General Structure Information
| PDB ID | 4a5w |
| HGNC Gene Label(s) | C6 |
| Structure Name | crystal structure of c5b6 |
| Resolution | 3.5Å |
| Reference | AUTH M.A.HADDERS,D.BUBECK,P.ROVERSI,S.HAKOBYAN,F.FORNERIS,AUTH 2 B.P.MORGAN,M.K.PANGBURN,O.LLORCA,S.M.LEA,P.GROSTITL ASSEMBLY AND REGULATION OF THE MEMBRANE ATTACK COMPLEXTITL 2 BASED ON STRUCTURES OF C5B6 AND SC5B9.REF CELL REP. V. 1 200 2012REFN ISSN 2211-1247PMID 22832194DOI 10.1016/J.CELREP.2012.02.003 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 871 |
| Number Of SNVs | 251 |
| Number Of Permutations | 77740 |
| Optimal Distance Threshold | 53.0 |
| K Statistic | 0.466 |
| p-value | 0.156 |
COSMIC
| Number Of Residues | 871 |
| Number Of SNVs | 34 |
| Number Of Permutations | 41833 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.005 |
| p-value | 0.923 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 251 |
| Number Of COSMIC SNVs | 29 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | -0.011 |
| p-value | 0.601 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:41203268 | rs544418156 | C>Y | B:22 | (91.50, -62.16, -114.24) |
| 5:41203257 | H>N | B:26 | (96.58, -58.15, -109.17) | |
| 5:41203253 | Y>C | B:27 | (93.35, -54.44, -109.56) | |
| 5:41203250 | A>V | B:28 | (92.68, -54.16, -103.61) | |
| 5:41203244 | T>I | B:30 | (88.71, -50.52, -99.84) | |
| 5:41203198 | COSM342519 | S>R | B:45 | (80.80, -50.09, -98.08) |
| 5:41203199 | COSM3855303 | S>N | B:45 | (80.80, -50.09, -98.08) |
| 5:41203193 | rs557618805 | H>L | B:47 | (85.97, -49.66, -103.13) |
| 5:41203190 | rs145422926 | R>K | B:48 | (88.16, -54.99, -105.75) |
| 5:41201814 | Q>L | B:49 | (92.06, -49.92, -104.58) | |
| 5:41201802 | D>A | B:53 | (95.80, -50.61, -116.11) | |
| 5:41201796 | Y>S | B:55 | (96.17, -57.59, -115.47) | |
| 5:41201788 | COSM1695726 | E>Q | B:58 | (95.45, -57.15, -121.66) |
| 5:41201778 | C>Y | B:61 | (89.16, -57.32, -114.98) | |
| 5:41201774 | rs200359838 | E>D | B:62 | (84.73, -54.46, -116.55) |
| 5:41201768 | I>M | B:64 | (85.45, -61.74, -114.69) | |
| 5:41201739 | N>I | B:74 | (76.03, -52.25, -85.73) | |
| 5:41201740 | rs144491040 | N>H | B:74 | (76.03, -52.25, -85.73) |
| 5:41201737 | W>R | B:75 | (73.46, -57.26, -86.68) | |
| 5:41201729 | R>S | B:77 | (67.82, -53.25, -83.05) | |
| 5:41201730 | COSM1543963 | R>T | B:77 | (67.82, -53.25, -83.05) |
| 5:41201712 | rs373759648 | L>R | B:83 | (62.33, -41.12, -71.17) |
| 5:41201706 | G>E | B:85 | (58.60, -38.08, -66.07) | |
| 5:41201678 | D>E | B:94 | (47.88, -39.36, -46.46) | |
