General Structure Information
| PDB ID | 1xfd |
| HGNC Gene Label(s) | DPP6 |
| Structure Name | structure of a human a-type potassium channel accelerating factor dppx, a member of the dipeptidyl aminopeptidase family |
| Resolution | 3.0Å |
| Reference | AUTH P.STROP,A.J.BANKOVICH,K.C.HANSEN,K.C.GARCIA,A.T.BRUNGERTITL STRUCTURE OF A HUMAN A-TYPE POTASSIUM CHANNEL INTERACTINGTITL 2 PROTEIN DPPX, A MEMBER OF THE DIPEPTIDYL AMINOPEPTIDASETITL 3 FAMILYREF J.MOL.BIOL. V. 343 1055 2004REFN ISSN 0022-2836PMID 15476821DOI 10.1016/J.JMB.2004.09.003 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 723 |
| Number Of SNVs | 157 |
| Number Of Permutations | 25741 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.03 |
| p-value | 0.115 |
COSMIC
| Number Of Residues | 723 |
| Number Of SNVs | 15 |
| Number Of Permutations | 3722 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.219 |
| p-value | 0.055 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 157 |
| Number Of COSMIC SNVs | 14 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.087 |
| p-value | 0.095 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:154172045 | Q>R | B:127 | (45.52, -12.46, 60.61) | |
| 7:154172053 | K>Q | B:130 | (40.81, -9.01, 53.59) | |
| 7:154172086 | rs571883604 | F>V | B:141 | (48.69, -11.20, 43.28) |
| 7:154172092 | I>L | B:143 | (51.08, -15.74, 36.92) | |
| 7:154172104 | E>K | B:147 | (55.12, -18.84, 26.44) | |
| 7:154237625 | F>L | B:156 | (63.40, -25.41, 26.62) | |
| 7:154237650 | T>R | B:164 | (64.91, -12.07, 27.71) | |
| 7:154237652 | V>M | B:165 | (64.00, -14.70, 24.44) | |
| 7:154237665 | N>T | B:169 | (70.58, -27.47, 26.11) | |
| 7:154237671 | rs376847690 | E>G | B:171 | (71.50, -33.02, 27.02) |
| 7:154237688 | V>I | B:177 | (70.42, -15.06, 24.35) | |
| 7:154237708 | K>N | B:183 | (60.65, -7.48, 22.72) | |
| 7:154237711 | I>M | B:184 | (60.49, -3.06, 24.91) | |
| 7:154263946 | R>K | B:191 | (52.58, -12.62, 18.42) | |
| 7:154263951 | rs186683462 | E>K | B:193 | (57.59, -17.12, 15.46) |
| 7:154263965 | COSM227779 COSM745798 COSM1150638 COSM745797 COSM1150639 |
D>E | B:197 | (66.97, -20.83, 10.61) |
| 7:154263969 | E>Q | B:199 | (69.45, -17.23, 11.04) | |
| 7:154263981 | F>L | B:203 | (59.14, -9.25, 16.50) | |
| 7:154263990 | N>D | B:206 | (48.68, -3.92, 18.09) | |
| 7:154263991 | N>S | B:206 | (48.68, -3.92, 18.09) | |
| 7:154263993 | V>M | B:207 | (48.02, 0.90, 17.24) | |
| 7:154429534 | rs377383685 | Y>H | B:211 | (46.07, -8.20, 24.58) |
| 7:154519496 | N>S | B:261 | (44.85, -12.90, -0.10) | |
| 7:154519513 | H>Y | B:267 | (65.36, -16.10, 1.27) | |
| 7:154519514 | H>L | B:267 | (65.36, -16.10, 1.27) | |
| 7:154519519 | COSM145336 COSM1144487 COSM600101 |
G>R | B:269 | (64.47, -11.74, 0.74) |
| 7:154519528 | A>S | B:272 | (56.13, -11.89, -1.97) | |
