General Structure Information
| PDB ID | 2j5w |
| HGNC Gene Label(s) | CP |
| Structure Name | ceruloplasmin revisited: structural and functional roles of various metal cation binding sites |
| Resolution | 2.8Å |
| Reference | AUTH I.BENTO,C.PEIXOTO,V.N.ZAITSEV,P.F.LINDLEYTITL CERULOPLASMIN REVISITED: STRUCTURAL AND FUNCTIONALTITL 2 ROLES OF VARIOUS METAL CATION-BINDING SITES.REF ACTA CRYSTALLOGR.,SECT.D V. 63 240 2007REFN ISSN 0907-4449PMID 17242517DOI 10.1107/S090744490604947X |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 1029 |
| Number Of SNVs | 280 |
| Number Of Permutations | 48642 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.013 |
| p-value | 0.982 |
ClinVar
| Number Of Residues | 1029 |
| Number Of SNVs | 17 |
| Number Of Permutations | 3737 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.103 |
| p-value | 0.356 |
COSMIC
| Number Of Residues | 1029 |
| Number Of SNVs | 14 |
| Number Of Permutations | 10794 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.077 |
| p-value | 0.475 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 280 |
| Number Of ClinVar SNVs | 17 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.055 |
| p-value | 0.336 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 280 |
| Number Of COSMIC SNVs | 15 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | -0.042 |
| p-value | 0.991 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:148939497 | I>S | A:9 | (173.42, 53.17, 43.37) | |
| 3:148939488 | rs139978529 | T>M | A:12 | (174.66, 43.32, 44.56) |
| 3:148939476 | Y>S | A:16 | (164.77, 37.20, 44.35) | |
| 3:148939474 | A>T | A:17 | (165.32, 32.35, 48.39) | |
| 3:148939468 | D>H | A:19 | (166.76, 28.89, 51.93) | |
| 3:148939463 | H>Q | A:20 | (167.03, 29.09, 56.35) | |
| 3:148939461 | G>E | A:21 | (164.33, 26.54, 56.23) | |
| 3:148939452 | K>R | A:24 | (153.67, 23.81, 53.12) | |
| 3:148939449 | L>R | A:25 | (153.91, 27.43, 51.18) | |
| 3:148939437 | D>V | A:29 | (153.78, 21.06, 44.96) | |
| 3:148939434 | T>M | A:30 | (157.54, 20.67, 47.44) | |
| 3:148930484 | E>K | A:31 | (157.55, 19.13, 43.72) | |
| 3:148930481 | rs150681942 | H>Y | A:32 | (156.14, 24.82, 41.73) |
| 3:148930468 | Y>C | A:36 | (159.51, 30.58, 39.59) | |
| 3:148930449 | D>E | A:42 | (167.75, 27.05, 30.19) | |
| 3:148930444 | I>T | A:44 | (169.21, 32.56, 36.22) | |
| 3:148930445 | I>L | A:44 | (169.21, 32.56, 36.22) | |
| 3:148930432 | rs141532762 | Y>C | A:48 | (168.66, 37.12, 39.63) |
| 3:148930433 | rs201599525 | Y>H | A:48 | (168.66, 37.12, 39.63) |
| 3:148930415 | L>F | A:54 | (172.73, 50.72, 50.09) | |
| 3:148930406 | T>A | A:57 | (177.35, 57.39, 57.48) | |
| 3:148930402 | D>V | A:58 | (179.68, 59.80, 55.43) | |
| 3:148930403 | rs200683433 CM066764 |
D>H | A:58 | (179.68, 59.80, 55.43) |
