General Structure Information
| PDB ID | 2pny |
| HGNC Gene Label(s) | IDI2 |
| Structure Name | structure of human isopentenyl-diphosphate delta-isomerase 2 |
| Resolution | 1.81Å |
| Reference | AUTH J.R.WALKER,T.DAVIS,C.BUTLER-COLE,J.WEIGELT,M.SUNDSTROM,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,A.BOCHKAREV,S.DHE-PAGANONTITL STRUCTURE OF THE HUMAN ISOPENTENYL-DIPHOSPHATETITL 2 DELTA-ISOMERASE 2.REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 227 |
| Number Of SNVs | 78 |
| Number Of Permutations | 30746 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.021 |
| p-value | 0.528 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:1070649 | N>K | A:5 | (23.42, 24.95, 31.88) | |
| 10:1070639 | V>I | A:9 | (18.72, 25.81, 24.82) | |
| 10:1070629 | R>P | A:12 | (13.00, 23.00, 17.27) | |
| 10:1070630 | COSM914606 | R>C | A:12 | (13.00, 23.00, 17.27) |
| 10:1070617 | rs561752685 | R>H | A:16 | (19.02, 19.78, 16.04) |
| 10:1070618 | rs148384127 | R>C | A:16 | (19.02, 19.78, 16.04) |
| 10:1070600 | rs531514088 | I>F | A:22 | (29.53, 12.23, 9.43) |
| 10:1070591 | D>N | A:25 | (39.97, 11.18, 9.33) | |
| 10:1070587 | E>G | A:26 | (43.15, 14.96, 10.41) | |
| 10:1070588 | E>K | A:26 | (43.15, 14.96, 10.41) | |
| 10:1070582 | rs367599928 | D>Y | A:28 | (37.05, 13.75, 4.93) |
| 10:1070577 | K>N | A:29 | (38.51, 9.54, 4.82) | |
| 10:1070572 | I>T | A:31 | (35.77, 6.94, 11.31) | |
| 10:1070570 | G>R | A:32 | (31.48, 7.27, 11.89) | |
| 10:1070564 | D>N | A:34 | (28.61, 10.50, 17.58) | |
| 10:1070560 | T>N | A:35 | (25.81, 12.63, 18.94) | |
| 10:1070561 | T>P | A:35 | (25.81, 12.63, 18.94) | |
| 10:1070553 | R>S | A:37 | (24.73, 16.19, 23.66) | |
| 10:1070552 | N>D | A:38 | (29.04, 13.51, 21.93) | |
| 10:1070548 | rs139582566 | C>Y | A:39 | (30.59, 16.22, 18.28) |
| 10:1070545 | H>R | A:40 | (29.55, 19.98, 18.89) | |
| 10:1070537 | rs61738901 | E>K | A:43 | (34.49, 16.51, 27.21) |
| 10:1070530 | rs150982335 | I>T | A:45 | (36.92, 18.24, 20.68) |
| 10:1070528 | rs554400657 | E>K | A:46 | (40.80, 18.43, 23.25) |
| 10:1068707 | H>Y | A:51 | (32.27, 17.23, 13.15) | |
| 10:1068695 | rs530413279 | S>G | A:55 | (30.00, 26.72, 5.52) |
| 10:1068692 | COSM1345645 | V>I | A:56 | (26.85, 28.58, 3.16) |
| 10:1068674 | K>E | A:62 | (23.08, 43.84, -6.54) | |
| 10:1068667 | R>Q | A:64 | (24.59, 43.42, -0.28) | |
| 10:1068659 | I>L | A:67 | (25.44, 37.76, 7.63) | |
| 10:1068655 | rs376818017 | Q>R | A:68 | (22.65, 33.70, 9.98) |
| 10:1068653 | rs145615127 | Q>E | A:69 | (22.11, 37.14, 14.85) |
| 10:1068636 | rs373068963 | K>N | A:74 | (21.84, 27.70, 18.63) |
| 10:1068631 | T>M | A:76 | (27.03, 26.68, 19.67) | |
| 10:1068626 | P>S | A:78 | (24.83, 31.95, 21.39) | |
| 10:1068623 | rs369450470 | G>R | A:79 | (24.20, 35.58, 18.96) |
| 10:1066828 | T>I | A:82 | (27.63, 33.77, 11.07) | |