| 7:154519534 | R>C | B:274 | (48.47, -12.79, -4.93) | |
| 7:154519535 | R>H | B:274 | (48.47, -12.79, -4.93) | |
| 7:154519537 | rs369305508 | V>M | B:275 | (49.83, -18.36, -3.39) |
| 7:154519546 | rs549158673 | T>P | B:278 | (40.21, -15.95, -3.82) |
| 7:154519589 | L>P | B:292 | (31.03, -20.09, 13.10) | |
| 7:154519592 | Y>C | B:293 | (34.68, -22.59, 10.71) | |
| 7:154561146 | H>Q | B:301 | (41.41, -16.40, 13.44) | |
| 7:154561150 | rs368694178 COSM3305085 COSM3305084 COSM3305083 |
A>T | B:303 | (43.05, -22.14, 8.68) |
| 7:154561163 | COSM1087725 COSM1596891 COSM1087724 |
S>F | B:307 | (53.83, -29.83, 5.03) |
| 7:154561165 | P>T | B:308 | (55.74, -31.98, 7.25) | |
| 7:154561166 | rs537661099 COSM270756 |
P>L | B:308 | (55.74, -31.98, 7.25) |
| 7:154561175 | T>M | B:311 | (56.59, -28.74, -0.02) | |
| 7:154561183 | COSM3305094 COSM3305093 COSM3305092 |
A>T | B:314 | (46.99, -26.46, 3.72) |
| 7:154561192 | rs370802575 COSM145337 COSM1317186 COSM1317185 |
A>T | B:317 | (38.11, -21.91, 2.13) |
| 7:154561199 | N>I | B:319 | (31.95, -18.60, 1.11) | |
| 7:154561207 | rs374450077 COSM3879654 COSM3879653 COSM3879652 |
R>C | B:322 | (24.16, -18.31, 0.13) |
| 7:154561208 | rs368682396 | R>H | B:322 | (24.16, -18.31, 0.13) |
| 7:154561216 | I>V | B:325 | (24.80, -9.37, 7.29) | |
| 7:154561217 | I>T | B:325 | (24.80, -9.37, 7.29) | |
| 7:154561240 | rs147970849 | G>S | B:333 | (32.39, 7.58, 17.22) |
| 7:154561244 | S>F | B:334 | (31.16, 9.46, 14.71) | |
| 7:154561252 | P>T | B:337 | (26.81, 6.72, 14.60) | |
| 7:154561253 | COSM3636615 COSM3636614 COSM3636613 |
P>R | B:337 | (26.81, 6.72, 14.60) |
| 7:154561264 | P>A | B:341 | (29.10, -4.99, 9.10) | |
| 7:154561267 | Y>H | B:342 | (29.29, -9.76, 12.00) | |
| 7:154564555 | A>S | B:347 | (19.59, -20.59, 13.94) | |
| 7:154564575 | S>R | B:353 | (30.97, -22.64, 2.40) | |
| 7:154564588 | COSM3781307 COSM3781306 COSM3781305 |
V>I | B:358 | (46.62, -28.20, -1.34) |
| 7:154564601 | N>S | B:362 | (58.00, -26.01, -4.87) | |
| 7:154564606 | P>S | B:364 | (54.11, -23.75, -10.80) | |
| 7:154564607 | P>R | B:364 | (54.11, -23.75, -10.80) | |
| 7:154564610 | T>I | B:365 | (51.65, -23.62, -7.46) | |
| 7:154564631 | P>L | B:372 | (34.19, -34.29, -0.11) | |
| 7:154564637 | D>A | B:374 | (29.38, -39.02, -0.85) | |
| 7:154564645 | R>W | B:377 | (25.44, -39.83, 6.76) | |
| 7:154585806 | rs369128533 | M>T | B:385 | (40.56, -32.44, 11.82) |
| 7:154585830 | K>R | B:393 | (48.96, -39.14, 3.34) | |
| 7:154585856 | rs146713592 | A>S | B:402 | (23.68, -31.89, 12.73) |
| 7:154585865 | V>M | B:405 | (27.63, -37.73, 11.11) | |
| 7:154585866 | V>E | B:405 | (27.63, -37.73, 11.11) | |
| 7:154585873 | I>M | B:407 | (33.76, -38.82, 8.00) | |
| 7:154585901 | rs536301648 | V>I | B:417 | (41.22, -38.65, -3.48) |