| 3:148930385 | T>S | A:64 | (176.85, 50.69, 55.49) | |
| 3:148930372 | rs200823208 | P>L | A:68 | (165.83, 46.61, 58.13) |
| 3:148930373 | P>S | A:68 | (165.83, 46.61, 58.13) | |
| 3:148930370 | V>I | A:69 | (165.84, 41.74, 57.61) | |
| 3:148930357 | rs201713774 | F>S | A:73 | (165.13, 44.57, 46.73) |
| 3:148930332 | E>D | A:81 | (157.66, 65.64, 59.97) | |
| 3:148930330 | T>S | A:82 | (154.82, 68.86, 57.36) | |
| 3:148930331 | rs148041351 | T>A | A:82 | (154.82, 68.86, 57.36) |
| 3:148930319 | V>I | A:86 | (164.98, 66.14, 52.69) | |
| 3:148930313 | V>I | A:88 | (168.89, 62.87, 49.08) | |
| 3:148930310 | rs34386552 | H>Y | A:89 | (173.39, 63.78, 50.19) |
| 3:148930304 | K>E | A:91 | (177.92, 58.18, 45.26) | |
| 3:148930285 | rs73866999 | P>H | A:97 | (173.01, 55.57, 34.13) |
| 3:148930253 | Y>N | A:108 | (162.24, 73.67, 43.03) | |
| 3:148930242 | rs563241895 | H>Q | A:111 | (166.02, 69.00, 43.06) |
| 3:148930243 | H>L | A:111 | (166.02, 69.00, 43.06) | |
| 3:148928163 | rs568817035 | A>V | A:114 | (163.19, 62.64, 35.82) |
| 3:148928150 | D>E | A:118 | (161.09, 69.18, 30.58) | |
| 3:148928145 | T>I | A:120 | (164.60, 71.47, 30.89) | |
| 3:148928123 | D>E | A:127 | (168.18, 65.75, 38.13) | |
| 3:148928119 | K>E | A:129 | (171.59, 61.10, 32.78) | |
| 3:148928116 | V>L | A:130 | (173.47, 60.30, 38.02) | |
| 3:148928112 | Y>C | A:131 | (176.38, 59.92, 33.77) | |
| 3:148928104 | rs138646392 | E>K | A:134 | (177.99, 61.76, 38.65) |
| 3:148928100 | rs146101316 | Q>R | A:135 | (177.90, 63.09, 44.29) |
| 3:148928087 | COSM1566651 | M>I | A:139 | (165.93, 70.48, 47.71) |
| 3:148928085 | L>W | A:140 | (163.24, 66.85, 48.85) | |
| 3:148928038 | rs371878954 | V>L | A:156 | (151.43, 58.40, 54.16) |
| 3:148928034 | T>I | A:157 | (152.82, 54.99, 51.69) | |
| 3:148928031 | rs142350562 | R>K | A:158 | (153.67, 58.43, 49.74) |
| 3:148928028 | I>T | A:159 | (157.58, 55.51, 46.39) | |
| 3:148928013 | rs386134123 | I>S | A:164 | (166.41, 56.84, 33.15) |
| 3:148927992 | A>V | A:171 | (163.53, 45.79, 38.00) | |
| 3:148927993 | A>T | A:171 | (163.53, 45.79, 38.00) | |
| 3:148927980 | I>T | A:175 | (162.20, 50.61, 44.80) | |
| 3:148927978 | COSM1419842 CM066766 |
G>R | A:176 | (161.72, 52.98, 47.91) |
| 3:148927974 | rs386134124 CM035016 |
P>L | A:177 | (160.77, 53.49, 51.25) |
| 3:148927972 | L>V | A:178 | (159.12, 58.47, 51.36) | |
| 3:148927954 | D>Y | A:184 | (154.80, 67.21, 65.90) | |
| 3:148927156 | rs200933607 | E>G | A:189 | (162.89, 58.77, 62.57) |
| 3:148927135 | R>Q | A:196 | (156.78, 46.63, 66.09) | |
| 3:148927131 | E>D | A:197 | (157.04, 51.45, 61.81) | |
| 3:148927123 | V>E | A:200 | (155.24, 45.51, 52.36) | |
| 3:148927082 | E>K | A:214 | (172.56, 39.54, 28.77) | |
| 3:148927068 | K>N | A:218 | (176.28, 35.38, 30.19) | |
| 3:148927063 | rs145481253 | Y>F | A:220 | (174.19, 32.97, 37.73) |