| 5:41201667 | rs121917779 | E>G | B:98 | (50.66, -39.14, -40.54) |
| 5:41200011 | K>E | B:102 | (55.43, -36.80, -55.81) | |
| 5:41200008 | V>I | B:103 | (53.14, -39.85, -59.12) | |
| 5:41199999 | V>L | B:106 | (56.29, -44.26, -67.15) | |
| 5:41199992 | rs200213547 | R>H | B:108 | (60.88, -44.52, -75.04) |
| 5:41199993 | rs530594382 COSM3941326 |
R>S | B:108 | (60.88, -44.52, -75.04) |
| 5:41199963 | T>A | B:118 | (64.73, -47.22, -61.16) | |
| 5:41199959 | rs1801033 | A>E | B:119 | (63.47, -44.16, -59.80) |
| 5:41199947 | A>D | B:123 | (57.31, -39.64, -53.22) | |
| 5:41199945 | F>V | B:124 | (56.02, -41.45, -49.90) | |
| 5:41199936 | C>R | B:127 | (52.17, -33.89, -43.54) | |
| 5:41199933 | I>F | B:128 | (50.25, -31.14, -41.23) | |
| 5:41199929 | P>L | B:129 | (47.48, -34.00, -39.87) | |
| 5:41199927 | rs541289887 | S>P | B:130 | (43.13, -32.43, -41.08) |
| 5:41199911 | rs574256356 | I>T | B:135 | (35.20, -44.74, -41.96) |
| 5:41199904 | rs142045537 | E>D | B:137 | (29.02, -43.11, -43.75) |
| 5:41199902 | A>V | B:138 | (25.83, -40.69, -44.54) | |
| 5:41199903 | rs199788917 | A>T | B:138 | (25.83, -40.69, -44.54) |
| 5:41199896 | C>Y | B:140 | (23.23, -43.16, -39.49) | |
| 5:41199884 | F>C | B:144 | (25.68, -47.43, -32.22) | |
| 5:41199882 | rs267600638 COSM1437618 |
R>C | B:145 | (27.51, -43.17, -35.83) |
| 5:41196029 | rs201373074 | C>F | B:151 | (26.94, -47.31, -38.76) |
| 5:41196026 | I>T | B:152 | (26.62, -51.11, -37.56) | |
| 5:41196023 | A>D | B:153 | (22.43, -50.54, -39.61) | |
| 5:41196013 | L>F | B:156 | (25.34, -55.49, -34.26) | |
| 5:41196011 | E>G | B:157 | (24.24, -52.91, -29.71) | |
| 5:41196008 | C>Y | B:158 | (26.89, -56.47, -27.55) | |
| 5:41195994 | D>N | B:163 | (33.23, -56.62, -34.70) | |
| 5:41195984 | D>V | B:166 | (40.68, -52.47, -35.76) | |
| 5:41195985 | COSM279430 | D>N | B:166 | (40.68, -52.47, -35.76) |
| 5:41195967 | rs370736842 | D>H | B:172 | (29.41, -53.28, -29.67) |
| 5:41195960 | G>E | B:174 | (29.09, -53.58, -23.13) | |
| 5:41195945 | rs569189962 | V>A | B:179 | (24.09, -63.88, -29.35) |
| 5:41195943 | C>S | B:180 | (25.72, -66.59, -31.47) | |
| 5:41195939 | rs114609505 | T>I | B:181 | (25.79, -69.63, -28.55) |
| 5:41195937 | rs141862960 | R>W | B:182 | (26.07, -74.54, -28.89) |
| 5:41195915 | S>N | B:189 | (41.74, -68.69, -44.65) | |
| 5:41195904 | M>L | B:193 | (38.03, -66.17, -49.61) | |
| 5:41195901 | G>S | B:194 | (39.40, -61.96, -50.03) | |
| 5:41195898 | N>D | B:195 | (42.27, -59.29, -50.78) | |
| 5:41195894 | G>E | B:196 | (42.37, -59.01, -54.25) | |