| 7:154587561 | COSM228473 | E>K | B:423 | (31.90, -43.68, 10.19) |
| 7:154587568 | E>G | B:425 | (26.52, -42.55, 13.76) | |
| 7:154593074 | P>A | B:437 | (45.10, -37.65, 14.64) | |
| 7:154593099 | COSM3879670 COSM3879669 COSM3879668 |
K>M | B:445 | (50.02, -47.57, 13.65) |
| 7:154593107 | F>I | B:448 | (41.24, -40.52, 17.00) | |
| 7:154593128 | G>R | B:455 | (29.76, -50.87, 29.21) | |
| 7:154593135 | R>Q | B:457 | (26.71, -46.03, 34.79) | |
| 7:154593158 | V>M | B:465 | (44.64, -48.14, 17.46) | |
| 7:154593165 | S>L | B:467 | (45.61, -49.09, 10.26) | |
| 7:154595604 | I>L | B:480 | (45.15, -48.37, 24.42) | |
| 7:154595610 | S>T | B:482 | (39.59, -48.38, 29.83) | |
| 7:154595613 | G>R | B:483 | (36.76, -46.44, 31.72) | |
| 7:154595625 | V>M | B:487 | (41.38, -39.28, 27.64) | |
| 7:154595646 | rs199958650 | D>N | B:494 | (57.99, -43.65, 21.59) |
| 7:154595654 | K>N | B:496 | (61.41, -45.98, 18.64) | |
| 7:154595659 | N>S | B:498 | (55.62, -49.53, 24.31) | |
| 7:154595664 | I>F | B:500 | (50.82, -43.04, 24.49) | |
| 7:154595665 | I>T | B:500 | (50.82, -43.04, 24.49) | |
| 7:154596641 | T>M | B:505 | (40.03, -37.78, 34.40) | |
| 7:154596656 | rs376645809 | R>Q | B:510 | (38.40, -32.68, 41.36) |
| 7:154596674 | S>T | B:516 | (51.92, -43.69, 30.20) | |
| 7:154598712 | rs373181078 COSM160575 COSM3305204 COSM3305203 COSM3305202 |
T>M | B:519 | (51.67, -49.49, 21.73) |
| 7:154598721 | N>S | B:522 | (50.55, -55.11, 28.15) | |
| 7:154598732 | rs182225736 | Q>K | B:526 | (53.69, -45.35, 34.31) |
| 7:154598734 | Q>H | B:526 | (53.69, -45.35, 34.31) | |
| 7:154598760 | N>T | B:535 | (51.06, -27.76, 46.36) | |
| 7:154598803 | rs568066223 | F>L | B:549 | (64.30, -34.58, 27.93) |
| 7:154598804 | F>L | B:550 | (58.44, -34.05, 30.81) | |
| 7:154598814 | rs374046624 | K>M | B:553 | (52.37, -26.62, 32.24) |
| 7:154645511 | rs374211228 | T>M | B:563 | (58.97, -28.27, 35.81) |
| 7:154645516 | H>Y | B:565 | (60.62, -33.55, 34.72) | |
| 7:154645528 | COSM3636630 COSM3636629 COSM3636628 |
D>N | B:569 | (64.00, -40.46, 36.03) |
| 7:154645534 | rs140460765 | K>Q | B:571 | (64.96, -36.25, 37.66) |
| 7:154659740 | K>E | B:584 | (55.35, -12.87, 49.10) | |
| 7:154659746 | I>V | B:586 | (49.27, -16.14, 48.30) | |
| 7:154659750 | N>I | B:587 | (51.49, -16.71, 51.78) | |
| 7:154659756 | rs369921979 | R>Q | B:589 | (47.04, -11.23, 50.92) |
| 7:154659768 | rs377734489 | K>T | B:593 | (39.05, -23.36, 52.97) |
| 7:154659786 | I>T | B:599 | (25.74, -34.22, 45.07) | |
| 7:154659792 | rs368709769 | I>T | B:601 | (20.84, -36.13, 40.55) |
| 7:154664336 | L>V | B:606 | (26.62, -33.65, 40.47) | |
| 7:154664340 | P>L | B:607 | (30.77, -32.31, 40.96) | |
| 7:154664344 | M>I | B:608 | (29.50, -29.28, 44.73) | |
| 7:154664379 | T>I | B:620 | (29.07, -16.85, 61.66) | |