| 3:148927060 | C>F | A:221 | (173.54, 30.12, 32.40) | |
| 3:148927061 | C>R | A:221 | (173.54, 30.12, 32.40) | |
| 3:148927051 | P>R | A:224 | (174.49, 30.87, 27.32) | |
| 3:148927033 | rs151311306 | D>A | A:230 | (161.59, 35.85, 23.53) |
| 3:148927023 | D>E | A:233 | (158.65, 28.71, 29.99) | |
| 3:148925398 | rs150303869 | N>S | A:244 | (160.23, 43.36, 50.30) |
| 3:148925392 | Y>F | A:246 | (162.92, 38.20, 50.86) | |
| 3:148925377 | L>P | A:251 | (160.04, 37.85, 54.50) | |
| 3:148925375 | P>S | A:252 | (163.02, 37.91, 57.08) | |
| 3:148925372 | G>R | A:253 | (161.48, 39.55, 60.55) | |
| 3:148925365 | S>F | A:255 | (158.30, 40.09, 64.80) | |
| 3:148925362 | rs371198649 | M>T | A:256 | (154.74, 41.14, 65.97) |
| 3:148925360 | C>R | A:257 | (154.09, 41.66, 70.53) | |
| 3:148925339 | W>R | A:264 | (151.82, 46.19, 58.50) | |
| 3:148925322 | M>I | A:269 | (155.56, 48.17, 41.99) | |
| 3:148925323 | M>T | A:269 | (155.56, 48.17, 41.99) | |
| 3:148925306 | V>M | A:275 | (146.35, 41.98, 40.45) | |
| 3:148925300 | A>T | A:277 | (145.66, 40.40, 47.56) | |
| 3:148925285 | G>R | A:282 | (144.27, 36.32, 61.83) | |
| 3:148925265 | rs543777038 | K>N | A:288 | (141.19, 55.62, 55.27) |
| 3:148925257 | rs202217551 | R>H | A:291 | (137.57, 46.55, 60.34) |
| 3:148925254 | rs141201185 | I>S | A:292 | (140.35, 46.32, 56.00) |
| 3:148925248 | rs144401501 | T>I | A:294 | (141.87, 42.30, 51.56) |
| 3:148925246 | I>V | A:295 | (145.27, 45.40, 51.20) | |
| 3:148925242 | rs370682704 | N>S | A:296 | (143.47, 45.27, 46.71) |
| 3:148925231 | A>T | A:300 | (151.88, 52.45, 42.57) | |
| 3:148925228 | T>A | A:301 | (149.07, 51.23, 45.02) | |
| 3:148925210 | M>V | A:307 | (147.59, 45.38, 62.99) | |
| 3:148925204 | A>P | A:309 | (148.35, 42.56, 67.47) | |
| 3:148925195 | rs376348284 | P>S | A:312 | (148.67, 34.54, 69.44) |
| 3:148925185 | rs373342762 | W>L | A:315 | (148.82, 33.67, 62.08) |
| 3:148925181 | M>I | A:316 | (150.82, 33.63, 55.83) | |
| 3:148925182 | M>K | A:316 | (150.82, 33.63, 55.83) | |
| 3:148925174 | C>S | A:319 | (148.57, 37.18, 47.41) | |
| 3:148925155 | L>R | A:325 | (148.92, 31.78, 46.55) | |
| 3:148924124 | G>S | A:328 | (154.59, 32.12, 46.31) | |
| 3:148924119 | L>F | A:329 | (153.26, 36.20, 46.96) | |
| 3:148924115 | A>T | A:331 | (154.90, 35.85, 54.25) | |
| 3:148924084 | S>Y | A:341 | (148.78, 43.52, 78.96) | |
| 3:148924082 | S>P | A:342 | (145.35, 43.77, 77.34) | |
| 3:148924063 | rs199930098 COSM1419840 |
R>H | A:348 | (136.71, 32.93, 73.99) |
| 3:148924064 | rs34624984 | R>C | A:348 | (136.71, 32.93, 73.99) |
| 3:148924055 | rs137977176 | H>N | A:351 | (124.66, 34.78, 71.30) |
| 3:148924048 | R>T | A:353 | (124.24, 33.06, 65.96) | |
| 3:148924039 | COSM4135348 | Y>F | A:356 | (124.20, 22.45, 61.46) |
| 3:148924031 | rs141270807 | A>T | A:359 | (130.07, 19.34, 50.62) |