| 5:41186301 | F>L | B:199 | (43.77, -59.37, -65.18) | |
| 5:41186294 | G>R | B:202 | (49.08, -61.31, -60.50) | |
| 5:41186284 | COSM592892 | R>K | B:205 | (49.12, -55.88, -54.39) |
| 5:41186281 | G>E | B:206 | (44.63, -56.07, -51.11) | |
| 5:41186279 | E>K | B:207 | (42.73, -56.74, -46.88) | |
| 5:41186269 | D>G | B:210 | (36.76, -58.06, -44.00) | |
| 5:41186270 | D>H | B:210 | (36.76, -58.06, -44.00) | |
| 5:41186267 | N>Y | B:211 | (34.80, -62.07, -45.27) | |
| 5:41186248 | rs147018902 | I>T | B:217 | (23.42, -64.25, -39.50) |
| 5:41186246 | C>R | B:218 | (24.47, -68.00, -36.94) | |
| 5:41186225 | R>W | B:225 | (38.53, -85.03, -43.58) | |
| 5:41186221 | rs61734261 | T>I | B:226 | (36.95, -80.78, -40.28) |
| 5:41186212 | P>L | B:229 | (31.29, -77.16, -36.72) | |
| 5:41186213 | P>A | B:229 | (31.29, -77.16, -36.72) | |
| 5:41186207 | R>C | B:231 | (30.36, -68.57, -38.06) | |
| 5:41186203 | V>G | B:232 | (29.71, -69.05, -42.71) | |
| 5:41186200 | P>L | B:233 | (31.32, -65.91, -43.61) | |
| 5:41186186 | rs115613673 | N>H | B:238 | (27.71, -71.36, -50.66) |
| 5:41186179 | rs143027872 | G>D | B:240 | (32.30, -76.05, -49.33) |
| 5:41186180 | G>S | B:240 | (32.30, -76.05, -49.33) | |
| 5:41181647 | E>D | B:247 | (44.44, -88.99, -57.36) | |
| 5:41181643 | rs149083538 | D>H | B:249 | (41.10, -85.73, -59.38) |
| 5:41181636 | K>R | B:251 | (45.69, -90.38, -61.85) | |
| 5:41181633 | rs189209342 | T>I | B:252 | (42.80, -87.00, -64.60) |
| 5:41181621 | K>T | B:256 | (50.12, -84.62, -70.76) | |
| 5:41181567 | rs199795699 rs557023458 CD002162 |
Q>R | B:274 | (31.36, -66.38, -73.48) |
| 5:41181564 | rs201064036 COSM1739160 |
G>A | B:275 | (34.32, -64.86, -75.08) |
| 5:41181552 | rs536550760 | F>S | B:279 | (35.35, -59.54, -74.64) |
| 5:41181543 | COSM3616627 | P>L | B:282 | (38.99, -55.54, -72.80) |
| 5:41181540 | rs142653101 | I>S | B:283 | (39.53, -56.84, -68.96) |
| 5:41181507 | N>S | B:294 | (45.17, -68.93, -65.96) | |
| 5:41181501 | rs550564724 COSM3920103 |
N>S | B:296 | (51.10, -66.57, -61.37) |
| 5:41181491 | rs78369336 | F>L | B:299 | (56.79, -65.47, -67.85) |
| 5:41181481 | rs373785785 | I>V | B:303 | (61.50, -65.63, -71.32) |
| 5:41181474 | A>D | B:305 | (66.15, -68.61, -69.76) | |
| 5:41181469 | rs144532993 | H>Y | B:307 | (69.99, -65.98, -73.79) |
| 5:41176802 | rs370782768 | R>G | B:315 | (52.10, -76.54, -67.25) |
| 5:41176790 | rs139735513 | V>M | B:319 | (43.93, -79.54, -58.65) |
| 5:41176784 | rs375882207 | K>E | B:321 | (39.19, -78.11, -55.66) |
| 5:41176765 | rs151296032 | T>M | B:327 | (30.43, -63.88, -53.11) |
