General Structure Information
| PDB ID | 3fg6 |
| HGNC Gene Label(s) | SCIN |
| Structure Name | structure of the c-terminus of adseverin |
| Resolution | 3.0Å |
| Reference | AUTH S.CHUMNARNSILPA,W.L.LEE,S.NAG,B.KANNAN,M.LARSSON,AUTH 2 L.D.BURTNICK,R.C.ROBINSONTITL THE CRYSTAL STRUCTURE OF THE C-TERMINUS OF ADSEVERIN REVEALSTITL 2 THE ACTIN-BINDING INTERFACE.REF PROC.NATL.ACAD.SCI.USA V. 106 13719 2009REFN ISSN 0027-8424PMID 19666531DOI 10.1073/PNAS.0812383106 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 296 |
| Number Of SNVs | 89 |
| Number Of Permutations | 35898 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.072 |
| p-value | 0.903 |
COSMIC
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:12666424 | E>D | B:399 | (34.19, 12.17, -70.79) | |
| 7:12668726 | I>V | B:400 | (33.26, 7.12, -73.13) | |
| 7:12668732 | R>C | B:402 | (25.51, 2.54, -74.95) | |
| 7:12668733 | rs375869092 COSM2768257 COSM2768258 |
R>H | B:402 | (25.51, 2.54, -74.95) |
| 7:12668742 | rs573075850 | N>S | B:405 | (16.95, 6.20, -76.08) |
| 7:12668763 | D>G | B:412 | (31.93, 0.84, -67.05) | |
| 7:12668790 | G>D | B:421 | (28.96, -2.86, -83.23) | |
| 7:12668793 | COSM1447808 COSM1447809 |
G>D | B:422 | (25.81, -1.84, -82.92) |
| 7:12668802 | Y>C | B:425 | (30.02, 3.89, -78.26) | |
| 7:12668844 | T>M | B:439 | (31.43, 10.15, -83.35) | |
| 7:12675690 | rs35385652 | R>Q | B:447 | (21.12, 4.68, -92.26) |
| 7:12675695 | E>K | B:449 | (22.07, 3.65, -83.93) | |
| 7:12675698 | rs191094873 | L>M | B:450 | (24.38, 6.42, -87.77) |
| 7:12675699 | L>R | B:450 | (24.38, 6.42, -87.77) | |
| 7:12675711 | A>V | B:454 | (24.89, 13.18, -84.90) | |
| 7:12675713 | rs17166250 | F>L | B:455 | (20.65, 14.98, -81.98) |
| 7:12675720 | T>I | B:457 | (27.59, 15.23, -81.33) | |
| 7:12675726 | Q>L | B:459 | (22.70, 18.51, -78.73) | |
| 7:12675734 | R>W | B:462 | (24.16, 23.38, -80.10) | |
| 7:12675751 | rs372733902 | Q>H | B:467 | (34.62, 26.39, -79.49) |
| 7:12675755 | rs574377695 | V>L | B:469 | (36.71, 19.42, -83.03) |
| 7:12679988 | COSM3995334 COSM3995335 |
G>D | B:476 | (38.72, 1.02, -87.96) |
| 7:12679991 | rs535025368 | K>R | B:477 | (38.88, 3.97, -90.45) |
| 7:12679994 | E>G | B:478 | (39.86, 4.02, -85.21) | |
| 7:12679999 | V>I | B:480 | (46.72, 7.83, -84.68) | |
| 7:12680002 | H>Y | B:481 | (44.75, 11.40, -80.56) | |
| 7:12680004 | H>Q | B:481 | (44.75, 11.40, -80.56) | |
| 7:12680021 | K>R | B:487 | (46.24, 4.05, -71.58) | |
| 7:12680026 | K>Q | B:489 | (43.53, -1.21, -72.37) | |
| 7:12680027 | K>I | B:489 | (43.53, -1.21, -72.37) | |
| 7:12680036 | rs186847510 | I>S | B:492 | (37.23, -5.20, -77.14) |
| 7:12680086 | rs543299993 | P>A | B:509 | (26.32, -18.74, -76.09) |
| 7:12680087 | P>R | B:509 | (26.32, -18.74, -76.09) | |
| 7:12680090 | T>K | B:510 | (29.20, -19.83, -78.71) | |
| 7:12680093 | rs558593285 | R>H | B:511 | (31.03, -14.68, -77.71) |
| 7:12680095 | L>V | B:512 | (34.91, -16.40, -82.68) | |
| 7:12680107 | R>W | B:516 | (44.35, -8.15, -87.44) | |
| 7:12680108 | rs572462499 | R>Q | B:516 | (44.35, -8.15, -87.44) |
| 7:12680111 | R>I | B:517 | (49.36, -5.02, -83.22) | |
| 7:12680117 | rs200000285 | L>P | B:519 | (52.37, -2.01, -88.99) |
| 7:12680129 | T>I | B:523 | (45.79, -4.63, -80.36) | |
| 7:12680132 | rs201219407 | R>K | B:524 | (42.15, -3.11, -84.00) |
| 7:12683772 | rs149261452 | D>N | B:531 | (31.61, -20.12, -88.73) |
| 7:12683779 | N>I | B:533 | (34.67, -19.64, -92.62) | |