| 7:154664381 | H>N | B:621 | (24.76, -17.49, 59.85) | |
| 7:154664400 | V>A | B:627 | (29.05, -19.05, 40.43) | |
| 7:154667624 | T>S | B:631 | (28.60, -24.54, 28.97) | |
| 7:154667626 | P>T | B:632 | (27.27, -27.52, 27.24) | |
| 7:154667633 | S>N | B:634 | (31.98, -27.50, 30.60) | |
| 7:154667650 | K>E | B:640 | (42.73, -24.59, 37.40) | |
| 7:154667656 | E>K | B:642 | (41.00, -19.30, 39.03) | |
| 7:154667672 | rs546439141 COSM1449557 COSM1449556 COSM1449555 |
T>M | B:647 | (38.75, -14.26, 45.67) |
| 7:154667675 | V>A | B:648 | (37.30, -10.28, 46.47) | |
| 7:154667683 | S>G | B:651 | (38.33, -12.25, 51.36) | |
| 7:154667692 | rs150218787 | G>S | B:654 | (32.48, -12.81, 53.34) |
| 7:154667695 | A>T | B:655 | (31.35, -15.18, 51.14) | |
| 7:154667696 | rs539094310 COSM3715719 COSM3715718 COSM3715717 |
A>V | B:655 | (31.35, -15.18, 51.14) |
| 7:154667716 | G>S | B:662 | (25.85, -31.07, 35.98) | |
| 7:154667740 | T>A | B:670 | (28.23, -39.54, 26.61) | |
| 7:154667743 | K>Q | B:671 | (24.47, -41.17, 30.21) | |
| 7:154667744 | K>T | B:671 | (24.47, -41.17, 30.21) | |
| 7:154667752 | H>Y | B:674 | (24.55, -36.44, 25.29) | |
| 7:154667755 | rs377194563 | E>K | B:675 | (20.81, -36.09, 30.31) |
| 7:154667764 | R>W | B:678 | (15.23, -31.51, 22.15) | |
| 7:154667765 | rs369842391 | R>Q | B:678 | (15.23, -31.51, 22.15) |
| 7:154667767 | COSM1087741 COSM1596886 COSM1087740 |
R>W | B:679 | (16.31, -32.03, 28.46) |
| 7:154667768 | R>Q | B:679 | (16.31, -32.03, 28.46) | |
| 7:154667782 | rs374596075 | E>K | B:684 | (20.77, -27.16, 33.56) |
| 7:154667806 | COSM1087743 COSM1596885 COSM1087742 |
V>M | B:692 | (21.41, -24.26, 46.44) |
| 7:154667810 | R>Q | B:693 | (17.61, -26.85, 47.56) | |
| 7:154672600 | rs374629893 | T>M | B:694 | (22.55, -29.12, 49.75) |
| 7:154672623 | D>H | B:702 | (21.79, -16.62, 55.65) | |
| 7:154672627 | R>K | B:703 | (15.93, -18.28, 52.95) | |
| 7:154672630 | T>M | B:704 | (18.20, -14.22, 53.89) | |
| 7:154672632 | COSM3879685 COSM3879684 COSM3879683 |
R>C | B:705 | (22.89, -12.88, 53.36) |
| 7:154672633 | rs550563959 | R>H | B:705 | (22.89, -12.88, 53.36) |
| 7:154672635 | rs370422755 COSM1177831 COSM387865 COSM1177830 COSM1177829 |
V>M | B:706 | (20.77, -16.40, 48.27) |
| 7:154672639 | A>G | B:707 | (23.09, -15.20, 45.09) | |
| 7:154672641 | V>M | B:708 | (22.90, -15.87, 41.02) | |
| 7:154677343 | D>N | B:712 | (28.23, -16.14, 28.53) | |
| 7:154677350 | G>D | B:714 | (25.42, -18.46, 32.47) | |
| 7:154677368 | Y>S | B:720 | (15.75, -20.94, 33.51) | |
| 7:154677373 | L>F | B:722 | (15.69, -15.83, 39.56) | |
| 7:154677415 | G>S | B:736 | (21.04, -11.36, 40.24) | |
| 7:154677433 | I>V | B:742 | (21.85, -16.62, 25.78) | |
| 7:154679391 | A>T | B:751 | (26.81, -24.35, 15.84) | |
