General Structure Information
| PDB ID | 2c0m |
| HGNC Gene Label(s) | PEX5 |
| Structure Name | apo form of the tpr domain of the pex5p receptor |
| Resolution | 2.5Å |
| Reference | AUTH W.A.STANLEY,F.V.FILIPP,P.KURSULA,N.SCHULLER,AUTH 2 R.ERDMANN,W.SCHLIEBS,M.SATTLER,M.WILMANNSTITL RECOGNITION OF A FUNCTIONAL PEROXISOME TYPE 1TITL 2 TARGET BY THE DYNAMIC IMPORT RECEPTOR PEX5P.REF MOL.CELL V. 24 653 2006REFN ISSN 1097-2765PMID 17157249DOI 10.1016/J.MOLCEL.2006.10.024 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 302 |
| Number Of SNVs | 79 |
| Number Of Permutations | 13666 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.185 |
| p-value | 0.0 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:7356146 | K>M | F:285 | (37.81, 64.14, 67.86) | |
| 12:7360259 | Y>C | F:287 | (39.46, 61.63, 59.70) | |
| 12:7360278 | N>K | F:293 | (47.51, 57.13, 51.28) | |
| 12:7360280 | P>R | F:294 | (48.93, 54.88, 48.55) | |
| 12:7360285 | R>C | F:296 | (48.12, 62.58, 49.66) | |
| 12:7360286 | rs59209175 | R>H | F:296 | (48.12, 62.58, 49.66) |
| 12:7360318 | rs145762725 | R>W | F:307 | (35.30, 57.70, 39.07) |
| 12:7360321 | rs199822160 | R>C | F:308 | (37.22, 53.06, 42.41) |
| 12:7360366 | A>T | F:323 | (43.33, 63.08, 49.66) | |
| 12:7360380 | Q>H | F:327 | (44.44, 68.63, 48.16) | |
| 12:7360385 | P>L | F:329 | (41.12, 71.46, 53.99) | |
| 12:7360391 | H>R | F:331 | (36.60, 69.69, 48.94) | |
| 12:7360615 | Y>H | F:337 | (30.35, 61.85, 49.04) | |
| 12:7360625 | T>I | F:340 | (28.78, 58.86, 53.44) | |
| 12:7360672 | rs375895266 | R>W | F:356 | (31.83, 66.35, 64.25) |
| 12:7360673 | rs145690714 | R>Q | F:356 | (31.83, 66.35, 64.25) |
| 12:7360676 | R>T | F:357 | (36.55, 69.30, 59.59) | |
| 12:7361057 | L>V | F:359 | (28.34, 70.34, 59.13) | |
| 12:7361082 | T>I | F:367 | (22.56, 65.33, 52.97) | |
| 12:7361084 | rs267608195 PEX5_00007 COSM3417125 COSM3417124 |
A>T | F:368 | (25.20, 65.85, 56.15) |
| 12:7361121 | S>F | F:380 | (23.33, 54.49, 70.68) | |
| 12:7361130 | R>Q | F:383 | (21.17, 64.14, 73.55) | |
| 12:7361145 | rs1057191 | T>N | F:388 | (21.51, 66.65, 64.02) |
| 12:7361163 | rs144901507 | R>Q | F:394 | (17.84, 75.11, 62.27) |
| 12:7361165 | Y>D | F:395 | (19.89, 74.82, 58.71) | |
| 12:7361169 | rs372518460 | T>I | F:396 | (14.49, 72.60, 55.69) |
| 12:7361171 | P>A | F:397 | (13.43, 75.98, 53.83) | |
| 12:7361186 | L>V | F:402 | (8.22, 73.77, 62.59) | |
| 12:7361240 | rs199544306 | R>C | F:420 | (6.74, 61.52, 81.99) |
| 12:7361241 | R>H | F:420 | (6.74, 61.52, 81.99) | |
| 12:7361246 | rs375947901 | L>V | F:422 | (11.71, 54.29, 86.32) |
| 12:7361252 | rs369698308 | S>T | F:424 | (16.98, 54.33, 85.62) |
| 12:7361255 | L>F | F:425 | (18.11, 57.69, 83.02) | |
| 12:7361265 | D>G | F:428 | (15.61, 62.67, 77.25) | |
| 12:7361603 | S>Y | F:429 | (13.00, 66.25, 76.72) | |
| 12:7361615 | E>G | F:433 | (10.98, 68.90, 71.28) | |
| 12:7361621 | K>R | F:435 | (8.29, 62.19, 68.40) | |
| 12:7361636 | A>E | F:440 | (4.07, 68.25, 62.33) | |
| 12:7361645 | COSM4044757 COSM4044756 |
R>Q | F:443 | (-0.19, 66.34, 60.81) |
| 12:7361653 | COSM3465149 COSM3465148 |
P>S | F:446 | (-0.77, 65.12, 54.16) |
