General Structure Information
| PDB ID | 4hpf |
| HGNC Gene Label(s) | KCNU1 |
| Structure Name | structure of the human slo3 gating ring |
| Resolution | 3.4Å |
| Reference | AUTH M.D.LEONETTI,P.YUAN,Y.HSIUNG,R.MACKINNONTITL FUNCTIONAL AND STRUCTURAL ANALYSIS OF THE HUMAN SLO3 PH- ANDTITL 2 VOLTAGE-GATED K+ CHANNEL.REF PROC.NATL.ACAD.SCI.USA V. 109 19274 2012REFN ISSN 0027-8424PMID 23129643DOI 10.1073/PNAS.1215078109 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 548 |
| Number Of SNVs | 160 |
| Number Of Permutations | 64077 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.022 |
| p-value | 0.906 |
COSMIC
| Number Of Residues | 548 |
| Number Of SNVs | 11 |
| Number Of Permutations | 2285 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.091 |
| p-value | 0.553 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 160 |
| Number Of COSMIC SNVs | 11 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.049 |
| p-value | 0.395 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 8:36673202 | K>R | A:331 | (-58.59, -46.22, -15.86) | |
| 8:36675179 | rs368351008 | V>A | A:336 | (-51.56, -31.93, -11.45) |
| 8:36675197 | rs371324890 | V>A | A:342 | (-54.97, -20.33, -15.91) |
| 8:36675211 | rs201465659 COSM302461 COSM302462 |
A>T | A:347 | (-50.14, -24.72, -20.56) |
| 8:36675253 | N>D | A:361 | (-56.71, -41.04, -23.60) | |
| 8:36675254 | N>S | A:361 | (-56.71, -41.04, -23.60) | |
| 8:36675260 | E>G | A:363 | (-58.63, -38.37, -17.19) | |
| 8:36675262 | I>L | A:364 | (-56.23, -34.82, -16.24) | |
| 8:36691109 | rs186130705 | C>R | A:382 | (-65.37, -25.67, -20.26) |
| 8:36691128 | T>M | A:388 | (-61.14, -33.64, -12.43) | |
| 8:36691145 | A>S | A:394 | (-49.71, -32.50, -1.47) | |
| 8:36691149 | M>K | A:395 | (-47.68, -31.87, 1.62) | |
| 8:36691155 | rs577197846 | W>S | A:397 | (-52.32, -40.18, 4.17) |
| 8:36691160 | D>H | A:399 | (-55.62, -34.56, 0.54) | |
| 8:36691175 | A>T | A:404 | (-55.62, -41.95, -5.80) | |
| 8:36692311 | S>Y | A:407 | (-53.67, -45.61, -9.50) | |
| 8:36692331 | I>V | A:414 | (-46.61, -27.43, -12.03) | |
| 8:36692341 | P>L | A:417 | (-46.40, -18.86, -9.36) | |
| 8:36692352 | D>Y | A:421 | (-37.63, -17.22, -3.76) | |
| 8:36692355 | S>P | A:422 | (-36.88, -19.49, -7.20) | |
| 8:36692356 | S>Y | A:422 | (-36.88, -19.49, -7.20) | |
| 8:36692361 | A>T | A:424 | (-38.52, -21.48, -2.35) | |
| 8:36692371 | rs570237282 | I>T | A:427 | (-37.13, -26.11, -1.44) |
| 8:36692377 | N>S | A:429 | (-42.02, -28.26, -5.33) | |
| 8:36692379 | I>V | A:430 | (-38.02, -30.94, -3.27) | |
| 8:36693818 | L>I | A:434 | (-40.35, -36.19, 0.37) | |