| 3:148924019 | I>V | A:363 | (125.14, 18.81, 37.47) | |
| 3:148924012 | N>S | A:365 | (123.41, 25.07, 33.75) | |
| 3:148923997 | G>V | A:370 | (119.87, 28.69, 26.77) | |
| 3:148923994 | I>T | A:371 | (118.38, 31.86, 25.88) | |
| 3:148923989 | rs370460129 | I>F | A:373 | (117.72, 36.77, 28.96) |
| 3:148923980 | rs148237680 | K>E | A:376 | (115.45, 37.01, 23.26) |
| 3:148923972 | rs146229133 | N>K | A:378 | (120.58, 30.41, 21.23) |
| 3:148923958 | rs138344350 | G>A | A:383 | (129.68, 32.53, 16.10) |
| 3:148920003 | G>C | A:393 | (131.50, 18.09, 21.98) | |
| 3:148919979 | Y>H | A:401 | (131.12, 22.60, 33.71) | |
| 3:148919972 | rs200156117 | K>R | A:403 | (130.86, 22.47, 40.43) |
| 3:148919969 | L>Q | A:404 | (132.21, 20.41, 44.92) | |
| 3:148919960 | rs181428197 | R>H | A:407 | (124.26, 23.98, 49.05) |
| 3:148919928 | K>E | A:418 | (117.70, 25.62, 55.78) | |
| 3:148919921 | R>T | A:420 | (118.47, 28.16, 48.69) | |
| 3:148919922 | R>G | A:420 | (118.47, 28.16, 48.69) | |
| 3:148919913 | E>K | A:423 | (115.02, 35.77, 50.88) | |
| 3:148919891 | L>P | A:430 | (126.89, 31.40, 46.33) | |
| 3:148917645 | V>A | A:433 | (124.19, 33.41, 54.36) | |
| 3:148917643 | rs145762017 | I>V | A:434 | (127.53, 32.60, 57.43) |
| 3:148917624 | D>G | A:440 | (127.97, 36.51, 68.09) | |
| 3:148917621 | rs370863732 | T>I | A:441 | (130.16, 32.30, 68.85) |
| 3:148917609 | T>S | A:445 | (128.92, 21.38, 61.46) | |
| 3:148917603 | rs531580451 | H>L | A:447 | (129.47, 16.03, 55.98) |
| 3:148917595 | G>R | A:450 | (133.25, 14.54, 48.65) | |
| 3:148917585 | P>H | A:453 | (140.14, 17.11, 50.37) | |
| 3:148917582 | L>R | A:454 | (137.15, 20.12, 51.21) | |
| 3:148917583 | L>F | A:454 | (137.15, 20.12, 51.21) | |
| 3:148917570 | rs35331711 | P>L | A:458 | (136.84, 32.34, 57.46) |
| 3:148917571 | COSM385481 | P>T | A:458 | (136.84, 32.34, 57.46) |
| 3:148917565 | COSM325052 | G>R | A:460 | (136.19, 38.51, 59.15) |
| 3:148917562 | V>L | A:461 | (135.89, 35.99, 61.50) | |
| 3:148917552 | COSM3695864 | N>I | A:464 | (141.91, 29.15, 66.98) |
| 3:148917546 | N>S | A:466 | (142.89, 24.39, 66.40) | |
| 3:148917534 | T>K | A:470 | (144.68, 27.05, 55.72) | |
| 3:148917528 | rs373531113 | Y>C | A:472 | (150.01, 28.54, 57.40) |
| 3:148917525 | S>F | A:473 | (154.69, 25.96, 58.20) | |
| 3:148917523 | rs370013284 | P>A | A:474 | (157.72, 27.55, 59.07) |
| 3:148916360 | P>T | A:484 | (141.72, 12.67, 62.68) | |
| 3:148916338 | A>V | A:491 | (137.86, 14.03, 54.40) | |
| 3:148916333 | T>A | A:493 | (133.10, 10.83, 54.81) | |
| 3:148916323 | F>S | A:496 | (135.92, 20.16, 62.32) | |
| 3:148916324 | rs372962396 | F>L | A:496 | (135.92, 20.16, 62.32) |
| 3:148916321 | T>A | A:497 | (132.76, 21.72, 64.42) | |
| 3:148916317 | rs146435990 | Y>C | A:498 | (135.30, 24.69, 61.28) |
