General Structure Information
| PDB ID | 4c0a |
| HGNC Gene Label(s) | IQSEC1 |
| Structure Name | arf1(delta1-17)in complex with brag2 sec7-ph domain |
| Resolution | 3.3Å |
| Reference | AUTH K.AIZEL,V.BIOU,J.NAVAZA,L.V.DUARTE,V.CAMPANACCI,J.CHERFILS,AUTH 2 M.ZEGHOUFTITL INTEGRATED CONFORMATIONAL AND LIPID-SENSING REGULATION OFTITL 2 ENDOSOMAL ARFGEF BRAG2.REF PLOS BIOL. V. 11 01652 2013REFN ISSN 1544-9173PMID 24058294DOI 10.1371/JOURNAL.PBIO.1001652 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 357 |
| Number Of SNVs | 78 |
| Number Of Permutations | 22496 |
| Optimal Distance Threshold | 26.0 |
| K Statistic | 0.322 |
| p-value | 0.004 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:12976999 | N>S | B:398 | (-9.68, -19.56, 1.40) | |
| 3:12976987 | rs141003089 | R>H | B:402 | (-14.98, -14.75, 1.25) |
| 3:12976972 | R>H | B:407 | (-17.26, -18.58, -7.12) | |
| 3:12976970 | I>V | B:408 | (-21.21, -14.58, -6.65) | |
| 3:12966207 | rs200196417 COSM1327893 |
R>H | B:427 | (-19.82, -9.31, 0.15) |
| 3:12966193 | D>N | B:432 | (-13.42, 1.99, -2.63) | |
| 3:12966189 | T>M | B:433 | (-9.15, 2.83, -4.46) | |
| 3:12966156 | COSM1669979 COSM1669980 COSM1669981 |
R>H | B:444 | (-8.00, -10.65, -8.69) |
| 3:12966141 | R>Q | B:449 | (-9.82, -9.55, -20.97) | |
| 3:12966130 | rs138821329 | G>S | B:453 | (-14.38, -2.19, -21.30) |
| 3:12966111 | rs141779654 | R>Q | B:459 | (-19.20, 8.23, -21.87) |
| 3:12966099 | F>S | B:463 | (-14.68, 4.81, -9.54) | |
| 3:12966093 | R>H | B:465 | (-13.60, 9.36, -16.91) | |
| 3:12966082 | D>N | B:469 | (-7.02, 7.51, -15.77) | |
| 3:12963738 | COSM116798 | V>L | B:471 | (-5.52, 1.17, -16.04) |
| 3:12963696 | rs555858292 | A>S | B:485 | (1.23, 0.61, -27.54) |
| 3:12963647 | K>R | B:501 | (-16.53, 1.00, -25.69) | |
| 3:12963638 | rs144801312 | R>Q | B:504 | (-12.72, 7.57, -22.45) |
| 3:12962091 | R>H | B:512 | (0.54, 7.43, -20.19) | |
| 3:12962092 | R>C | B:512 | (0.54, 7.43, -20.19) | |
| 3:12962074 | rs35319679 | P>S | B:518 | (7.13, 13.77, -25.30) |
| 3:12962070 | G>V | B:519 | (8.86, 13.86, -29.03) | |
| 3:12962052 | COSM3695811 COSM3695812 |
R>Q | B:525 | (1.46, 21.51, -37.75) |
| 3:12962053 | R>W | B:525 | (1.46, 21.51, -37.75) | |
| 3:12962046 | P>L | B:527 | (-2.10, 17.14, -30.26) | |
| 3:12962047 | P>S | B:527 | (-2.10, 17.14, -30.26) | |
| 3:12962032 | I>V | B:532 | (-6.81, 10.91, -35.44) | |
| 3:12961983 | rs376832198 | N>S | B:548 | (-17.78, -8.59, -42.75) |
| 3:12961971 | rs201571499 | E>G | B:552 | (-13.36, -4.42, -51.52) |
| 3:12961972 | E>K | B:552 | (-13.36, -4.42, -51.52) | |
| 3:12961968 | R>Q | B:553 | (-10.55, -1.44, -53.07) | |
| 3:12961969 | R>W | B:553 | (-10.55, -1.44, -53.07) | |
| 3:12961950 | D>G | B:559 | (-5.31, 2.69, -49.76) | |
| 3:12961945 | rs76354202 | I>V | B:561 | (-0.60, 6.52, -46.80) |
| 3:12961941 | rs368596372 | K>R | B:562 | (-4.93, 8.77, -50.38) |
| 3:12957225 | D>N | B:569 | (-3.60, 20.92, -38.31) | |
| 3:12957217 | E>D | B:571 | (-0.04, 19.64, -43.09) | |
