General Structure Information
| PDB ID | 3zdq |
| HGNC Gene Label(s) | ABCB10 |
| Structure Name | structure of the human mitochondrial abc transporter, abcb10 (nucleotide-free form) |
| Resolution | 2.85Å |
| Reference | AUTH C.A.SHINTRE,A.C.W.PIKE,Q.LI,J.KIM,A.J.BARR,S.GOUBIN,AUTH 2 L.SHRESTHA,J.YANG,G.BERRIDGE,J.ROSS,P.J.STANSFELD,AUTH 3 M.S.P.SANSOM,A.M.EDWARDS,C.BOUNTRA,B.D.MARSDEN,F.VON DELFT,AUTH 4 A.N.BULLOCK,O.GILEADI,N.A.BURGESS-BROWN,E.P.CARPENTERTITL STRUCTURES OF ABCB10, A HUMAN ATP-BINDING CASSETTETITL 2 TRANSPORTER IN APO- AND NUCLEOTIDE-BOUND STATESREF PROC.NATL.ACAD.SCI.USA V. 110 9710 2013REFN ISSN 0027-8424PMID 23716676DOI 10.1073/PNAS.1217042110 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 570 |
| Number Of SNVs | 132 |
| Number Of Permutations | 82901 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.147 |
| p-value | 0.082 |
COSMIC
| Number Of Residues | 570 |
| Number Of SNVs | 8 |
| Number Of Permutations | 3774 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.036 |
| p-value | 0.823 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 132 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | -0.102 |
| p-value | 0.799 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:229685178 | rs555548953 | A>V | A:174 | (-63.34, 62.89, 6.72) |
| 1:229685163 | T>M | A:179 | (-64.96, 70.13, 2.64) | |
| 1:229685160 | M>T | A:180 | (-67.19, 71.76, 7.01) | |
| 1:229685133 | P>L | A:189 | (-60.61, 86.48, 4.18) | |
| 1:229685134 | P>S | A:189 | (-60.61, 86.48, 4.18) | |
| 1:229685103 | rs554427813 | I>T | A:199 | (-63.61, 99.92, 11.42) |
| 1:229685083 | D>N | A:206 | (-70.09, 101.74, 20.14) | |
| 1:229685075 | S>R | A:208 | (-68.92, 96.86, 21.83) | |
| 1:229685073 | rs141170788 | D>G | A:209 | (-72.91, 94.85, 21.58) |
| 1:229685074 | rs200713703 | D>N | A:209 | (-72.91, 94.85, 21.58) |
| 1:229685061 | rs199764924 | R>H | A:213 | (-73.80, 90.16, 20.18) |
| 1:229685062 | rs371609133 | R>C | A:213 | (-73.80, 90.16, 20.18) |
| 1:229685047 | rs149118203 | L>F | A:218 | (-66.11, 83.41, 16.11) |
| 1:229685025 | G>D | A:225 | (-63.90, 72.85, 14.26) | |
| 1:229685020 | A>T | A:227 | (-64.81, 68.75, 16.59) | |
| 1:229685013 | N>S | A:229 | (-60.47, 69.06, 12.87) | |
| 1:229685005 | R>C | A:232 | (-59.62, 65.33, 9.75) | |
| 1:229684996 | L>F | A:235 | (-62.06, 59.09, 10.77) | |
| 1:229684981 | G>C | A:240 | (-54.58, 53.57, 7.81) | |
| 1:229683444 | rs561642522 | Q>H | A:241 | (-54.05, 52.64, 11.84) |
| 1:229683442 | rs541827297 | R>H | A:242 | (-58.88, 50.01, 10.21) |
| 1:229683443 | rs17584642 | R>C | A:242 | (-58.88, 50.01, 10.21) |
| 1:229683440 | rs370533346 | I>V | A:243 | (-54.96, 50.33, 4.97) |
| 1:229683413 | F>L | A:252 | (-45.00, 37.74, 7.07) | |