| 8:36693830 | N>H | A:438 | (-44.26, -41.27, 2.45) | |
| 8:36693843 | T>I | A:442 | (-44.15, -46.98, -6.74) | |
| 8:36693845 | T>A | A:443 | (-45.42, -43.02, -7.52) | |
| 8:36693859 | I>M | A:447 | (-40.21, -32.04, -10.47) | |
| 8:36693866 | L>M | A:450 | (-37.62, -22.96, -11.47) | |
| 8:36693875 | H>N | A:453 | (-28.83, -25.08, -8.16) | |
| 8:36694311 | V>I | A:456 | (-28.80, -32.27, -6.76) | |
| 8:36694333 | S>T | A:463 | (-37.83, -43.15, -2.70) | |
| 8:36694348 | COSM605203 COSM605202 |
T>S | A:468 | (-39.73, -46.18, -12.03) |
| 8:36694350 | G>R | A:469 | (-39.62, -42.66, -14.29) | |
| 8:36694357 | N>I | A:471 | (-38.06, -37.29, -14.86) | |
| 8:36694366 | C>Y | A:474 | (-35.09, -27.16, -16.43) | |
| 8:36694367 | C>W | A:474 | (-35.09, -27.16, -16.43) | |
| 8:36694374 | COSM605201 COSM605200 |
E>K | A:477 | (-31.15, -27.09, -18.18) |
| 8:36694392 | I>V | A:483 | (-28.76, -20.36, -27.04) | |
| 8:36694395 | COSM3382236 COSM3382235 |
A>T | A:484 | (-25.15, -22.68, -26.64) |
| 8:36694402 | G>V | A:486 | (-25.09, -21.84, -31.53) | |
| 8:36694416 | G>C | A:491 | (-27.12, -23.49, -36.66) | |
| 8:36694421 | L>F | A:492 | (-26.54, -26.71, -33.89) | |
| 8:36694425 | T>A | A:494 | (-32.12, -24.10, -35.94) | |
| 8:36694426 | T>N | A:494 | (-32.12, -24.10, -35.94) | |
| 8:36694445 | F>L | A:500 | (-37.50, -31.30, -30.80) | |
| 8:36694463 | K>N | A:506 | (-50.21, -25.39, -44.95) | |
| 8:36697981 | V>F | A:507 | (-47.25, -23.76, -46.39) | |
| 8:36697984 | M>V | A:508 | (-47.22, -23.00, -50.08) | |
| 8:36697985 | M>R | A:508 | (-47.22, -23.00, -50.08) | |
| 8:36697986 | M>I | A:508 | (-47.22, -23.00, -50.08) | |
| 8:36697999 | COSM3834628 COSM3834627 |
W>G | A:513 | (-34.72, -21.13, -49.44) |
| 8:36698020 | rs376891737 | S>G | A:520 | (-36.62, -30.64, -43.18) |
| 8:36698023 | M>L | A:521 | (-39.04, -28.86, -40.09) | |
| 8:36698027 | K>R | A:522 | (-42.07, -33.27, -42.12) | |
| 8:36698030 | N>S | A:523 | (-37.31, -34.73, -39.85) | |
| 8:36698044 | Q>K | A:528 | (-38.17, -48.35, -32.10) | |
| 8:36698047 | R>C | A:529 | (-37.07, -53.07, -29.62) | |
| 8:36698048 | rs373537074 COSM3374903 COSM3374902 |
R>H | A:529 | (-37.07, -53.07, -29.62) |
| 8:36698053 | S>P | A:531 | (-34.04, -56.41, -34.27) | |
| 8:36698057 | D>A | A:532 | (-33.47, -59.66, -31.96) | |
| 8:36698064 | COSM750535 COSM750534 |
F>L | A:534 | (-29.77, -55.38, -35.91) |
| 8:36698065 | A>T | A:535 | (-27.05, -58.76, -32.32) | |
| 8:36698089 | A>T | A:543 | (-26.31, -47.42, -39.35) | |
| 8:36698466 | rs537110265 | M>L | A:550 | (-34.69, -49.19, -43.36) |