| 3:148916302 | P>L | A:503 | (135.45, 40.13, 68.19) | |
| 3:148916274 | D>E | A:512 | (132.07, 50.83, 58.83) | |
| 3:148916269 | rs372023095 | V>G | A:514 | (125.41, 47.96, 60.25) |
| 3:148916263 | L>Q | A:516 | (130.83, 44.61, 56.58) | |
| 3:148916235 | rs701753 | E>D | A:525 | (143.97, 24.09, 46.81) |
| 3:148916230 | T>I | A:527 | (144.17, 27.47, 43.74) | |
| 3:148916215 | rs61733458 | T>I | A:532 | (135.34, 23.47, 42.39) |
| 3:148916210 | rs568470269 | L>F | A:534 | (133.91, 25.28, 47.73) |
| 3:148916201 | P>S | A:537 | (127.91, 34.08, 51.38) | |
| 3:148916183 | K>E | A:543 | (125.40, 44.14, 69.49) | |
| 3:148916170 | H>L | A:547 | (115.44, 41.94, 62.88) | |
| 3:148916163 | N>K | A:549 | (115.52, 37.04, 60.49) | |
| 3:148905983 | V>I | A:555 | (116.80, 46.45, 55.03) | |
| 3:148905980 | D>N | A:556 | (113.24, 46.32, 52.25) | |
| 3:148905955 | rs149267362 | T>I | A:564 | (134.12, 34.94, 38.88) |
| 3:148905956 | rs374104537 | T>A | A:564 | (134.12, 34.94, 38.88) |
| 3:148905928 | rs548894381 | L>P | A:573 | (135.57, 17.96, 39.36) |
| 3:148905892 | rs188643164 | P>H | A:585 | (137.48, 11.99, 25.96) |
| 3:148905893 | P>T | A:585 | (137.48, 11.99, 25.96) | |
| 3:148905886 | Q>L | A:587 | (140.54, 13.58, 20.54) | |
| 3:148905866 | D>Y | A:594 | (140.97, 27.57, 22.08) | |
| 3:148905846 | K>N | A:600 | (138.13, 30.71, 31.13) | |
| 3:148905841 | H>P | A:602 | (133.50, 34.98, 31.99) | |
| 3:148904498 | G>E | A:610 | (120.81, 36.69, 32.36) | |
| 3:148904489 | rs200706325 | P>L | A:613 | (117.59, 34.30, 39.35) |
| 3:148904486 | G>A | A:614 | (116.05, 37.07, 42.22) | |
| 3:148904484 | rs200864206 | L>I | A:615 | (117.99, 40.14, 41.47) |
| 3:148904477 | M>T | A:617 | (113.66, 45.25, 43.82) | |
| 3:148904472 | K>E | A:619 | (109.77, 52.72, 43.26) | |
| 3:148904469 | G>R | A:620 | (111.99, 52.51, 47.53) | |
| 3:148904465 | D>V | A:621 | (112.72, 49.05, 48.50) | |
| 3:148904462 | S>L | A:622 | (116.20, 49.52, 51.35) | |
| 3:148904459 | V>D | A:623 | (118.66, 47.77, 48.62) | |
| 3:148904457 | rs143775161 | V>M | A:624 | (122.08, 46.15, 50.95) |
| 3:148904445 | F>I | A:628 | (131.75, 38.21, 47.23) | |
| 3:148904439 | rs141466225 | A>T | A:630 | (137.69, 35.69, 43.38) |
| 3:148904430 | rs141425435 | E>K | A:633 | (145.73, 38.09, 36.95) |
| 3:148904424 | COSM4114348 | D>N | A:635 | (139.31, 38.59, 38.43) |
| 3:148904409 | Y>H | A:640 | (126.55, 49.90, 35.06) | |
| 3:148904406 | F>L | A:641 | (124.43, 48.36, 39.91) | |
| 3:148904396 | N>I | A:644 | (119.93, 52.82, 39.97) | |
| 3:148904379 | rs555339346 | G>R | A:650 | (129.70, 58.65, 50.92) |
| 3:148904372 | COSM1495438 | R>Q | A:652 | (126.07, 59.29, 45.14) |
| 3:148904373 | rs376994699 | R>W | A:652 | (126.07, 59.29, 45.14) |
| 3:148904367 | D>N | A:654 | (127.18, 53.42, 38.74) | |
| 3:148904354 | rs149158988 | L>P | A:658 | (135.32, 43.65, 42.73) |
