General Structure Information
| PDB ID | 4npj |
| HGNC Gene Label(s) | ESYT2 |
| Structure Name | extended-synaptotagmin 2, c2a- and c2b-domains |
| Resolution | 2.1Å |
| Reference | AUTH J.XU,T.BACAJ,A.ZHOU,D.R.TOMCHICK,T.C.SUDHOF,J.RIZOTITL STRUCTURE AND CA(2+)-BINDING PROPERTIES OF THE TANDEM C2TITL 2 DOMAINS OF E-SYT2.REF STRUCTURE V. 22 269 2014REFN ISSN 0969-2126PMID 24373768DOI 10.1016/J.STR.2013.11.011 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 292 |
| Number Of SNVs | 80 |
| Number Of Permutations | 37461 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.033 |
| p-value | 0.047 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:158560409 | N>S | A:363 | (11.45, -17.08, -66.74) | |
| 7:158560404 | COSM3636868 | I>V | A:365 | (16.49, -15.99, -59.58) |
| 7:158560400 | T>I | A:366 | (12.28, -16.19, -56.11) | |
| 7:158560398 | rs373194637 COSM1088011 |
V>I | A:367 | (15.96, -14.60, -53.07) |
| 7:158560388 | rs147223873 | V>D | A:370 | (12.22, -16.34, -44.38) |
| 7:158560366 | Q>H | A:377 | (5.05, -12.97, -25.11) | |
| 7:158560361 | COSM351578 | R>Q | A:379 | (2.56, -12.23, -20.42) |
| 7:158560362 | COSM1088010 | R>W | A:379 | (2.56, -12.23, -20.42) |
| 7:158560352 | V>A | A:382 | (8.44, -14.85, -11.24) | |
| 7:158557543 | rs369196893 | G>D | A:385 | (10.66, -13.97, -3.35) |
| 7:158557531 | I>T | A:389 | (6.96, -16.77, 8.34) | |
| 7:158557528 | rs143694489 | H>R | A:390 | (11.67, -17.97, 11.91) |
| 7:158557513 | COSM1449714 | Q>R | A:395 | (4.77, -12.33, 26.26) |
| 7:158557511 | D>Y | A:396 | (1.39, -11.95, 28.47) | |
| 7:158557498 | rs374804787 | K>I | A:400 | (-10.63, -19.42, 28.58) |
| 7:158557493 | rs372452282 | T>A | A:402 | (-14.18, -15.72, 35.80) |
| 7:158557483 | K>R | A:405 | (-10.56, -13.58, 41.92) | |
| 7:158557484 | K>Q | A:405 | (-10.56, -13.58, 41.92) | |
| 7:158557475 | V>L | A:408 | (-9.56, -23.81, 37.30) | |
| 7:158557458 | D>E | A:413 | (-5.13, -24.49, 24.38) | |
| 7:158557447 | I>N | A:417 | (-4.32, -19.72, 11.26) | |
| 7:158557445 | rs574964939 | I>V | A:418 | (0.65, -18.09, 9.79) |
| 7:158557438 | V>A | A:420 | (1.74, -15.05, 2.86) | |
| 7:158557432 | N>T | A:422 | (-3.59, -17.94, -2.02) | |
| 7:158557420 | rs369961286 | Q>R | A:426 | (-2.78, -25.02, 11.52) |
| 7:158557401 | rs201437070 | E>D | A:432 | (-2.88, -26.06, 29.93) |
| 7:158557381 | N>S | A:439 | (10.00, -22.84, 18.67) | |
| 7:158557372 | rs34213199 | Y>C | A:442 | (5.52, -21.85, 9.14) |
| 7:158555855 | rs530697817 | A>V | A:444 | (5.96, -18.01, 1.94) |
| 7:158555846 | Y>C | A:447 | (4.14, -14.47, -6.44) | |
| 7:158555839 | H>Q | A:449 | (-0.55, -8.35, -4.59) | |
| 7:158555838 | P>S | A:450 | (0.48, -3.88, -5.02) | |
| 7:158555834 | G>V | A:451 | (-0.46, -3.87, -0.31) | |
| 7:158555832 | Q>K | A:452 | (0.47, -9.00, -0.28) | |
| 7:158555817 | E>Q | A:457 | (-5.73, -14.69, 13.06) | |
| 7:158555778 | G>R | A:470 | (-5.44, -12.05, 18.53) | |
| 7:158554230 | rs145682972 | M>T | A:473 | (-2.78, -7.12, 9.48) |
| 7:158554225 | D>N | A:475 | (3.63, -4.09, 5.28) | |