| 3:12957206 | R>H | B:575 | (4.50, 8.45, -47.30) | |
| 3:12957207 | rs200895339 | R>C | B:575 | (4.50, 8.45, -47.30) |
| 3:12957200 | M>T | B:577 | (4.85, 6.75, -38.96) | |
| 3:12957192 | rs541280755 | G>R | B:580 | (4.86, 0.72, -40.50) |
| 3:12957180 | R>W | B:584 | (4.37, -2.32, -37.50) | |
| 3:12957174 | rs141163963 | R>C | B:586 | (1.03, -7.42, -43.51) |
| 3:12957170 | K>M | B:587 | (3.69, -8.30, -40.48) | |
| 3:12957171 | K>Q | B:587 | (3.69, -8.30, -40.48) | |
| 3:12957152 | rs145903276 | N>S | B:593 | (-5.01, -11.41, -23.91) |
| 3:12957117 | rs562067887 | K>Q | B:605 | (-15.81, -23.97, -32.02) |
| 3:12957104 | rs370757999 | G>A | B:609 | (-26.56, -28.49, -32.23) |
| 3:12956609 | G>S | B:621 | (-26.33, -24.81, -27.44) | |
| 3:12955050 | L>F | B:624 | (-22.53, -22.04, -24.91) | |
| 3:12955034 | COSM1418747 | R>H | B:629 | (-21.94, -19.23, -19.58) |
| 3:12955027 | L>F | B:631 | (-15.77, -24.89, -18.49) | |
| 3:12955001 | V>A | B:640 | (-29.02, -44.62, -16.68) | |
| 3:12954972 | G>R | B:650 | (-20.64, -48.30, -22.79) | |
| 3:12954959 | R>Q | B:654 | (-23.96, -39.66, -23.28) | |
| 3:12954955 | E>D | B:655 | (-19.18, -36.77, -23.54) | |
| 3:12953216 | F>L | B:669 | (-20.44, -36.36, -34.95) | |
| 3:12953203 | K>R | B:673 | (-7.11, -38.89, -35.60) | |
| 3:12953197 | S>L | B:675 | (-10.26, -33.11, -33.67) | |
| 3:12953191 | T>M | B:677 | (-16.74, -33.25, -32.73) | |
| 3:12953185 | S>N | B:679 | (-23.73, -34.12, -30.91) | |
| 3:12953174 | S>P | B:683 | (-29.49, -28.27, -21.41) | |
| 3:12953169 | F>L | B:684 | (-29.90, -30.39, -17.79) | |
| 3:12953159 | rs376936605 | G>S | B:688 | (-33.30, -26.44, -8.52) |
| 3:12953129 | rs80261363 | Y>H | B:698 | (-28.61, -53.86, -12.02) |
| 3:12950928 | P>R | B:700 | (-21.66, -48.80, -9.26) | |
| 3:12950925 | rs149003329 | N>S | B:701 | (-20.22, -45.52, -9.83) |
| 3:12950919 | I>T | B:703 | (-25.19, -39.85, -10.71) | |
| 3:12950916 | rs149771840 | R>Q | B:704 | (-31.66, -39.89, -9.80) |
| 3:12950907 | rs553936985 | S>L | B:707 | (-35.96, -30.75, -10.47) |
| 3:12950899 | P>S | B:710 | (-42.05, -24.25, -6.68) | |
| 3:12950896 | rs139635176 | G>R | B:711 | (-45.19, -27.64, -6.31) |
| 3:12950889 | D>G | B:713 | (-42.56, -31.45, -5.53) | |
| 3:12950886 | I>N | B:714 | (-39.15, -33.90, -7.00) | |
| 3:12950880 | V>A | B:716 | (-35.85, -37.54, -12.53) | |
| 3:12950875 | I>L | B:718 | (-30.45, -37.21, -16.10) | |
| 3:12950856 | N>S | B:724 | (-14.40, -43.87, -11.47) | |
| 3:12950844 | R>Q | B:728 | (-19.94, -41.22, -7.77) | |
| 3:12950845 | rs371733963 | R>W | B:728 | (-19.94, -41.22, -7.77) |
| 3:12950830 | D>N | B:733 | (-17.96, -32.54, -5.23) | |
| 3:12950820 | COSM389444 | R>Q | B:736 | (-22.91, -30.99, -4.44) |
| 3:12950812 | rs181893318 | I>V | B:739 | (-26.17, -26.02, -7.57) |
| 3:12950808 | A>V | B:740 | (-24.77, -23.03, -4.66) | |
| 3:12950806 | COSM1308553 | E>K | B:741 | (-22.40, -20.23, -7.88) |
| 3:12950785 | H>Y | B:748 | (-28.19, -10.71, -4.86) | |
| 3:12950016 | E>G | B:755 | (-34.33, -3.72, -1.67) |