| 3:148904346 | COSM1683159 | Q>E | A:661 | (139.86, 38.12, 49.14) |
| 3:148904342 | T>R | A:662 | (137.31, 42.43, 46.99) | |
| 3:148903213 | L>F | A:681 | (131.72, 47.74, 32.51) | |
| 3:148903203 | COSM1039758 | D>G | A:684 | (136.57, 40.36, 27.57) |
| 3:148903195 | rs202036068 | T>A | A:687 | (131.42, 39.54, 25.60) |
| 3:148903152 | R>Q | A:701 | (98.06, 55.26, 43.85) | |
| 3:148903141 | rs547959229 | D>Y | A:705 | (105.54, 63.75, 40.71) |
| 3:148903129 | Y>H | A:709 | (112.30, 69.83, 36.44) | |
| 3:148903104 | I>N | A:717 | (125.50, 65.83, 20.97) | |
| 3:148903095 | V>A | A:720 | (131.17, 62.23, 13.91) | |
| 3:148903096 | V>L | A:720 | (131.17, 62.23, 13.91) | |
| 3:148903090 | V>M | A:722 | (136.54, 61.03, 12.49) | |
| 3:148903087 | rs527915587 | E>Q | A:723 | (141.51, 60.79, 10.28) |
| 3:148903072 | P>S | A:728 | (149.67, 63.78, 15.93) | |
| 3:148903065 | R>K | A:730 | (156.45, 59.51, 16.24) | |
| 3:148903051 | rs377373314 | E>K | A:735 | (162.68, 64.48, 22.23) |
| 3:148903045 | H>N | A:737 | (162.68, 56.65, 23.31) | |
| 3:148903042 | H>N | A:738 | (168.28, 60.87, 22.40) | |
| 3:148901391 | rs577128452 | V>I | A:744 | (163.17, 52.32, 18.63) |
| 3:148901384 | N>I | A:746 | (156.25, 51.80, 18.09) | |
| 3:148901348 | COSM364608 | S>L | A:758 | (148.38, 56.58, 14.08) |
| 3:148901344 | K>N | A:759 | (146.23, 58.16, 10.94) | |
| 3:148901345 | rs199974186 | K>R | A:759 | (146.23, 58.16, 10.94) |
| 3:148901339 | rs373895996 | K>T | A:761 | (137.07, 55.38, 10.20) |
| 3:148901331 | V>M | A:764 | (133.45, 60.87, 17.86) | |
| 3:148901327 | Y>F | A:765 | (129.73, 61.13, 21.52) | |
| 3:148901325 | R>W | A:766 | (132.82, 65.96, 18.88) | |
| 3:148901300 | rs115552500 | R>H | A:774 | (123.63, 74.23, 9.65) |
| 3:148901301 | R>C | A:774 | (123.63, 74.23, 9.65) | |
| 3:148901280 | A>T | A:781 | (141.77, 76.26, 25.26) | |
| 3:148901269 | E>D | A:784 | (143.45, 71.42, 23.39) | |
| 3:148901270 | E>G | A:784 | (143.45, 71.42, 23.39) | |
| 3:148901271 | rs149842768 | E>Q | A:784 | (143.45, 71.42, 23.39) |
| 3:148899915 | Q>K | A:792 | (133.20, 68.87, 30.22) | |
| 3:148899912 | L>I | A:793 | (128.19, 67.61, 29.27) | |
| 3:148899900 | rs139058165 | V>I | A:797 | (121.43, 68.74, 41.61) |
| 3:148899896 | G>E | A:798 | (117.78, 69.65, 39.38) | |
| 3:148899855 | P>S | A:812 | (123.20, 52.01, 14.79) | |
| 3:148899836 | H>R | A:818 | (127.28, 55.86, 33.94) | |
| 3:148899828 | rs142139927 | Q>E | A:821 | (116.58, 59.61, 36.76) |
| 3:148899824 | rs56033670 | T>R | A:822 | (116.01, 57.67, 32.86) |
| 3:148899821 | rs149858116 | E>G | A:823 | (111.16, 58.26, 32.36) |
| 3:148899816 | S>T | A:825 | (115.22, 50.46, 31.06) | |
| 3:148899809 | V>A | A:827 | (118.44, 53.22, 25.47) | |
| 3:148897441 | L>F | A:836 | (116.52, 60.73, 18.88) | |
| 3:148897411 | S>P | A:846 | (122.80, 61.98, 40.25) | |