| 7:158554221 | rs201638107 | L>P | A:476 | (4.79, -8.55, 2.76) |
| 7:158554222 | L>F | A:476 | (4.79, -8.55, 2.76) | |
| 7:158554207 | K>Q | A:481 | (12.45, -0.63, 3.80) | |
| 7:158554187 | E>D | A:487 | (10.77, -7.34, 16.15) | |
| 7:158552832 | T>A | A:490 | (1.91, -5.20, 20.69) | |
| 7:158552825 | D>G | A:492 | (-4.29, -6.04, 16.98) | |
| 7:158552813 | K>R | A:496 | (-3.13, -9.62, 28.37) | |
| 7:158552814 | K>E | A:496 | (-3.13, -9.62, 28.37) | |
| 7:158552801 | H>R | A:500 | (9.43, -13.32, 19.33) | |
| 7:158552780 | COSM600417 | T>M | A:507 | (16.37, -12.36, -2.78) |
| 7:158552756 | L>R | A:515 | (23.93, -23.85, -2.59) | |
| 7:158552251 | rs373078384 | D>H | A:525 | (17.70, -23.48, 11.57) |
| 7:158552235 | rs370521803 | N>S | A:530 | (5.43, -28.99, 8.91) |
| 7:158552233 | D>N | A:531 | (7.94, -29.51, 4.69) | |
| 7:158552230 | G>S | A:532 | (11.46, -28.83, 5.79) | |
| 7:158552226 | L>P | A:533 | (13.79, -24.98, 6.02) | |
| 7:158552198 | L>F | A:542 | (5.84, -29.12, -19.83) | |
| 7:158552183 | N>K | A:547 | (7.80, -38.79, -32.04) | |
| 7:158552181 | L>P | A:548 | (4.94, -39.50, -26.93) | |
| 7:158552178 | P>L | A:549 | (5.05, -44.19, -27.10) | |
| 7:158542411 | G>R | A:551 | (0.84, -45.31, -33.83) | |
| 7:158542392 | N>S | A:557 | (-2.79, -41.44, -30.84) | |
| 7:158542393 | N>D | A:557 | (-2.79, -41.44, -30.84) | |
| 7:158542389 | P>Q | A:558 | (-1.43, -41.74, -26.70) | |
| 7:158542380 | rs141076689 | V>A | A:561 | (-0.74, -36.66, -18.25) |
| 7:158542374 | Q>R | A:563 | (3.44, -36.93, -12.36) | |
| 7:158542342 | K>E | A:574 | (-4.04, -29.09, -17.18) | |
| 7:158540967 | rs375992686 | R>Q | A:576 | (-3.14, -31.57, -24.04) |
| 7:158540955 | N>S | A:580 | (1.89, -39.12, -31.00) | |
| 7:158540953 | E>Q | A:581 | (2.93, -34.11, -31.44) | |
| 7:158540940 | E>V | A:585 | (2.66, -24.19, -24.00) | |
| 7:158540930 | F>L | A:588 | (4.78, -26.52, -13.80) | |
| 7:158540920 | rs202193173 | I>V | A:592 | (14.48, -27.42, -4.67) |
| 7:158540904 | R>H | A:597 | (22.10, -35.39, -1.48) | |
| 7:158540905 | COSM1088009 | R>C | A:597 | (22.10, -35.39, -1.48) |
| 7:158536359 | E>G | A:607 | (-5.37, -40.40, -18.67) | |
| 7:158536360 | E>K | A:607 | (-5.37, -40.40, -18.67) | |
| 7:158536345 | rs2305475 | S>P | A:612 | (4.57, -45.19, -18.74) |
| 7:158536335 | N>S | A:615 | (10.55, -41.85, -17.79) | |
| 7:158536323 | rs201967281 | P>R | A:619 | (20.42, -34.97, -12.23) |
| 7:158536305 | T>I | A:625 | (27.59, -26.45, -13.23) | |
| 7:158536278 | COSM1449709 | R>H | A:634 | (13.16, -31.35, -28.17) |
| 7:158536267 | rs2305473 | S>G | A:638 | (13.94, -43.15, -20.52) |
| 7:158536257 | G>D | A:641 | (10.26, -44.62, -27.85) | |
| 7:158536252 | rs139224669 | N>D | A:643 | (13.30, -39.98, -32.22) |
| 7:158536239 | K>R | A:647 | (10.89, -27.99, -26.71) | |
| 7:158536221 | rs377699961 | R>Q | A:653 | (17.19, -18.56, -10.32) |
| 7:158536222 | R>W | A:653 | (17.19, -18.56, -10.32) | |
| 7:158534575 | rs547900513 | E>K | A:658 | (20.89, -9.72, 0.39) |
| 7:158534571 | K>M | A:659 | (24.19, -7.27, 5.26) |