General Structure Information
| PDB ID | 1n11 |
| HGNC Gene Label(s) | ANK1 |
| Structure Name | d34 region of human ankyrin-r and linker |
| Resolution | 2.7Å |
| Reference | AUTH P.MICHAELY,D.R.TOMCHICK,M.MACHIUS,R.G.W.ANDERSONTITL CRYSTAL STRUCTURE OF A 12 ANK REPEAT STACK FROMTITL 2 HUMAN ANKYRINRREF EMBO J. V. 21 6387 2002REFN ISSN 0261-4189PMID 12456646DOI 10.1093/EMBOJ/CDF651 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 404 |
| Number Of SNVs | 107 |
| Number Of Permutations | 67935 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.28 |
| p-value | 0.094 |
COSMIC
| Number Of Residues | 404 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1808 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.5 |
| p-value | 0.097 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 8:41575162 | N>I | A:422 | (34.96, 84.95, -45.04) | |
| 8:41575141 | S>L | A:429 | (31.74, 74.97, -39.10) | |
| 8:41575129 | S>F | A:433 | (34.82, 69.19, -32.12) | |
| 8:41574556 | rs201135032 | P>L | A:440 | (32.06, 79.77, -31.61) |
| 8:41574548 | M>V | A:443 | (33.25, 82.54, -27.44) | |
| 8:41574538 | rs142010751 | R>T | A:446 | (32.05, 85.01, -22.90) |
| 8:41574535 | A>G | A:447 | (30.83, 89.26, -25.76) | |
| 8:41574533 | rs375056306 | G>R | A:448 | (27.66, 90.13, -26.94) |
| 8:41574526 | rs193232101 | T>M | A:450 | (24.41, 90.05, -31.26) |
| 8:41574488 | rs140085544 | V>I | A:463 | (21.88, 76.70, -29.22) |
| 8:41574484 | N>S | A:464 | (21.46, 73.49, -26.80) | |
| 8:41574476 | COSM1700040 COSM1700039 |
A>P | A:467 | (30.87, 72.93, -22.20) |
| 8:41573358 | rs564056644 | T>A | A:472 | (24.67, 76.62, -22.34) |
| 8:41573352 | L>I | A:474 | (21.42, 80.69, -22.47) | |
| 8:41573336 | R>L | A:479 | (27.32, 84.33, -16.05) | |
| 8:41573334 | rs544269725 COSM422124 COSM1133831 |
I>V | A:480 | (26.76, 89.17, -19.05) |
| 8:41573331 | rs201980785 | G>S | A:481 | (23.06, 90.61, -18.88) |
| 8:41573319 | M>V | A:485 | (22.68, 87.30, -26.63) | |
| 8:41573310 | L>V | A:488 | (18.67, 85.57, -30.12) | |
| 8:41573292 | rs190256257 | A>T | A:494 | (17.56, 77.72, -26.01) |
| 8:41573288 | rs142690258 | N>S | A:495 | (16.87, 74.35, -22.89) |
| 8:41573289 | rs143839208 | N>H | A:495 | (16.87, 74.35, -22.89) |
| 8:41573286 | rs138685137 | P>S | A:496 | (15.92, 77.15, -20.47) |
| 8:41573264 | rs377644428 | G>A | A:503 | (22.59, 72.90, -11.57) |
| 8:41573265 | G>R | A:503 | (22.59, 72.90, -11.57) | |
| 8:41573255 | P>L | A:506 | (20.11, 80.09, -17.10) | |
| 8:41573256 | COSM3951678 COSM3951677 |
P>A | A:506 | (20.11, 80.09, -17.10) |
| 8:41573237 | rs371259018 COSM1457106 COSM1457105 |
R>H | A:512 | (25.13, 85.21, -7.81) |
| 8:41573231 | G>D | A:514 | (20.07, 90.75, -10.87) | |
| 8:41573210 | rs368231311 COSM387891 COSM1700038 |
A>D | A:521 | (13.03, 86.69, -20.49) |
| 8:41573208 | rs375850314 COSM3649258 COSM3649257 |
