General Structure Information
| PDB ID | 2q13 |
| HGNC Gene Label(s) | APPL1 |
| Structure Name | crystal structure of bar-ph domain of appl1 |
| Resolution | 2.05Å |
| Reference | AUTH G.ZHU,J.CHEN,J.LIU,J.S.BRUNZELLE,B.HUANG,N.WAKEHAM,AUTH 2 S.TERZYAN,X.LI,Z.RAO,G.LI,X.C.ZHANGTITL STRUCTURE OF THE APPL1 BAR-PH DOMAIN AND CHARACTERIZATION OFTITL 2 ITS INTERACTION WITH RAB5.REF EMBO J. V. 26 3484 2007REFN ISSN 0261-4189PMID 17581628DOI 10.1038/SJ.EMBOJ.7601771 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 363 |
| Number Of SNVs | 78 |
| Number Of Permutations | 36346 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.023 |
| p-value | 0.5 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:57261940 | E>V | A:10 | (98.66, 21.19, 7.64) | |
| 3:57269619 | E>G | A:27 | (86.91, 9.75, -0.91) | |
| 3:57269627 | rs368795074 | A>T | A:30 | (81.93, 8.16, 2.67) |
| 3:57269643 | COSM3414448 | N>S | A:35 | (76.06, 2.75, 0.87) |
| 3:57269645 | Y>H | A:36 | (74.55, 1.39, 7.40) | |
| 3:57269646 | rs188131823 | Y>C | A:36 | (74.55, 1.39, 7.40) |
| 3:57269659 | L>F | A:40 | (68.97, 3.09, 8.47) | |
| 3:57269673 | rs529656946 COSM192684 |
H>R | A:45 | (60.37, 6.18, 4.69) |
| 3:57269675 | R>W | A:46 | (59.69, -0.15, 5.32) | |
| 3:57269676 | R>Q | A:46 | (59.69, -0.15, 5.32) | |
| 3:57269684 | D>H | A:49 | (55.14, 5.33, 5.54) | |
| 3:57269687 | A>T | A:50 | (53.19, 2.20, 8.52) | |
| 3:57271542 | H>R | A:59 | (39.88, 7.81, 11.88) | |
| 3:57271548 | T>I | A:61 | (37.68, 1.35, 11.76) | |
| 3:57272073 | rs201654453 | R>G | A:72 | (19.34, 4.91, 4.03) |
| 3:57272074 | R>H | A:72 | (19.34, 4.91, 4.03) | |
| 3:57272104 | M>T | A:82 | (24.80, -3.56, 18.44) | |
| 3:57272107 | rs557238017 | S>N | A:83 | (24.27, 1.04, 19.04) |
| 3:57272137 | rs145538605 | I>T | A:93 | (39.19, 2.09, 17.87) |
| 3:57274496 | S>G | A:97 | (43.91, 6.54, 16.22) | |
| 3:57274503 | rs147750872 | C>Y | A:99 | (48.16, 6.91, 19.87) |
| 3:57274506 | H>L | A:100 | (48.85, 4.72, 16.03) | |
| 3:57274509 | A>G | A:101 | (48.98, 10.09, 15.29) | |
| 3:57274515 | L>P | A:103 | (54.01, 7.55, 16.95) | |
| 3:57274520 | rs142276532 | T>A | A:105 | (53.85, 13.36, 14.33) |
| 3:57274536 | rs201464226 | A>V | A:110 | (62.58, 12.67, 15.65) |
| 3:57274538 | M>V | A:111 | (62.99, 8.96, 12.77) | |
| 3:57274543 | M>I | A:112 | (62.55, 10.60, 9.06) | |
| 3:57274557 | Q>P | A:117 | (69.39, 17.29, 7.68) | |
| 3:57274571 | D>H | A:122 | (75.30, 16.65, 5.37) | |
| 3:57276132 | rs377601621 | I>T | A:126 | (80.63, 15.36, 0.65) |
| 3:57276133 | I>M | A:126 | (80.63, 15.36, 0.65) | |
| 3:57276149 | rs199855351 | V>I | A:132 | (84.42, 21.67, -7.09) |
| 3:57276150 | rs370934737 | V>G | A:132 | (84.42, 21.67, -7.09) |
| 3:57276157 | rs201150623 | Q>H | A:134 | (88.31, 16.39, -10.16) |
| 3:57276161 | A>T | A:136 | (90.30, 22.20, -9.94) | |
| 3:57276168 | N>S | A:138 | (91.28, 18.38, -13.83) | |
| 3:57276896 | COSM1047614 | A>V | A:143 | (98.07, 24.76, -16.50) |
| 3:57276911 | S>N | A:148 | (105.72, 23.07, -18.73) | |
