139134468 | N>S | A:581 | (91.00, -31.96, -1.85) |
| 5:138260968 | rs540697892 | V>I | A:591 | (88.46, -38.34, 13.87) |
| 5:138260972 | E>A | A:592 | (91.09, -41.64, 11.77) | |
| 5:138260992 | S>R | A:599 | (90.70, -46.99, 21.63) | |
| 5:138260996 | S>L | A:600 | (94.23, -47.31, 23.71) | |
| 5:138261001 | rs543603775 | P>S | A:602 | (92.83, -43.41, 29.07) |
| 5:138261007 | Q>K | A:604 | (95.35, -35.74, 27.09) | |
| 5:138261008 | Q>L | A:604 | (95.35, -35.74, 27.09) | |
| 5:138261038 | A>V | A:614 | (89.90, -29.21, 12.14) | |
| 5:138261043 | R>C | A:616 | (87.67, -23.69, 13.25) | |
| 5:138261044 | R>H | A:616 | (87.67, -23.69, 13.25) | |
| 5:138261065 | R>Q | A:623 | (79.91, -18.77, 6.63) | |
| 5:138264938 | P>S | A:635 | (70.14, -14.20, -13.78) | |
| 5:138266163 | A>V | A:671 | (42.64, 3.08, -20.95) | |
| 5:138266184 | COSM1433434 | Q>P | A:678 | (36.88, 11.53, -10.09) |
| 5:138266205 | rs369619831 | A>E | A:685 | (45.68, 10.53, -5.92) |
| 5:138266213 | V>M | A:688 | (50.17, 8.30, -5.73) | |
| 5:138266566 | K>T | A:747 | (58.43, -10.79, -11.96) | |
| 5:138266581 | A>V | A:752 | (66.03, -6.30, -7.95) | |
| 5:138268312 | R>C | A:782 | (59.60, -4.42, 5.71) | |
| 5:138269549 | Q>R | A:831 | (64.16, 1.65, 6.38) | |
| 5:138269550 | Q>H | A:831 | (64.16, 1.65, 6.38) | |
| 5:138269561 | rs377477287 | A>V | A:835 | (71.08, 0.32, 7.21) |
| 5:138269579 | T>N | A:841 | (82.04, 1.65, 3.15) | |
| 5:138269602 | M>V | A:849 | (86.21, -3.56, -3.44) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:138160295 | COSM3661435 | Y>C | A:222 | (61.58, -60.91, -20.75) |
| 5:138221907 | COSM3409765 | R>C | A:357 | (31.30, 2.16, 5.95) |
| 5:138221974 | COSM1061460 | R>H | A:379 | (56.41, -20.44, 2.09) |
| 5:138240119 | COSM1721769 | L>F | A:460 | (62.99, -50.30, -7.30) |
| 5:138260276 | COSM3714989 | A>S | A:542 | (82.06, -37.56, 11.91) |
| 5:138260289 | COSM4675358 | R>Q | A:546 | (82.67, -38.03, 6.94) |
| 5:138266328 | COSM1642611 | M>T | A:726 | (53.88, 0.06, -11.26) |
| 5:138266343 | COSM1061468 | R>Q | A:731 | (48.45, 8.99, -13.32) |
| 5:138266614 | COSM3661437 | I>T | A:763 | (76.91, -5.88, 3.54) |
| 5:138268277 | COSM310390 | S>L | A:770 | (73.52, -6.94, 16.61) |
| 5:138268313 | COSM204814 | R>H | A:782 | (59.60, -4.42, 5.71) |
| 5:138268318 | COSM735524 | A>T | A:784 | (60.31, -9.89, 0.02) |
| 5:138268321 | COSM3730941 | L>I | A:785 | (56.26, -9.09, 1.97) |
| 5:138268361 | COSM1292024 | A>D | A:798 | (45.75, -12.14, -15.23) |
| 5:138269495 | COSM216691 | D>G | A:813 | (39.72, -3.57, -5.73) |