L>F | A:522 | (14.63, 83.32, -18.89) |
| 8:41573192 | A>V | A:527 | (11.96, 79.05, -17.42) | |
| 8:41573176 | M>I | A:532 | (17.23, 72.46, -7.30) | |
| 8:41572582 | rs541654069 | T>I | A:538 | (15.76, 77.78, -6.00) |
| 8:41572567 | rs369233964 | A>V | A:543 | (17.58, 85.75, -4.47) |
| 8:41572561 | K>R | A:545 | (22.89, 83.98, -0.83) | |
| 8:41572555 | G>E | A:547 | (19.40, 90.27, -2.10) | |
| 8:41572556 | G>R | A:547 | (19.40, 90.27, -2.10) | |
| 8:41572546 | rs140347875 | R>Q | A:550 | (14.86, 92.93, -7.81) |
| 8:41572547 | rs572677389 | R>W | A:550 | (14.86, 92.93, -7.81) |
| 8:41572541 | A>S | A:552 | (11.86, 88.03, -5.72) | |
| 8:41572522 | rs577967149 | R>Q | A:558 | (5.67, 85.05, -13.24) |
| 8:41572523 | rs180968218 | R>W | A:558 | (5.67, 85.05, -13.24) |
| 8:41572513 | H>R | A:561 | (7.79, 76.29, -3.44) | |
| 8:41572514 | H>Y | A:561 | (7.79, 76.29, -3.44) | |
| 8:41572510 | P>L | A:562 | (7.15, 79.66, -1.41) | |
| 8:41572499 | COSM3834727 COSM3834726 |
G>R | A:566 | (16.27, 70.20, -0.26) |
| 8:41571741 | H>R | A:578 | (22.19, 82.98, 7.24) | |
| 8:41571730 | L>V | A:582 | (13.56, 92.45, 6.21) | |
| 8:41571724 | I>V | A:584 | (13.32, 88.90, 0.78) | |
| 8:41571721 | V>I | A:585 | (11.35, 88.06, 5.05) | |
| 8:41571708 | L>P | A:589 | (5.84, 85.70, 5.28) | |
| 8:41571705 | COSM338075 | P>L | A:590 | (3.01, 87.19, 2.38) |
| 8:41571702 | rs201459848 | R>Q | A:591 | (4.27, 86.32, -1.94) |
| 8:41571699 | COSM605693 COSM1145066 |
G>V | A:592 | (4.03, 81.43, 2.31) |
| 8:41571697 | G>S | A:593 | (6.43, 81.36, 3.95) | |
| 8:41571693 | S>C | A:594 | (6.91, 78.69, 6.57) | |
| 8:41571690 | rs375429085 | P>L | A:595 | (7.41, 80.20, 9.73) |
| 8:41571681 | P>R | A:598 | (12.09, 72.08, 9.25) | |
| 8:41571682 | P>S | A:598 | (12.09, 72.08, 9.25) | |
| 8:41566491 | N>K | A:601 | (19.02, 71.38, 12.49) | |
| 8:41566483 | T>N | A:604 | (13.17, 77.47, 12.78) | |
| 8:41566469 | rs564238506 COSM87958 COSM3413026 |
A>T | A:609 | (17.15, 85.55, 14.06) |
| 8:41566466 | A>S | A:610 | (17.68, 84.70, 17.37) | |
| 8:41566456 | N>S | A:613 | (20.29, 90.12, 17.54) | |
| 8:41566451 | rs374808045 | V>M | A:615 | (14.58, 92.18, 16.62) |
| 8:41566447 | rs372122833 | E>V | A:616 | (12.84, 93.99, 12.25) |
| 8:41566438 | rs2304877 | R>H | A:619 | (9.15, 92.17, 16.57) |
| 8:41566439 | R>C | A:619 | (9.15, 92.17, 16.57) | |
| 8:41566435 | S>N | A:620 | (7.89, 89.34, 11.38) | |
| 8:41566429 | L>P | A:622 | (6.91, 85.93, 16.12) | |
| 8:41566406 | A>T | A:630 | (11.05, 75.36, 18.27) | |
| 8:41566399 | S>L | A:632 | (16.46, 71.39, 17.72) | |
| 8:41566384 | COSM1099878 COSM1597702 |
T>M | A:637 | (14.84, 76.98, 21.82) |
| 8:41566382 | rs35681783 | P>T | A:638 | (14.83, 80.10, 19.65) |
| 8:41566376 | COSM364780 | H>Y | A:640 | (17.88, 77.70, 24.46) |
| 8:41566370 | rs572850860 | A>T | A:642 | (19.46, 84.29, 22.27) |
| 8:41566367 | A>T | A:643 | (20.68, 83.60, 25.50) | |