| 5:41176766 | T>S | B:327 | (30.43, -63.88, -53.11) | |
| 5:41176760 | A>T | B:329 | (26.30, -59.62, -55.14) | |
| 5:41176718 | N>D | B:343 | (35.83, -42.88, -47.45) | |
| 5:41176705 | L>P | B:347 | (34.92, -35.41, -55.00) | |
| 5:41176706 | rs544541522 | L>V | B:347 | (34.92, -35.41, -55.00) |
| 5:41176694 | S>P | B:351 | (45.07, -39.91, -62.74) | |
| 5:41176666 | D>V | B:360 | (47.43, -50.19, -53.04) | |
| 5:41176654 | rs201216131 | H>R | B:364 | (39.31, -57.25, -60.89) |
| 5:41176652 | Y>N | B:365 | (34.90, -58.78, -56.34) | |
| 5:41176636 | COSM224908 | S>F | B:370 | (38.35, -72.14, -55.55) |
| 5:41176624 | V>A | B:374 | (48.66, -76.14, -57.11) | |
| 5:41176625 | rs143839537 | V>M | B:374 | (48.66, -76.14, -57.11) |
| 5:41176595 | E>K | B:384 | (70.64, -79.74, -80.39) | |
| 5:41172445 | L>F | B:391 | (61.93, -87.37, -82.99) | |
| 5:41172443 | rs201520273 | T>S | B:392 | (59.27, -88.67, -79.07) |
| 5:41172441 | E>Q | B:393 | (55.00, -85.08, -79.78) | |
| 5:41172429 | rs6896011 | K>E | B:397 | (53.65, -85.63, -73.35) |
| 5:41172416 | R>K | B:401 | (52.72, -89.41, -65.63) | |
| 5:41172413 | rs139261476 | I>T | B:402 | (58.55, -89.77, -63.11) |
| 5:41172351 | N>H | B:423 | (65.35, -88.78, -69.29) | |
| 5:41172341 | S>L | B:426 | (69.61, -86.24, -64.33) | |
| 5:41172336 | K>E | B:428 | (73.88, -86.19, -62.91) | |
| 5:41161953 | rs117445335 | I>V | B:434 | (69.45, -90.42, -72.08) |
| 5:41161944 | A>T | B:437 | (68.56, -81.18, -69.26) | |
| 5:41161941 | COSM389525 | E>K | B:438 | (70.03, -77.74, -68.56) |
| 5:41161935 | rs368185869 | S>A | B:440 | (63.95, -76.27, -63.56) |
| 5:41161919 | rs141885438 | R>Q | B:445 | (51.28, -69.74, -56.11) |
| 5:41161856 | E>A | B:466 | (59.19, -90.64, -45.99) | |
| 5:41161833 | E>Q | B:474 | (49.68, -81.58, -43.52) | |
| 5:41161829 | S>L | B:475 | (50.96, -76.98, -45.47) | |
| 5:41161812 | A>S | B:481 | (45.37, -70.79, -51.84) | |
| 5:41161802 | rs371422530 | D>G | B:484 | (40.40, -72.30, -59.82) |
| 5:41161799 | F>C | B:485 | (41.03, -66.84, -60.10) | |
| 5:41161800 | rs146149249 | F>L | B:485 | (41.03, -66.84, -60.10) |
| 5:41160459 | I>T | B:490 | (37.20, -52.89, -57.61) | |
| 5:41160457 | rs200823179 | V>M | B:491 | (33.81, -50.50, -59.95) |
| 5:41160454 | D>N | B:492 | (30.72, -53.42, -58.73) | |
| 5:41160449 | L>F | B:493 | (33.00, -53.28, -54.31) | |
| 5:41160447 | V>A | B:494 | (32.24, -48.20, -54.85) | |
| 5:41160432 | C>S | B:499 | (30.03, -39.51, -53.04) | |
| 5:41160429 | COSM3855298 | A>V | B:500 | (29.17, -43.25, -54.75) |