| 8:36698471 | H>Q | A:551 | (-34.11, -44.87, -46.88) | |
| 8:36698487 | I>V | A:557 | (-27.79, -46.65, -28.60) | |
| 8:36698488 | I>T | A:557 | (-27.79, -46.65, -28.60) | |
| 8:36698494 | Y>C | A:559 | (-26.95, -50.96, -23.91) | |
| 8:36698521 | rs201035683 | C>F | A:568 | (-28.38, -47.80, -18.63) |
| 8:36703108 | rs372413355 | L>V | A:572 | (-23.95, -39.64, -29.99) |
| 8:36703109 | rs202100163 | L>P | A:572 | (-23.95, -39.64, -29.99) |
| 8:36703118 | P>L | A:575 | (-17.45, -46.17, -31.21) | |
| 8:36703133 | I>T | A:580 | (-25.71, -53.71, -30.85) | |
| 8:36703141 | N>D | A:583 | (-34.11, -55.76, -26.03) | |
| 8:36703151 | G>E | A:586 | (-33.03, -46.35, -30.64) | |
| 8:36703165 | E>Q | A:591 | (-40.78, -38.09, -41.55) | |
| 8:36703171 | COSM343377 COSM343376 |
P>S | A:593 | (-43.80, -43.86, -36.37) |
| 8:36703178 | rs371296183 | D>A | A:595 | (-40.95, -44.94, -41.39) |
| 8:36703180 | V>I | A:596 | (-38.80, -46.14, -37.12) | |
| 8:36763273 | rs189291258 | S>T | A:686 | (-17.82, -35.62, -13.49) |
| 8:36763280 | rs545781072 | M>I | A:688 | (-18.73, -34.32, -17.84) |
| 8:36763297 | P>Q | A:694 | (-12.81, -20.87, -6.88) | |
| 8:36763300 | T>N | A:695 | (-11.80, -17.16, -9.30) | |
| 8:36763309 | D>G | A:698 | (-12.31, -8.04, -8.36) | |
| 8:36763310 | rs200292779 | D>E | A:698 | (-12.31, -8.04, -8.36) |
| 8:36766833 | COSM3648727 COSM3648726 |
R>Q | A:704 | (-15.47, 0.52, -19.48) |
| 8:36766836 | T>S | A:705 | (-11.00, 2.93, -16.88) | |
| 8:36766839 | rs371063694 | G>V | A:706 | (-7.85, 3.35, -19.51) |
| 8:36766851 | COSM3899869 COSM3899868 |
Y>C | A:710 | (-7.96, -5.05, -24.66) |
| 8:36766859 | rs199759602 COSM261519 COSM261520 |
R>W | A:713 | (-9.45, -12.49, -32.32) |
| 8:36766860 | COSM3716014 COSM3716013 |
R>Q | A:713 | (-9.45, -12.49, -32.32) |
| 8:36766869 | I>T | A:716 | (-18.97, -16.12, -26.97) | |
| 8:36766871 | V>L | A:717 | (-20.63, -11.63, -26.69) | |
| 8:36766896 | rs561315246 | H>R | A:725 | (-35.03, -4.82, -8.28) |
| 8:36766902 | COSM1552771 COSM1552770 |
A>D | A:727 | (-34.82, -12.52, -11.84) |
| 8:36766905 | rs542427403 | P>L | A:728 | (-32.86, -15.41, -11.49) |
| 8:36766907 | M>V | A:729 | (-30.72, -15.52, -16.15) | |
| 8:36766910 | G>R | A:730 | (-29.28, -19.56, -15.63) | |
| 8:36766917 | rs200708777 | R>Q | A:732 | (-24.44, -23.67, -13.72) |
| 8:36766921 | rs544595144 COSM605192 COSM605191 |
N>K | A:733 | (-27.77, -23.54, -17.72) |
| 8:36766931 | rs374136462 | P>S | A:737 | (-22.72, -26.15, -22.61) |
| 8:36766940 | A>S | A:740 | (-17.30, -29.47, -22.49) | |
| 8:36766955 | R>G | A:745 | (-8.35, -25.93, -23.82) | |