| 3:148897408 | G>R | A:847 | (125.19, 63.32, 43.11) | |
| 3:148897398 | T>R | A:850 | (128.11, 63.27, 52.49) | |
| 3:148897394 | rs199743442 | E>D | A:851 | (132.14, 61.54, 52.44) |
| 3:148897396 | E>Q | A:851 | (132.14, 61.54, 52.44) | |
| 3:148897393 | rs529607771 | D>N | A:852 | (131.62, 63.16, 47.19) |
| 3:148897383 | rs570400135 | C>Y | A:855 | (131.85, 68.21, 41.31) |
| 3:148897378 | P>S | A:857 | (132.53, 62.31, 37.43) | |
| 3:148897368 | Y>F | A:860 | (129.18, 61.24, 27.46) | |
| 3:148897356 | rs560332215 | V>A | A:864 | (123.78, 49.74, 20.61) |
| 3:148897344 | K>R | A:868 | (132.38, 46.96, 18.86) | |
| 3:148896411 | rs576931228 | Y>C | A:871 | (137.13, 49.50, 22.67) |
| 3:148896403 | L>V | A:874 | (131.25, 56.84, 21.14) | |
| 3:148896400 | rs374688913 | I>L | A:875 | (133.69, 58.39, 25.59) |
| 3:148896396 | rs139633388 | G>A | A:876 | (132.26, 61.07, 27.88) |
| 3:148896384 | rs374288870 | V>A | A:880 | (127.05, 66.47, 38.44) |
| 3:148896378 | rs199923182 | R>Q | A:882 | (126.82, 69.53, 46.05) |
| 3:148896354 | N>S | A:890 | (138.32, 86.78, 46.87) | |
| 3:148896339 | rs147434775 | L>Q | A:895 | (140.91, 75.07, 36.25) |
| 3:148896322 | COSM1039752 | F>L | A:901 | (143.77, 57.10, 31.95) |
| 3:148896311 | F>L | A:904 | (140.80, 53.50, 22.57) | |
| 3:148896282 | D>A | A:914 | (136.93, 50.63, 6.75) | |
| 3:148896259 | rs368341636 | H>Y | A:922 | (150.72, 45.46, 1.34) |
| 3:148896253 | rs571448440 | E>K | A:924 | (146.99, 41.44, 1.08) |
| 3:148896233 | rs201431095 | D>E | A:930 | (148.59, 37.91, 14.20) |
| 3:148896232 | rs375629137 | E>K | A:931 | (149.46, 37.20, 18.85) |
| 3:148896227 | E>D | A:932 | (152.79, 41.13, 15.59) | |
| 3:148895764 | I>V | A:942 | (145.76, 59.91, 28.07) | |
| 3:148895754 | R>I | A:945 | (145.89, 62.31, 21.49) | |
| 3:148895748 | F>S | A:947 | (154.26, 58.34, 23.24) | |
| 3:148895745 | rs370673560 | G>A | A:948 | (152.41, 63.88, 24.40) |
| 3:148895741 | N>K | A:949 | (150.34, 63.91, 21.42) | |
| 3:148895727 | rs150192298 | T>K | A:954 | (147.62, 74.90, 31.07) |
| 3:148895725 | M>L | A:955 | (147.96, 74.81, 35.23) | |
| 3:148895719 | rs192063766 | V>M | A:957 | (150.74, 79.16, 40.73) |
| 3:148895697 | Y>C | A:964 | (136.62, 65.98, 36.62) | |
| 3:148895685 | rs556278892 | M>T | A:968 | (136.13, 52.52, 30.68) |
| 3:148895673 | rs141912721 | I>T | A:972 | (144.45, 45.19, 30.46) |
| 3:148895669 | D>E | A:973 | (142.14, 48.87, 31.17) | |
| 3:148895659 | V>I | A:977 | (146.97, 57.98, 37.66) | |
| 3:148895647 | rs187293972 | G>S | A:981 | (155.10, 67.53, 41.35) |
| 3:148895644 | H>Y | A:982 | (152.27, 68.95, 41.84) | |
| 3:148895632 | rs140673443 | Y>H | A:986 | (140.90, 61.40, 47.73) |
| 3:148894197 | H>Q | A:988 | (133.76, 66.95, 51.91) | |
| 3:148894193 | rs146842948 | G>R | A:990 | (140.54, 66.87, 51.33) |