| 1:229683404 | rs200640148 | I>V | A:255 | (-42.55, 37.01, 2.18) |
| 1:229683389 | V>I | A:260 | (-35.35, 29.08, -0.49) | |
| 1:229683380 | rs375961531 | F>L | A:263 | (-36.04, 34.01, 0.77) |
| 1:229683370 | T>S | A:266 | (-33.94, 38.56, -1.63) | |
| 1:229683367 | rs149933923 | R>H | A:267 | (-30.36, 42.28, 0.11) |
| 1:229683364 | T>I | A:268 | (-33.76, 40.18, 5.17) | |
| 1:229683365 | T>A | A:268 | (-33.76, 40.18, 5.17) | |
| 1:229683351 | I>M | A:272 | (-37.88, 44.28, 6.93) | |
| 1:229683346 | rs540465563 | R>H | A:274 | (-40.21, 45.90, -0.05) |
| 1:229683316 | COSM397097 | R>L | A:284 | (-48.25, 57.71, 5.03) |
| 1:229683317 | R>C | A:284 | (-48.25, 57.71, 5.03) | |
| 1:229683299 | L>V | A:290 | (-55.89, 61.74, -0.64) | |
| 1:229683278 | G>R | A:297 | (-56.85, 72.16, -4.07) | |
| 1:229683263 | rs373845536 | V>I | A:302 | (-61.47, 78.82, -3.40) |
| 1:229683257 | I>L | A:304 | (-57.26, 81.32, -7.78) | |
| 1:229683247 | rs370233527 | M>T | A:307 | (-57.39, 86.31, -6.31) |
| 1:229678114 | rs148378636 | F>S | A:309 | (-65.35, 88.18, -6.19) |
| 1:229678115 | F>L | A:309 | (-65.35, 88.18, -6.19) | |
| 1:229678108 | S>L | A:311 | (-59.24, 91.91, -8.48) | |
| 1:229678106 | P>S | A:312 | (-60.08, 90.99, -11.97) | |
| 1:229678102 | rs200265567 | N>T | A:313 | (-56.08, 94.07, -12.41) |
| 1:229678103 | N>H | A:313 | (-56.08, 94.07, -12.41) | |
| 1:229678082 | COSM388906 | S>R | A:320 | (-48.12, 87.70, -15.21) |
| 1:229678069 | P>L | A:324 | (-42.11, 83.95, -15.13) | |
| 1:229678061 | rs376861502 | I>V | A:327 | (-40.06, 78.91, -15.05) |
| 1:229678057 | rs200635064 | I>T | A:328 | (-36.22, 81.52, -13.68) |
| 1:229678055 | A>T | A:329 | (-36.51, 78.91, -9.91) | |
| 1:229678039 | rs138468815 | R>Q | A:334 | (-34.35, 71.20, -12.42) |
| 1:229678034 | L>I | A:336 | (-28.68, 73.68, -6.13) | |
| 1:229678030 | rs138708587 | R>Q | A:337 | (-32.21, 69.36, -7.53) |
| 1:229678021 | T>I | A:340 | (-25.93, 68.67, -4.07) | |
| 1:229678018 | rs151011321 | K>T | A:341 | (-25.00, 65.04, -6.45) |
| 1:229676496 | rs202102593 | A>T | A:354 | (-13.75, 54.46, 5.77) |
| 1:229676486 | R>H | A:357 | (-9.69, 50.99, 3.91) | |
| 1:229676468 | T>I | A:363 | (-5.27, 44.33, 6.24) | |
| 1:229676460 | A>T | A:366 | (-0.23, 44.44, 8.32) | |
| 1:229676454 | rs535915305 | G>R | A:368 | (1.47, 50.07, 7.51) |
| 1:229676444 | M>T | A:371 | (-0.53, 57.52, 8.60) | |
| 1:229676435 | I>N | A:374 | (-5.13, 58.89, 7.96) | |
| 1:229676433 | rs538359491 | E>K | A:375 | (-2.21, 60.94, 4.51) |
| 1:229676421 | S>R | A:379 | (-7.42, 64.03, 0.30) | |
| 1:229676410 | D>E | A:382 | (-9.83, 68.26, 1.81) | |
| 1:229676393 | A>G | A:388 | (-19.33, 72.41, -0.63) | |
| 1:229676376 | rs143346649 | A>T | A:394 | (-25.39, 78.46, -5.37) |
| 1:229676373 | rs377673380 | R>W | A:395 | (-28.12, 76.22, -1.43) |