| 8:36766970 | D>N | A:750 | (-13.03, -16.39, -24.22) | |
| 8:36766973 | I>V | A:751 | (-17.68, -16.38, -22.14) | |
| 8:36766977 | rs367679127 | V>A | A:752 | (-17.66, -11.51, -22.58) |
| 8:36766982 | COSM3899873 COSM3899872 |
I>V | A:754 | (-22.26, -7.16, -21.76) |
| 8:36766995 | rs371438012 | D>V | A:758 | (-25.37, -5.36, -9.10) |
| 8:36766997 | Y>N | A:759 | (-28.57, -10.18, -12.81) | |
| 8:36767006 | R>G | A:762 | (-27.92, -11.72, -7.89) | |
| 8:36767009 | E>K | A:763 | (-25.94, -15.76, -11.46) | |
| 8:36767024 | rs28608091 | W>R | A:768 | (-17.28, -19.48, -7.45) |
| 8:36767038 | Q>H | A:772 | (-11.44, -18.88, -20.64) | |
| 8:36767040 | I>K | A:773 | (-15.84, -16.56, -17.54) | |
| 8:36767042 | Y>H | A:774 | (-13.23, -13.18, -18.87) | |
| 8:36768449 | G>E | A:778 | (-23.13, -2.75, -18.66) | |
| 8:36768452 | COSM378522 COSM378521 |
C>Y | A:779 | (-25.61, -1.95, -21.72) |
| 8:36768458 | L>H | A:781 | (-28.78, -1.11, -25.48) | |
| 8:36768471 | rs559123518 | D>E | A:785 | (-20.25, -0.80, -23.51) |
| 8:36768479 | COSM3899875 COSM3899874 |
A>V | A:788 | (-15.33, -2.77, -25.21) |
| 8:36768499 | S>P | A:795 | (-17.81, -15.66, -32.76) | |
| 8:36768504 | M>I | A:796 | (-21.99, -15.55, -31.94) | |
| 8:36768511 | V>L | A:799 | (-29.33, -11.37, -27.26) | |
| 8:36768550 | L>M | A:812 | (-43.05, -4.74, -23.27) | |
| 8:36768557 | D>G | A:814 | (-39.00, -9.23, -26.61) | |
| 8:36768569 | I>T | A:818 | (-35.94, -5.81, -30.49) | |
| 8:36768571 | M>L | A:819 | (-33.51, -2.01, -28.98) | |
| 8:36768589 | rs372670243 COSM1099433 COSM1099432 |
G>R | A:825 | (-26.64, -4.64, -36.76) |
| 8:36768597 | L>F | A:827 | (-22.19, -1.78, -35.82) | |
| 8:36776397 | COSM3648737 COSM3648736 |
P>A | A:860 | (-22.06, -12.49, -35.45) |
| 8:36776400 | I>V | A:861 | (-26.74, -12.10, -34.02) | |
| 8:36776409 | E>K | A:864 | (-34.11, -15.21, -26.35) | |
| 8:36780059 | S>Y | A:883 | (-45.37, -8.65, -47.51) | |
| 8:36780074 | N>S | A:888 | (-44.84, -18.32, -37.95) | |
| 8:36780096 | rs372418835 | F>L | A:895 | (-35.86, -20.76, -37.42) |
| 8:36780100 | rs376770164 | T>A | A:897 | (-30.28, -18.60, -40.63) |
| 8:36780101 | rs199629162 COSM1552763 COSM1552762 |
T>M | A:897 | (-30.28, -18.60, -40.63) |
| 8:36780107 | T>I | A:899 | (-30.50, -15.21, -36.44) | |
| 8:36780115 | S>P | A:902 | (-38.23, -19.37, -29.28) | |
| 8:36780118 | rs202006761 | G>S | A:903 | (-39.00, -21.64, -26.35) |
| 8:36780124 | F>L | A:905 | (-40.01, -25.47, -28.54) | |
| 8:36780142 | rs189989959 | A>T | A:911 | (-46.14, -34.26, -22.15) |
| 8:36780146 | COSM1456815 COSM1456814 |
T>M | A:912 | (-42.96, -35.10, -24.20) |