| 12:7361663 | I>T | F:449 | (5.85, 61.06, 51.14) | |
| 12:7361679 | rs200550340 | Q>H | F:454 | (8.77, 59.31, 57.29) |
| 12:7361699 | F>C | F:461 | (8.77, 56.12, 66.20) | |
| 12:7361719 | D>N | F:468 | (4.98, 49.04, 64.91) | |
| 12:7361725 | A>S | F:470 | (9.23, 52.65, 62.23) | |
| 12:7361728 | rs138028549 | V>M | F:471 | (8.01, 49.91, 59.91) |
| 12:7361749 | rs370984432 | L>V | F:478 | (11.55, 52.71, 50.82) |
| 12:7361755 | rs201596535 | V>I | F:480 | (9.94, 57.80, 47.51) |
| 12:7361759 | rs146183061 | R>H | F:481 | (14.79, 57.52, 48.95) |
| 12:7361765 | rs139364109 | N>S | F:483 | (16.87, 52.49, 44.81) |
| 12:7362282 | rs187029046 | Y>H | F:485 | (22.00, 51.08, 50.02) |
| 12:7362325 | N>S | F:499 | (9.87, 39.51, 66.52) | |
| 12:7362354 | R>C | F:509 | (17.25, 38.24, 50.51) | |
| 12:7362355 | rs375588538 | R>H | F:509 | (17.25, 38.24, 50.51) |
| 12:7362357 | R>W | F:510 | (15.80, 45.35, 47.12) | |
| 12:7362358 | rs371462892 | R>Q | F:510 | (15.80, 45.35, 47.12) |
| 12:7362374 | Q>H | F:515 | (25.55, 47.52, 47.41) | |
| 12:7362393 | R>C | F:522 | (25.24, 39.00, 52.89) | |
| 12:7362397 | Y>C | F:523 | (25.73, 39.53, 60.76) | |
| 12:7362408 | I>V | F:527 | (21.17, 37.35, 62.56) | |
| 12:7362435 | R>W | F:536 | (23.16, 24.46, 56.14) | |
| 12:7362436 | R>Q | F:536 | (23.16, 24.46, 56.14) | |
| 12:7362628 | E>K | F:540 | (25.13, 29.42, 53.45) | |
| 12:7362641 | E>V | F:544 | (28.30, 34.77, 51.43) | |
| 12:7362644 | A>V | F:545 | (30.29, 38.03, 54.64) | |
| 12:7362667 | rs139347001 | R>W | F:553 | (42.60, 41.54, 49.41) |
| 12:7362668 | R>Q | F:553 | (42.60, 41.54, 49.41) | |
| 12:7362670 | rs375897299 | G>S | F:554 | (43.46, 46.86, 49.33) |
| 12:7362676 | rs144333076 | R>W | F:556 | (49.06, 48.53, 50.82) |
| 12:7362677 | R>Q | F:556 | (49.06, 48.53, 50.82) | |
| 12:7362680 | G>D | F:557 | (47.53, 42.71, 48.84) | |
| 12:7362689 | G>D | F:560 | (41.09, 40.93, 54.79) | |
| 12:7362698 | S>L | F:563 | (34.57, 40.53, 61.81) | |
| 12:7362713 | rs146567534 | S>N | F:568 | (30.99, 34.56, 67.00) |
| 12:7362721 | rs372635542 | R>C | F:571 | (31.42, 27.86, 66.86) |
| 12:7362722 | rs201158549 | R>H | F:571 | (31.42, 27.86, 66.86) |
| 12:7362730 | rs200266963 | L>V | F:574 | (28.25, 25.93, 63.04) |
| 12:7362736 | M>V | F:576 | (22.31, 26.29, 66.46) | |
| 12:7362738 | M>I | F:576 | (22.31, 26.29, 66.46) | |
| 12:7362743 | G>D | F:578 | (25.75, 20.29, 64.22) | |
| 12:7362749 | S>T | F:580 | (30.80, 18.75, 64.51) | |
| 12:7362751 | rs377482928 | D>N | F:581 | (32.82, 18.13, 60.71) |
| 12:7362757 | rs141242661 | Y>H | F:583 | (31.86, 22.79, 65.52) |
| 12:7362769 | rs201963167 COSM943378 COSM1586775 |
D>N | F:587 | (37.77, 27.49, 66.49) |
| 12:7362772 | rs143600154 | A>T | F:588 | (41.04, 28.51, 63.07) |
| 12:7362775 | rs148040746 | R>W | F:589 | (38.70, 32.45, 63.27) |
| 12:7362776 | R>Q | F:589 | (38.70, 32.45, 63.27) | |
| 12:7362796 | rs200471952 | T>P | F:596 | (34.75, 23.77, 50.61) |
| 12:7362799 | M>V | F:597 | (33.08, 22.04, 54.67) | |
| 12:7362800 | M>R | F:597 | (33.08, 22.04, 54.67) | |
| 12:7362801 | rs145886418 | M>I | F:597 | (33.08, 22.04, 54.67) |
| 12:7362812 | rs138706552 | P>R | F:601 | (32.03, 29.86, 46.20) |