| 1:229675329 | S>A | A:405 | (-38.36, 87.68, -6.16) | |
| 1:229675326 | G>R | A:406 | (-40.98, 87.69, -3.41) | |
| 1:229675313 | V>G | A:410 | (-45.60, 91.21, -2.21) | |
| 1:229675314 | COSM210266 | V>M | A:410 | (-45.60, 91.21, -2.21) |
| 1:229675279 | rs554499499 | M>I | A:421 | (-56.87, 101.92, -2.83) |
| 1:229675272 | rs376871639 | A>P | A:424 | (-61.75, 103.92, -6.53) |
| 1:229675268 | H>P | A:425 | (-60.63, 101.05, -9.40) | |
| 1:229675269 | H>Y | A:425 | (-60.63, 101.05, -9.40) | |
| 1:229675265 | rs371876768 | M>R | A:426 | (-59.51, 98.58, -4.48) |
| 1:229675260 | COSM1195756 | V>M | A:428 | (-58.45, 98.66, 2.81) |
| 1:229675234 | M>I | A:436 | (-55.80, 87.38, 3.30) | |
| 1:229675236 | rs375758793 | M>V | A:436 | (-55.80, 87.38, 3.30) |
| 1:229667460 | rs139689788 | S>L | A:453 | (-43.60, 64.25, -3.66) |
| 1:229667427 | R>H | A:464 | (-41.10, 48.96, -3.67) | |
| 1:229667415 | L>P | A:468 | (-43.60, 40.81, -2.97) | |
| 1:229667416 | L>V | A:468 | (-43.60, 40.81, -2.97) | |
| 1:229667412 | L>P | A:469 | (-48.74, 41.05, -2.68) | |
| 1:229667404 | rs72751738 | E>Q | A:472 | (-47.23, 32.51, -7.80) |
| 1:229667386 | N>D | A:478 | (-50.19, 23.62, 1.44) | |
| 1:229667383 | rs192614060 | E>K | A:479 | (-49.89, 21.81, -3.95) |
| 1:229666140 | N>S | A:484 | (-51.42, 5.62, 3.93) | |
| 1:229666124 | Q>H | A:489 | (-42.65, 2.22, 6.02) | |
| 1:229666107 | K>M | A:495 | (-33.73, 7.76, -8.85) | |
| 1:229666108 | rs143054600 | K>E | A:495 | (-33.73, 7.76, -8.85) |
| 1:229666102 | V>M | A:497 | (-29.71, 13.96, -8.71) | |
| 1:229666072 | rs374024594 | V>M | A:507 | (-20.87, 25.35, -8.72) |
| 1:229666059 | Q>R | A:511 | (-22.86, 15.79, -12.03) | |
| 1:229666056 | rs556156338 | D>G | A:512 | (-25.85, 10.96, -11.96) |
| 1:229666042 | rs137896558 | I>V | A:517 | (-31.87, 5.64, 2.01) |
| 1:229666038 | COSM905270 | P>L | A:518 | (-33.12, 1.64, 3.26) |
| 1:229666035 | S>L | A:519 | (-36.61, 1.46, 6.19) | |
| 1:229666023 | rs144786024 | T>M | A:523 | (-26.87, 5.67, 5.53) |
| 1:229666015 | V>L | A:526 | (-18.37, 9.85, 3.31) | |
| 1:229666008 | rs534026214 | P>R | A:528 | (-14.78, 15.62, 0.19) |
| 1:229665993 | K>R | A:533 | (-21.81, 15.80, 2.69) | |
| 1:229665988 | rs201665849 | T>A | A:535 | (-27.11, 19.92, -0.58) |
| 1:229665958 | rs35698797 | D>N | A:545 | (-36.79, 20.89, -7.04) |
| 1:229663050 | I>V | A:551 | (-36.03, 12.90, -4.53) | |
| 1:229663025 | rs372912506 | R>H | A:559 | (-41.76, 16.42, -8.20) |
| 1:229663026 | rs188888716 | R>C | A:559 | (-41.76, 16.42, -8.20) |
| 1:229663010 | V>G | A:564 | (-45.87, 20.85, 5.05) | |
| 1:229661847 | S>F | A:581 | (-35.61, 35.08, 20.30) | |
| 1:229661839 | COSM1320405 | I>V | A:584 | (-36.08, 26.95, 26.27) |
| 1:229661831 | E>D | A:586 | (-41.74, 29.17, 22.74) | |