| 8:41566357 | G>V | A:646 | (23.46, 87.82, 24.85) | |
| 8:41566353 | H>Q | A:647 | (21.67, 88.51, 21.57) | |
| 8:41566327 | S>L | A:656 | (6.76, 88.47, 25.05) | |
| 8:41566315 | N>S | A:660 | (9.19, 77.85, 28.12) | |
| 8:41566307 | L>V | A:663 | (12.24, 74.30, 27.43) | |
| 8:41563759 | S>G | A:667 | (20.53, 67.47, 28.41) | |
| 8:41563756 | rs182432615 | G>R | A:668 | (18.71, 70.19, 30.48) |
| 8:41563722 | COSM1457101 COSM1457100 |
G>A | A:679 | (28.10, 85.38, 31.00) |
| 8:41563717 | COSM605695 COSM1145064 |
V>I | A:681 | (24.36, 89.68, 33.79) |
| 8:41563711 | V>L | A:683 | (20.12, 87.64, 29.71) | |
| 8:41563687 | rs549988759 | G>S | A:691 | (10.76, 83.51, 36.36) |
| 8:41563684 | rs561437854 COSM3900210 COSM3900209 |
V>I | A:692 | (13.33, 81.44, 35.26) |
| 8:41563681 | rs541679080 | M>V | A:693 | (13.76, 77.44, 37.63) |
| 8:41563672 | A>T | A:696 | (17.60, 74.67, 37.11) | |
| 8:41563662 | rs150032875 | R>Q | A:699 | (19.44, 64.32, 31.88) |
| 8:41563663 | R>W | A:699 | (19.44, 64.32, 31.88) | |
| 8:41561962 | S>N | A:709 | (31.33, 78.36, 38.88) | |
| 8:41561956 | rs139375455 | Y>C | A:711 | (32.31, 77.20, 32.21) |
| 8:41561921 | rs150899388 | H>N | A:723 | (18.62, 86.83, 42.15) |
| 8:41561914 | A>G | A:725 | (21.09, 80.33, 44.78) | |
| 8:41561904 | N>K | A:728 | (25.57, 73.68, 49.16) | |
| 8:41561900 | K>Q | A:730 | (25.13, 68.04, 46.24) | |
| 8:41561654 | G>R | A:734 | (28.46, 65.53, 44.59) | |
| 8:41561629 | rs201492967 | A>D | A:742 | (38.36, 74.11, 41.98) |
| 8:41561620 | G>E | A:745 | (40.87, 77.59, 39.27) | |
| 8:41561609 | I>V | A:749 | (34.49, 81.63, 42.37) | |
| 8:41561606 | COSM3900208 COSM3900207 |
V>M | A:750 | (36.67, 79.51, 45.95) |
| 8:41561585 | G>S | A:757 | (28.29, 79.41, 52.41) | |
| 8:41561576 | P>S | A:760 | (34.15, 73.14, 52.64) | |
| 8:41561570 | E>K | A:762 | (30.80, 68.31, 51.10) | |
| 8:41561563 | COSM3649238 COSM3649237 |
S>N | A:764 | (32.31, 63.01, 45.91) |
| 8:41561560 | rs185448932 | S>L | A:765 | (30.51, 60.12, 44.15) |
| 8:41559662 | D>N | A:766 | (34.33, 60.13, 43.05) | |
| 8:41559631 | rs183870975 | R>L | A:776 | (44.64, 65.29, 42.61) |
| 8:41559632 | R>C | A:776 | (44.64, 65.29, 42.61) | |
| 8:41559620 | rs369132742 | I>V | A:780 | (48.46, 76.72, 45.01) |
| 8:41559587 | D>N | A:791 | (37.73, 69.63, 57.87) | |
| 8:41559577 | S>N | A:794 | (38.28, 60.49, 57.48) | |
| 8:41559139 | rs201720301 | L>S | A:797 | (42.07, 58.15, 47.59) |
| 8:41559107 | E>K | A:808 | (25.37, 68.55, 30.84) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 8:41573210 | COSM387891 | A>V | A:521 | (13.03, 86.69, -20.49) |
| 8:41566469 | COSM87958 | A>T | A:609 | (17.15, 85.55, 14.06) |
| 8:41566438 | COSM3982541 | R>H | A:619 | (9.15, 92.17, 16.57) |
| 8:41566384 | COSM1597702 | T>M | A:637 | (14.84, 76.98, 21.82) |
| 8:41563734 | COSM1624019 | V>E | A:675 | (23.47, 82.69, 30.38) |