General Structure Information
| PDB ID | 3kfv |
| HGNC Gene Label(s) | TJP3 |
| Structure Name | crystal structure of the sh3-kinase fragment of tight junction protein 3 (tjp3) in apo-form |
| Resolution | 2.8Å |
| Reference | AUTH Y.TONG,L.NEDYALKOVA,W.TEMPEL,N.ZHONG,X.GUAN,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,AUTH 3 A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF THE SH3-KINASE FRAGMENT OFTITL 2 TIGHT JUNCTION PROTEIN 3 (TJP3) IN APO-FORMREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 238 |
| Number Of SNVs | 88 |
| Number Of Permutations | 37448 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.203 |
| p-value | 0.442 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:3738942 | R>C | A:495 | (16.17, 11.06, 24.54) | |
| 19:3738943 | R>H | A:495 | (16.17, 11.06, 24.54) | |
| 19:3738949 | H>R | A:497 | (13.02, 11.21, 28.86) | |
| 19:3738967 | S>I | A:503 | (27.90, 12.12, 41.47) | |
| 19:3738970 | P>L | A:504 | (30.87, 12.57, 43.29) | |
| 19:3738973 | rs531862475 | P>L | A:505 | (33.68, 10.78, 41.08) |
| 19:3738987 | F>I | A:510 | (20.55, 12.89, 33.52) | |
| 19:3738988 | F>S | A:510 | (20.55, 12.89, 33.52) | |
| 19:3738994 | rs558251365 | R>H | A:512 | (13.22, 15.79, 31.17) |
| 19:3738999 | rs181931412 | D>N | A:514 | (20.63, 14.94, 27.77) |
| 19:3739002 | rs552993820 | V>I | A:515 | (22.20, 11.82, 24.46) |
| 19:3739006 | F>S | A:516 | (24.21, 9.90, 27.87) | |
| 19:3739008 | H>Y | A:517 | (28.09, 6.01, 23.43) | |
| 19:3739015 | L>R | A:519 | (30.66, 2.80, 26.17) | |
| 19:3739021 | T>M | A:521 | (26.37, -2.76, 30.35) | |
| 19:3739072 | rs147001701 | A>V | A:538 | (28.79, 6.69, 29.73) |
| 19:3739074 | V>M | A:539 | (29.84, 9.27, 26.92) | |
| 19:3739075 | V>A | A:539 | (29.84, 9.27, 26.92) | |
| 19:3739077 | rs138219655 | R>C | A:540 | (27.42, 14.31, 28.39) |
| 19:3739078 | rs142305153 | R>H | A:540 | (27.42, 14.31, 28.39) |
| 19:3739086 | R>C | A:543 | (25.59, 19.28, 19.40) | |
| 19:3739093 | L>P | A:545 | (27.16, 14.37, 17.37) | |
| 19:3739096 | R>Q | A:546 | (31.02, 14.83, 20.25) | |
| 19:3739098 | E>K | A:547 | (32.43, 11.13, 22.73) | |
| 19:3739107 | rs35628485 | R>W | A:550 | (34.80, 8.46, 30.61) |
| 19:3739108 | R>Q | A:550 | (34.80, 8.46, 30.61) | |
| 19:3739117 | I>N | A:553 | (24.77, 6.26, 33.76) | |
| 19:3739128 | S>G | A:557 | (16.14, -0.52, 37.14) | |
| 19:3740560 | L>V | A:562 | (15.54, 7.61, 39.93) | |
| 19:3740578 | A>T | A:568 | (6.09, 11.79, 43.47) | |
| 19:3740585 | R>K | A:570 | (6.66, 16.54, 39.64) | |
| 19:3740707 | A>T | A:611 | (4.48, 17.90, 30.01) | |
| 19:3740710 | L>V | A:612 | (6.27, 17.50, 26.46) | |
| 19:3740717 | R>Q | A:614 | (3.62, 12.77, 30.18) | |
| 19:3740723 | G>D | A:616 | (4.77, 11.37, 24.86) | |
| 19:3740725 | rs545843993 COSM995586 |
R>C | A:617 | (4.20, 8.39, 26.30) |
| 19:3740726 | R>H | A:617 | (4.20, 8.39, 26.30) | |
| 19:3740744 | R>Q | A:623 | (17.91, 1.68, 22.67) | |
| 19:3740749 | rs182665341 | V>M | A:625 | (19.22, 5.75, 16.35) |
| 19:3740754 | L>F | A:626 | (22.01, 8.83, 14.32) | |
| 19:3740756 | R>Q | A:627 | (18.84, 6.85, 11.14) | |
| 19:3743946 | K>R | A:632 | (12.03, 19.78, 4.56) | |
| 19:3743948 | rs150181963 | R>C | A:633 | (16.03, 19.96, 10.35) |
| 19:3743949 | rs190555817 | R>H | A:633 | (16.03, 19.96, 10.35) |
| 19:3743973 | V>A | A:641 | (18.26, 39.57, 10.55) | |
| 19:3743978 | rs377123957 | D>N | A:643 | (12.98, 40.23, 9.87) |