| 1:229661820 | Y>F | A:590 | (-41.03, 25.61, 15.88) | |
| 1:229661818 | G>C | A:591 | (-41.90, 20.27, 16.67) | |
| 1:229661808 | D>A | A:594 | (-50.30, 22.36, 17.75) | |
| 1:229661794 | T>A | A:599 | (-48.13, 19.48, 27.56) | |
| 1:229661791 | A>T | A:600 | (-45.19, 20.61, 30.26) | |
| 1:229661778 | Q>R | A:604 | (-40.23, 17.30, 31.64) | |
| 1:229661776 | R>G | A:605 | (-40.71, 12.88, 26.92) | |
| 1:229661769 | A>V | A:607 | (-35.60, 17.22, 27.92) | |
| 1:229661763 | V>A | A:609 | (-34.48, 11.88, 26.24) | |
| 1:229661761 | rs532293063 | A>T | A:610 | (-31.93, 15.21, 25.27) |
| 1:229661757 | rs563275826 | N>S | A:611 | (-29.40, 14.61, 28.17) |
| 1:229661746 | F>V | A:615 | (-29.18, 22.89, 30.03) | |
| 1:229661740 | R>W | A:617 | (-35.26, 21.98, 35.74) | |
| 1:229661699 | rs369960601 | K>N | A:630 | (-32.51, 39.93, 20.77) |
| 1:229661695 | V>I | A:632 | (-29.48, 33.43, 26.88) | |
| 1:229661689 | L>F | A:634 | (-26.97, 28.37, 24.62) | |
| 1:229657361 | rs377051670 | A>V | A:643 | (-32.47, 20.18, 18.73) |
| 1:229657362 | A>T | A:643 | (-32.47, 20.18, 18.73) | |
| 1:229654612 | I>T | A:654 | (-36.90, 10.36, 8.00) | |
| 1:229654610 | COSM905264 | L>I | A:655 | (-32.89, 11.61, 11.45) |
| 1:229654156 | A>T | A:663 | (-17.09, 21.60, 18.01) | |
| 1:229654146 | A>V | A:666 | (-15.92, 16.16, 27.38) | |
| 1:229654143 | rs141486923 | E>G | A:667 | (-19.01, 17.31, 28.86) |
| 1:229654144 | E>K | A:667 | (-19.01, 17.31, 28.86) | |
| 1:229654137 | E>A | A:669 | (-19.68, 14.82, 23.55) | |
| 1:229654120 | rs373579061 | A>T | A:675 | (-29.16, 11.78, 22.80) |
| 1:229654098 | rs201773661 | G>E | A:682 | (-36.13, 3.74, 14.75) |
| 1:229654092 | rs117077784 | T>M | A:684 | (-34.67, 6.34, 8.32) |
| 1:229654081 | I>F | A:688 | (-23.25, 14.12, 7.20) | |
| 1:229654060 | I>V | A:695 | (-18.51, 5.27, 9.54) | |
| 1:229654053 | rs115488729 | N>S | A:697 | (-22.70, 1.01, 13.77) |
| 1:229654039 | rs546462477 | A>T | A:702 | (-21.61, 6.66, 1.00) |
| 1:229654026 | Q>R | A:706 | (-16.48, 15.45, -8.17) | |
| 1:229654008 | rs144991345 | Y>C | A:712 | (-21.41, 1.45, -1.86) |
| 1:229654000 | rs377159208 | H>D | A:715 | (-15.91, 0.64, 7.05) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:229683401 | COSM425548 | L>V | A:256 | (-43.20, 33.02, 4.81) |
| 1:229676432 | COSM1626883 | E>G | A:375 | (-2.21, 60.94, 4.51) |
| 1:229675222 | COSM533303 | W>C | A:440 | (-55.64, 80.39, 2.63) |
| 1:229667406 | COSM1339940 | R>I | A:471 | (-43.03, 35.79, -6.42) |
| 1:229666152 | COSM308753 | G>V | A:480 | (-50.66, 17.65, -2.11) |
| 1:229666080 | COSM1339938 | R>H | A:504 | (-23.96, 29.18, -7.75) |
| 1:229666038 | COSM905270 | P>L | A:518 | (-33.12, 1.64, 3.26) |
| 1:229657367 | COSM3671661 | R>L | A:641 | (-28.05, 18.95, 24.78) |