| 8:36788479 | rs16885577 | N>S | A:916 | (-40.93, -40.84, -24.80) |
| 8:36788506 | M>T | A:925 | (-26.97, -35.30, -24.68) | |
| 8:36788515 | T>K | A:928 | (-26.69, -30.07, -21.93) | |
| 8:36788604 | R>G | A:958 | (-11.99, -35.31, -22.18) | |
| 8:36788610 | rs550052033 COSM1099445 |
R>W | A:960 | (-18.27, -36.81, -24.78) |
| 8:36788617 | COSM1255453 COSM1255452 |
K>R | A:962 | (-17.71, -32.85, -30.96) |
| 8:36788644 | T>N | A:971 | (-12.16, -31.04, -44.97) | |
| 8:36788647 | I>N | A:972 | (-11.68, -35.31, -43.54) | |
| 8:36788651 | rs571446352 | L>F | A:973 | (-15.47, -35.07, -45.56) |
| 8:36788652 | S>P | A:974 | (-12.36, -33.81, -49.18) | |
| 8:36788658 | rs150503126 | V>I | A:976 | (-15.17, -38.97, -49.94) |
| 8:36790443 | R>S | A:979 | (-17.40, -35.38, -52.22) | |
| 8:36790448 | T>I | A:981 | (-25.19, -38.20, -52.79) | |
| 8:36790463 | F>Y | A:986 | (-24.23, -41.45, -43.93) | |
| 8:36790465 | rs376274848 | C>R | A:987 | (-21.68, -43.99, -46.10) |
| 8:36790511 | COSM1099449 COSM1099448 |
R>Q | A:1002 | (-27.55, -26.03, -49.46) |
| 8:36793044 | T>N | A:1019 | (-32.84, -31.62, -41.24) | |
| 8:36793047 | R>Q | A:1020 | (-32.38, -37.58, -43.48) | |
| 8:36793055 | N>D | A:1023 | (-30.83, -41.12, -48.95) | |
| 8:36793064 | rs201226836 | K>Q | A:1026 | (-27.90, -32.99, -54.48) |
| 8:36793077 | rs370058532 | S>L | A:1030 | (-20.93, -24.85, -50.91) |
| 8:36793085 | V>L | A:1033 | (-21.99, -31.11, -42.99) | |
| 8:36793089 | F>S | A:1034 | (-24.97, -29.70, -39.46) | |
| 8:36793101 | rs545521708 | P>R | A:1038 | (-15.41, -38.31, -33.23) |
| 8:36793107 | S>N | A:1040 | (-9.52, -37.01, -31.30) | |
| 8:36793112 | A>T | A:1042 | (-8.05, -34.47, -37.39) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 8:36698038 | COSM1456801 | L>M | A:526 | (-39.18, -41.11, -33.88) |
| 8:36698490 | COSM1159116 | E>K | A:558 | (-30.46, -46.41, -24.10) |
| 8:36766833 | COSM3648727 | R>Q | A:704 | (-15.47, 0.52, -19.48) |
| 8:36766859 | COSM261520 | R>W | A:713 | (-9.45, -12.49, -32.32) |
| 8:36766860 | COSM5033412 | R>Q | A:713 | (-9.45, -12.49, -32.32) |
| 8:36766953 | COSM1739473 | T>I | A:744 | (-9.94, -28.89, -26.08) |
| 8:36767024 | COSM3763329 | W>R | A:768 | (-17.28, -19.48, -7.45) |
| 8:36768479 | COSM3899874 | A>V | A:788 | (-15.33, -2.77, -25.21) |
| 8:36768490 | COSM4151069 | E>Q | A:792 | (-15.86, -5.55, -33.50) |
| 8:36780092 | COSM1239203 | A>V | A:894 | (-34.32, -15.95, -39.44) |
| 8:36780112 | COSM1635772 | F>L | A:901 | (-34.41, -19.88, -29.55) |
| 8:36788479 | COSM3982529 | N>S | A:916 | (-40.93, -40.84, -24.80) |