| 19:3743982 | I>T | A:644 | (15.53, 40.59, 6.76) | |
| 19:3743984 | A>P | A:645 | (15.77, 36.23, 6.46) | |
| 19:3743990 | Q>K | A:647 | (11.43, 37.26, 3.65) | |
| 19:3744002 | A>T | A:651 | (10.52, 35.30, -1.81) | |
| 19:3744005 | COSM3822845 | E>K | A:652 | (14.66, 33.23, -3.31) |
| 19:3744018 | rs368884643 | Q>R | A:656 | (12.03, 25.04, -0.62) |
| 19:3744021 | F>C | A:657 | (11.78, 28.10, 2.71) | |
| 19:3744026 | I>F | A:659 | (6.73, 32.39, 7.82) | |
| 19:3744029 | rs574919727 | A>T | A:660 | (5.48, 30.33, 11.18) |
| 19:3744032 | E>K | A:661 | (2.17, 31.63, 12.40) | |
| 19:3746014 | V>M | A:663 | (-0.17, 34.97, 18.14) | |
| 19:3746047 | rs375012413 | K>E | A:674 | (0.47, 26.49, 18.51) |
| 19:3746050 | L>V | A:675 | (3.94, 21.49, 17.24) | |
| 19:3746056 | rs201423440 | T>A | A:677 | (1.95, 25.53, 12.90) |
| 19:3746059 | rs372340881 | V>M | A:678 | (5.62, 23.35, 12.53) |
| 19:3746063 | R>Q | A:679 | (2.58, 18.73, 12.90) | |
| 19:3746065 | V>M | A:680 | (1.01, 21.87, 8.65) | |
| 19:3746069 | rs199915113 | I>T | A:681 | (4.77, 23.99, 7.30) |
| 19:3746072 | A>G | A:682 | (6.38, 19.80, 7.07) | |
| 19:3746491 | rs148817261 | H>Q | A:687 | (12.55, 24.07, 5.34) |
| 19:3746493 | rs145007194 | A>V | A:688 | (9.60, 26.02, 9.09) |
| 19:3746516 | A>T | A:696 | (10.99, 27.01, 21.91) | |
| 19:3746525 | rs142262857 | R>C | A:699 | (9.19, 23.84, 23.79) |
| 19:3746526 | rs199953340 | R>H | A:699 | (9.19, 23.84, 23.79) |
| 19:3746532 | rs146257894 | N>S | A:701 | (15.38, 20.13, 20.41) |
| 19:3746553 | rs373854077 | I>T | A:708 | (18.37, 24.30, 11.44) |
| 19:3746573 | rs115816600 | E>K | A:715 | (30.17, 44.53, 12.92) |
| 19:3746577 | S>N | A:716 | (27.97, 47.44, 15.29) | |
| 19:3746579 | COSM3388915 | R>W | A:717 | (25.16, 49.22, 19.05) |
| 19:3746580 | R>Q | A:717 | (25.16, 49.22, 19.05) | |
| 19:3746583 | rs140303425 | P>L | A:718 | (26.33, 51.28, 13.98) |
| 19:3746598 | rs150210055 | L>P | A:723 | (22.20, 45.75, 7.37) |
| 19:3746600 | R>C | A:724 | (17.26, 46.42, 9.93) | |
| 19:3746601 | COSM1612130 | R>H | A:724 | (17.26, 46.42, 9.93) |
| 19:3746604 | Q>R | A:725 | (17.79, 51.90, 6.69) | |
| 19:3746608 | W>C | A:726 | (20.64, 48.04, 1.27) | |
| 19:3746618 | A>T | A:730 | (10.26, 50.55, 6.32) | |
| 19:3746625 | rs535212647 COSM1392559 |
R>H | A:732 | (9.92, 50.13, 12.81) |
| 19:3746627 | R>C | A:733 | (11.91, 46.07, 14.53) | |
| 19:3746628 | rs142067032 | R>H | A:733 | (11.91, 46.07, 14.53) |
| 19:3746636 | rs571782628 COSM1711614 |
R>C | A:736 | (18.47, 51.17, 21.08) |
| 19:3746637 | R>H | A:736 | (18.47, 51.17, 21.08) | |
| 19:3746640 | rs370766855 COSM1564515 |
R>H | A:737 | (16.66, 46.26, 21.09) |
| 19:3746648 | A>T | A:740 | (20.85, 43.69, 23.11) | |
| 19:3746662 | K>N | A:744 | (21.24, 37.98, 25.62) | |
| 19:3746667 | R>Q | A:746 | (27.46, 35.68, 21.43) | |
| 19:3746798 | rs146296894 | S>N | A:763 | (26.70, 41.92, 1.46) |
| 19:3746840 | Q>L | A:777 | (22.81, 21.63, 9.19) | |
| 19:3746846 | rs138265239 | T>M | A:779 | (22.06, 16.22, 5.11) |
| 19:3746848 | rs35335659 | R>W | A:780 | (24.56, 17.62, 9.31) |
| 19:3746849 | rs144396449 | R>Q | A:780 | (24.56, 17.62, 9.31) |
| 19:3746855 | I>T | A:782 | (18.52, 13.65, 13.45) | |
| 19:3746861 | rs148761411 | T>M | A:784 | (15.62, 8.66, 15.97) |
| 19:3746864 | A>V | A:785 | (13.60, 6.19, 17.81) | |
| 19:3746866 | rs373781194 | E>K | A:786 | (16.46, 1.94, 18.37) |