| 3:57276913 | R>C | A:149 | (104.39, 21.69, -23.20) | |
| 3:57276914 | rs146571495 | R>H | A:149 | (104.39, 21.69, -23.20) |
| 3:57276928 | R>G | A:154 | (111.11, 33.91, -29.94) | |
| 3:57280159 | T>I | A:177 | (88.59, 23.43, -3.45) | |
| 3:57280177 | C>F | A:183 | (86.24, 20.66, 6.43) | |
| 3:57280192 | rs541626610 | L>H | A:188 | (81.22, 13.36, 7.75) |
| 3:57280200 | rs200733439 | K>Q | A:191 | (77.61, 15.50, 10.62) |
| 3:57280201 | K>R | A:191 | (77.61, 15.50, 10.62) | |
| 3:57280216 | L>S | A:196 | (73.52, 6.47, 13.72) | |
| 3:57281438 | rs548416830 | M>L | A:213 | (48.90, 7.48, 24.97) |
| 3:57281442 | G>D | A:214 | (47.68, 3.33, 25.50) | |
| 3:57281450 | N>Y | A:217 | (43.32, 4.50, 26.86) | |
| 3:57281473 | E>D | A:224 | (33.74, -5.12, 32.71) | |
| 3:57281487 | I>T | A:229 | (30.95, -8.35, 24.12) | |
| 3:57281496 | S>T | A:232 | (27.04, -11.64, 23.93) | |
| 3:57281498 | rs143447963 | V>I | A:233 | (29.24, -13.68, 20.77) |
| 3:57281499 | V>A | A:233 | (29.24, -13.68, 20.77) | |
| 3:57281501 | Q>E | A:234 | (28.91, -17.97, 22.67) | |
| 3:57281502 | rs143408452 | Q>R | A:234 | (28.91, -17.97, 22.67) |
| 3:57282225 | COSM268679 | R>C | A:237 | (28.00, -18.67, 17.55) |
| 3:57282238 | rs201812017 | D>A | A:241 | (23.33, -23.10, 16.69) |
| 3:57282247 | I>T | A:244 | (19.97, -23.80, 12.45) | |
| 3:57282264 | rs200911734 | T>A | A:250 | (10.35, -26.87, 9.65) |
| 3:57282267 | I>V | A:251 | (12.70, -27.60, 5.90) | |
| 3:57282268 | I>T | A:251 | (12.70, -27.60, 5.90) | |
| 3:57282292 | rs368783056 | D>G | A:259 | (5.92, -34.49, -2.44) |
| 3:57282311 | D>E | A:265 | (-3.47, -33.49, -10.53) | |
| 3:57282312 | P>A | A:266 | (-4.20, -33.87, -6.29) | |
| 3:57282316 | rs144008669 | D>G | A:267 | (-4.95, -38.66, -4.77) |
| 3:57282319 | rs373408408 | P>R | A:268 | (-8.59, -37.71, -5.78) |
| 3:57282340 | COSM1424828 | R>Q | A:275 | (-17.20, -29.13, -2.81) |
| 3:57282352 | rs189403986 | R>Q | A:279 | (-9.83, -17.71, 2.61) |
| 3:57283419 | R>G | A:299 | (-0.33, -17.02, -12.79) | |
| 3:57283423 | rs575618191 | Q>R | A:300 | (-2.43, -11.68, -10.94) |
| 3:57283457 | S>R | A:311 | (-5.73, -8.78, -6.94) | |
| 3:57283462 | A>D | A:313 | (1.10, -8.94, -8.62) | |
| 3:57283482 | G>R | A:320 | (-6.51, -4.97, -5.57) | |
| 3:57283495 | COSM274016 | D>G | A:324 | (-18.38, -7.43, -4.99) |
| 3:57283498 | I>T | A:325 | (-18.04, -11.80, -3.95) | |
| 3:57283500 | D>N | A:326 | (-22.53, -9.02, -2.82) | |
| 3:57283526 | rs61735096 | D>E | A:334 | (-15.73, -22.69, -22.56) |
| 3:57283527 | C>R | A:335 | (-11.72, -19.74, -23.19) | |
| 3:57283540 | COSM2781930 | R>Q | A:339 | (-7.31, -27.62, -18.80) |
| 3:57283546 | C>Y | A:341 | (-12.21, -21.47, -17.16) | |
| 3:57283558 | rs141281784 | T>I | A:345 | (-21.57, -11.90, -12.61) |
| 3:57283573 | K>R | A:350 | (-19.52, -6.26, -13.48) | |
| 3:57286304 | rs371514647 | I>V | A:354 | (-11.35, -15.46, -18.23) |
| 3:57287731 | I>V | A:373 | (-18.55, -15.61, 0.10) | |
| 3:57287746 | Y>N | A:378 | (-28.17, -14.33, 5.57) |