| 10:1066823 | rs144110388 | S>P | A:84 | (24.75, 32.12, 5.38) |
| 10:1066819 | C>Y | A:85 | (24.44, 28.16, 6.66) | |
| 10:1066820 | rs533132985 | C>R | A:85 | (24.44, 28.16, 6.66) |
| 10:1066807 | P>L | A:89 | (26.48, 16.20, 7.24) | |
| 10:1066803 | L>F | A:90 | (22.83, 13.74, 8.87) | |
| 10:1066796 | rs564278466 | P>S | A:93 | (22.01, 7.22, 2.90) |
| 10:1066775 | rs151186586 | D>N | A:100 | (30.60, 15.68, -7.01) |
| 10:1066768 | rs201036424 | I>T | A:102 | (25.74, 15.39, -3.37) |
| 10:1066765 | G>A | A:103 | (25.71, 15.30, 0.63) | |
| 10:1066743 | rs148678096 | R>S | A:110 | (18.77, 19.52, 5.75) |
| 10:1066741 | rs368608756 COSM1345619 |
R>H | A:111 | (19.61, 23.23, 8.31) |
| 10:1066735 | COSM117007 | Q>R | A:113 | (13.98, 24.38, 3.70) |
| 10:1066720 | rs147142990 | I>T | A:118 | (15.48, 29.11, 1.39) |
| 10:1066717 | P>R | A:119 | (12.51, 27.43, -0.98) | |
| 10:1065723 | rs576808585 | S>P | A:140 | (31.46, 28.61, 22.78) |
| 10:1065705 | COSM683425 | E>Q | A:146 | (32.79, 23.24, 16.48) |
| 10:1065701 | rs367884621 | H>R | A:147 | (37.26, 19.50, 15.59) |
| 10:1065696 | I>L | A:149 | (36.51, 18.50, 8.17) | |
| 10:1065692 | C>F | A:150 | (34.29, 22.65, 6.80) | |
| 10:1065689 | Y>C | A:151 | (32.92, 19.89, 2.85) | |
| 10:1065667 | rs201862890 | N>K | A:158 | (18.12, 36.58, -5.82) |
| 10:1065662 | T>I | A:160 | (12.67, 34.05, -0.36) | |
| 10:1065653 | P>L | A:163 | (13.32, 32.85, 9.10) | |
| 10:1065648 | P>A | A:165 | (12.97, 31.83, 15.37) | |
| 10:1065643 | S>R | A:166 | (15.17, 28.37, 16.95) | |
| 10:1065638 | T>M | A:168 | (17.66, 32.87, 13.07) | |
| 10:1065633 | S>G | A:170 | (19.11, 38.36, 12.63) | |
| 10:1065629 | I>N | A:171 | (19.20, 38.34, 8.50) | |
| 10:1065617 | S>Y | A:175 | (28.85, 44.89, 1.58) | |
| 10:1065603 | rs113442797 | W>R | A:180 | (37.12, 46.00, 6.81) |
| 10:1065589 | E>D | A:184 | (37.81, 46.46, 12.15) | |
| 10:1065581 | COSM123693 | A>E | A:187 | (38.30, 43.47, 17.03) |
| 10:1065557 | rs138472250 | P>L | A:195 | (35.54, 32.26, 14.64) |
| 10:1065555 | W>R | A:196 | (33.00, 29.91, 11.88) | |
| 10:1065542 | rs548356090 COSM3382662 |
I>T | A:200 | (35.61, 32.37, 5.36) |
| 10:1065539 | A>V | A:201 | (36.91, 36.49, 4.62) | |
| 10:1065537 | E>K | A:202 | (40.66, 37.56, 6.31) | |
| 10:1065521 | rs200869545 | R>Q | A:207 | (41.25, 35.07, -3.66) |
| 10:1065522 | COSM1210238 | R>W | A:207 | (41.25, 35.07, -3.66) |
| 10:1065514 | rs138894690 | W>C | A:209 | (32.63, 39.76, -2.36) |
| 10:1065513 | P>S | A:210 | (35.70, 40.41, -7.56) | |
| 10:1065510 | H>Y | A:211 | (36.07, 37.33, -9.54) | |
| 10:1065504 | D>H | A:213 | (30.55, 35.97, -12.58) | |
| 10:1065498 | rs370074580 | V>M | A:215 | (33.68, 31.02, -8.52) |
| 10:1065491 | COSM3358622 | P>L | A:217 | (38.48, 29.62, -11.00) |
| 10:1065488 | F>S | A:218 | (38.77, 31.00, -7.19) | |
| 10:1065463 | rs376276027 | R>S | A:226 | (44.65, 21.59, 7.92) |