| 7:12683782 | S>L | B:534 | (36.00, -16.91, -89.40) | |
| 7:12683796 | D>N | B:539 | (45.17, -13.23, -87.15) | |
| 7:12683799 | V>L | B:540 | (44.94, -14.91, -82.64) | |
| 7:12683805 | COSM1287771 COSM1287772 |
V>F | B:542 | (39.15, -16.38, -78.63) |
| 7:12683808 | L>V | B:543 | (36.18, -20.51, -79.18) | |
| 7:12683818 | rs190535249 | P>L | B:546 | (28.98, -22.36, -73.40) |
| 7:12683851 | G>D | B:557 | (51.05, -15.59, -88.62) | |
| 7:12683857 | S>T | B:559 | (51.71, -11.74, -83.34) | |
| 7:12683865 | E>K | B:562 | (48.01, -10.96, -82.49) | |
| 7:12683886 | V>I | B:569 | (39.48, -11.18, -74.43) | |
| 7:12683896 | rs376426782 | V>A | B:572 | (36.99, -9.62, -70.18) |
| 7:12683918 | R>S | B:579 | (48.53, -22.21, -77.27) | |
| 7:12683931 | rs373351911 | E>K | B:584 | (48.74, -29.11, -84.27) |
| 7:12684227 | L>H | B:593 | (33.66, -23.92, -84.91) | |
| 7:12684243 | rs202220680 | D>E | B:598 | (38.24, -24.41, -96.21) |
| 7:12684245 | rs576384572 | Y>F | B:599 | (40.72, -21.50, -92.70) |
| 7:12684254 | S>L | B:602 | (47.35, -18.08, -97.89) | |
| 7:12684257 | P>L | B:603 | (50.62, -18.97, -99.16) | |
| 7:12684279 | rs370619776 | E>D | B:610 | (55.32, -6.47, -93.43) |
| 7:12684289 | P>S | B:614 | (47.72, -5.38, -97.75) | |
| 7:12684293 | rs374795982 | R>Q | B:615 | (48.96, -1.09, -101.52) |
| 7:12684301 | G>S | B:618 | (39.55, 3.15, -105.84) | |
| 7:12684308 | rs200503401 | S>Y | B:620 | (35.71, 5.71, -110.16) |
| 7:12684310 | N>D | B:621 | (33.45, 6.82, -113.70) | |
| 7:12684313 | rs558337871 | K>Q | B:622 | (31.75, 9.53, -109.28) |
| 7:12684316 | T>P | B:623 | (34.74, 12.47, -111.68) | |
| 7:12689093 | COSM1447814 COSM1447815 |
I>T | B:628 | (42.72, 4.27, -109.60) |
| 7:12689113 | rs200060312 | F>I | B:635 | (41.93, -2.40, -95.53) |
| 7:12689122 | D>H | B:638 | (32.31, -0.31, -94.51) | |
| 7:12689132 | A>V | B:641 | (32.39, 1.02, -102.87) | |
| 7:12689134 | rs570382579 | E>K | B:642 | (27.53, -0.63, -102.48) |
| 7:12689137 | rs76638693 | D>N | B:643 | (29.15, 3.01, -106.11) |
| 7:12689153 | L>P | B:648 | (43.01, -6.09, -102.71) | |
| 7:12689156 | D>G | B:649 | (47.85, -5.79, -104.14) | |
| 7:12689169 | Q>H | B:653 | (45.88, -13.16, -105.29) | |
| 7:12691473 | I>T | B:656 | (38.91, -6.98, -109.35) | |
| 7:12691481 | rs529273235 | G>S | B:659 | (29.82, -3.56, -107.29) |
| 7:12691489 | rs549094173 | D>E | B:661 | (25.83, -0.03, -108.20) |
| 7:12691500 | V>G | B:665 | (33.86, 1.28, -117.74) | |
| 7:12691511 | E>Q | B:669 | (39.77, 0.72, -117.33) | |
| 7:12691514 | S>P | B:670 | (40.30, -2.03, -113.24) | |
| 7:12691523 | S>P | B:673 | (45.05, -1.28, -114.20) | |
| 7:12691526 | rs367686561 | A>T | B:674 | (46.15, -4.91, -112.99) |
| 7:12692257 | rs537969858 | T>A | B:689 | (50.43, -12.85, -110.61) |
| 7:12692273 | I>K | B:694 | (35.31, -10.80, -106.65) | |
| 7:12692290 | P>A | B:700 | (36.46, -15.06, -101.59) | |
| 7:12692306 | G>V | B:705 | (41.17, -11.87, -94.68) | |
| 7:12692321 | W>S | B:710 | (33.67, -9.42, -94.69) | |
| 7:12692327 | S>Y | B:712 | (28.71, -11.59, -94.54) | |
| 7:12692330 | rs202237021 | S>N | B:713 | (25.39, -10.12, -92.71) |
| 7:12692337 | W>C | B:715 | (27.67, -6.82, -98.34) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:12675760 | COSM1447810 | Q>H | B:470 | (32.64, 17.93, -84.49) |
| 7:12691524 | COSM3831800 | S>F | B:673 | (45.05, -1.28, -114.20) |
| 7:12692310 | COSM287631 | W>C | B:706 | (44.50, -9.90, -96.91) |