| 7:154679392 | rs370708312 | A>V | B:751 | (26.81, -24.35, 15.84) |
| 7:154679442 | E>K | B:768 | (9.32, -21.50, 22.25) | |
| 7:154681000 | rs552805661 | R>G | B:775 | (11.65, -19.35, 34.82) |
| 7:154681001 | COSM3305309 COSM3305308 COSM3305307 |
R>Q | B:775 | (11.65, -19.35, 34.82) |
| 7:154681009 | rs188276022 | A>T | B:778 | (8.07, -14.75, 38.00) |
| 7:154681046 | T>I | B:790 | (26.88, -2.69, 22.86) | |
| 7:154681051 | COSM160574 COSM1449562 COSM1449561 |
D>N | B:792 | (28.70, -8.87, 21.92) |
| 7:154681175 | COSM228474 | H>N | B:796 | (24.39, -10.75, 19.01) |
| 7:154681220 | rs199787820 | K>E | B:811 | (4.83, -5.12, 35.08) |
| 7:154681227 | rs370041738 | N>S | B:813 | (12.01, -5.10, 38.95) |
| 7:154684055 | rs368472806 COSM3879700 COSM3879699 COSM3879698 |
D>E | B:821 | (30.88, 0.73, 21.05) |
| 7:154684068 | F>L | B:826 | (35.43, -7.17, 28.84) | |
| 7:154684077 | S>P | B:829 | (42.96, -4.09, 32.40) | |
| 7:154684082 | COSM745760 COSM1150658 COSM745759 |
S>R | B:830 | (40.79, -0.93, 32.63) |
| 7:154684087 | K>I | B:832 | (38.65, -7.64, 33.37) | |
| 7:154684093 | H>R | B:834 | (34.25, -0.89, 35.63) | |
| 7:154684101 | COSM600523 COSM1144492 COSM600522 |
R>W | B:837 | (35.72, -2.45, 41.13) |
| 7:154684111 | I>N | B:840 | (32.17, -6.64, 43.76) | |
| 7:154684114 | rs190157120 | N>S | B:841 | (29.87, -2.96, 44.02) |
| 7:154684125 | E>K | B:845 | (25.16, -3.46, 48.34) | |
| 7:154684127 | E>D | B:845 | (25.16, -3.46, 48.34) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:154172068 | COSM1158949 | D>N | B:135 | (45.53, -7.39, 45.18) |
| 7:154172095 | COSM3715715 | H>Y | B:144 | (55.26, -14.27, 35.25) |
| 7:154237627 | COSM1087707 | F>L | B:156 | (63.40, -25.41, 26.62) |
| 7:154519519 | COSM1144487 | G>W | B:269 | (64.47, -11.74, 0.74) |
| 7:154561150 | COSM3305085 | A>T | B:303 | (43.05, -22.14, 8.68) |
| 7:154561175 | COSM4411168 | T>M | B:311 | (56.59, -28.74, -0.02) |
| 7:154561183 | COSM3305092 | A>T | B:314 | (46.99, -26.46, 3.72) |
| 7:154561192 | COSM145337 | A>T | B:317 | (38.11, -21.91, 2.13) |
| 7:154564567 | COSM3662780 | N>D | B:351 | (26.21, -22.14, 7.78) |
| 7:154564626 | COSM3305115 | M>I | B:370 | (41.06, -31.91, -0.91) |
| 7:154585835 | COSM3879660 | A>T | B:395 | (43.78, -35.58, 7.96) |
| 7:154585878 | COSM3305127 | T>I | B:409 | (39.60, -38.55, 5.72) |
| 7:154587561 | COSM228473 | E>K | B:423 | (31.90, -43.68, 10.19) |
| 7:154593119 | COSM3718697 | I>L | B:452 | (34.79, -46.42, 24.09) |
| 7:154595578 | COSM3879673 | N>S | B:471 | (40.91, -52.25, 4.60) |
| 7:154667696 | COSM3715718 | A>V | B:655 | (31.35, -15.18, 51.14) |
| 7:154667767 | COSM1087740 | R>W | B:679 | (16.31, -32.03, 28.46) |
| 7:154677439 | COSM3715721 | D>H | B:744 | (16.41, -16.83, 21.90) |
| 7:154681051 | COSM160574 | D>N | B:792 | (28.70, -8.87, 21.92) |