| 3:148894151 | Y>H | A:1004 | (133.49, 56.91, 36.53) | |
| 3:148894142 | rs143407857 | L>V | A:1007 | (141.36, 64.17, 41.91) |
| 3:148894133 | F>L | A:1010 | (145.27, 73.11, 45.61) | |
| 3:148894094 | V>L | A:1023 | (151.52, 50.04, 34.28) | |
| 3:148894088 | rs149217680 | D>N | A:1025 | (152.77, 47.42, 29.07) |
| 3:148894054 | T>N | A:1036 | (152.00, 73.33, 32.20) | |
| 3:148894052 | COSM1039749 | V>I | A:1037 | (152.69, 74.75, 36.27) |
| 3:148894040 | rs192023240 | E>K | A:1041 | (152.10, 88.01, 36.42) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:148939498 | rs386134121 | I>F | A:9 | (173.42, 53.17, 43.37) |
| 3:148930403 | rs200683433 | D>H | A:58 | (179.68, 59.80, 55.43) |
| 3:148928068 | rs386134122 | Q>E | A:146 | (152.75, 66.82, 48.95) |
| 3:148928013 | rs386134123 | I>S | A:164 | (166.41, 56.84, 33.15) |
| 3:148927974 | rs386134124 | P>L | A:177 | (160.77, 53.49, 51.25) |
| 3:148927129 | rs386134125 | F>S | A:198 | (156.53, 46.21, 59.85) |
| 3:148925338 | rs386134126 | W>S | A:264 | (151.82, 46.19, 58.50) |
| 3:148924114 | rs386134127 | A>D | A:331 | (154.90, 35.85, 54.25) |
| 3:148924040 | rs386134128 | Y>H | A:356 | (124.20, 22.45, 61.46) |
| 3:148916215 | rs61733458 | T>I | A:532 | (135.34, 23.47, 42.39) |
| 3:148904510 | rs386134129 | G>E | A:606 | (127.03, 31.10, 38.14) |
| 3:148903180 | rs386134130 | Q>K | A:692 | (122.88, 39.08, 35.04) |
| 3:148903153 | rs145784949 | R>W | A:701 | (98.06, 55.26, 43.85) |
| 3:148896405 | rs386134131 | G>E | A:873 | (134.87, 56.49, 20.35) |
| 3:148896396 | rs139633388 | G>A | A:876 | (132.26, 61.07, 27.88) |
| 3:148895692 | rs386134132 | M>V | A:966 | (137.02, 58.76, 33.08) |
| 3:148895683 | rs386134133 | G>S | A:969 | (137.47, 48.52, 29.59) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:148939490 | COSM1617043 | E>D | A:11 | (176.24, 46.84, 40.68) |
| 3:148928058 | COSM1693581 | G>A | A:149 | (145.16, 64.01, 55.90) |
| 3:148927989 | COSM460888 | S>L | A:172 | (167.09, 46.45, 38.39) |
| 3:148927978 | COSM1419842 | G>R | A:176 | (161.72, 52.98, 47.91) |
| 3:148927028 | COSM1039763 | E>K | A:232 | (156.66, 32.67, 28.21) |
| 3:148925268 | COSM2157283 | N>K | A:287 | (141.98, 51.99, 55.68) |
| 3:148924112 | COSM1536558 | F>L | A:332 | (155.75, 32.71, 57.10) |
| 3:148924025 | COSM3588574 | E>K | A:361 | (128.82, 15.70, 43.97) |
| 3:148923985 | COSM1159603 | F>S | A:374 | (120.74, 40.89, 28.29) |
| 3:148919930 | COSM1202116 | R>Q | A:417 | (118.72, 19.81, 51.79) |
| 3:148905923 | COSM3588570 | E>K | A:575 | (139.69, 14.36, 33.93) |
| 3:148897410 | COSM419775 | S>F | A:846 | (122.80, 61.98, 40.25) |
| 3:148896378 | COSM3002676 | R>Q | A:882 | (126.82, 69.53, 46.05) |
| 3:148895746 | COSM4424046 | G>R | A:948 | (152.41, 63.88, 24.40) |
| 3:148894160 | COSM1617041 | P>S | A:1001 | (136.97, 49.56, 34.54) |