| 5:41160430 | rs370054003 | A>S | B:500 | (29.17, -43.25, -54.75) |
| 5:41160417 | R>Q | B:504 | (29.70, -46.01, -58.47) | |
| 5:41160418 | COSM341601 | R>W | B:504 | (29.70, -46.01, -58.47) |
| 5:41160413 | rs375299238 | N>K | B:505 | (31.36, -42.89, -62.78) |
| 5:41160390 | E>G | B:513 | (43.26, -43.23, -68.06) | |
| 5:41160387 | Y>C | B:514 | (46.23, -48.70, -64.24) | |
| 5:41160388 | Y>D | B:514 | (46.23, -48.70, -64.24) | |
| 5:41160382 | A>T | B:516 | (47.06, -48.03, -71.04) | |
| 5:41160358 | A>S | B:524 | (58.73, -52.42, -80.35) | |
| 5:41160336 | rs143506766 | R>Q | B:531 | (53.74, -62.45, -79.97) |
| 5:41160333 | rs148843643 | P>H | B:532 | (56.17, -57.84, -77.73) |
| 5:41160334 | COSM3855297 | P>S | B:532 | (56.17, -57.84, -77.73) |
| 5:41160328 | rs146667042 | L>F | B:534 | (54.68, -55.22, -70.09) |
| 5:41160316 | E>K | B:538 | (61.86, -55.12, -69.03) | |
| 5:41160309 | rs553814469 | L>R | B:540 | (61.72, -59.43, -71.47) |
| 5:41160310 | rs190268323 | L>V | B:540 | (61.72, -59.43, -71.47) |
| 5:41160300 | C>Y | B:543 | (61.15, -65.16, -78.68) | |
| 5:41160301 | C>R | B:543 | (61.15, -65.16, -78.68) | |
| 5:41160288 | T>N | B:547 | (64.61, -68.03, -81.88) | |
| 5:41160283 | G>S | B:549 | (67.82, -66.01, -78.06) | |
| 5:41160276 | N>S | B:551 | (66.61, -59.73, -77.74) | |
| 5:41160268 | K>Q | B:554 | (71.26, -65.57, -82.51) | |
| 5:41160262 | rs367628052 | S>P | B:556 | (67.92, -71.79, -85.50) |
| 5:41160244 | N>D | B:562 | (59.93, -65.17, -93.71) | |
| 5:41159352 | A>V | B:563 | (57.36, -64.45, -90.61) | |
| 5:41159344 | rs372194362 COSM1068304 |
G>R | B:566 | (51.42, -58.45, -87.38) |
| 5:41159339 | rs80108105 | Q>H | B:567 | (51.32, -57.25, -84.44) |
| 5:41159338 | W>R | B:568 | (46.63, -53.24, -84.58) | |
| 5:41159335 | G>C | B:569 | (49.78, -49.76, -83.16) | |
| 5:41159326 | rs371329890 | S>T | B:572 | (45.99, -42.44, -82.50) |
| 5:41159292 | R>K | B:583 | (36.31, -37.96, -79.03) | |
| 5:41159293 | rs141061499 | R>G | B:583 | (36.31, -37.96, -79.03) |
| 5:41159286 | R>K | B:585 | (40.46, -44.24, -80.89) | |
| 5:41159280 | rs207465951 COSM3429471 |
R>Q | B:587 | (44.10, -49.75, -84.03) |
| 5:41159273 | rs200375246 | C>W | B:589 | (49.11, -52.39, -88.36) |
| 5:41159271 | N>S | B:590 | (52.34, -49.56, -89.26) | |
| 5:41159262 | A>V | B:593 | (56.17, -54.43, -90.83) | |
| 5:41159263 | A>T | B:593 | (56.17, -54.43, -90.83) | |
| 5:41159253 | rs148521858 | R>Q | B:596 | (56.13, -65.62, -94.05) |
| 5:41159250 | G>E | B:597 | (52.98, -62.45, -94.36) | |
| 5:41159247 | COSM1695718 | G>E | B:598 | (50.16, -63.67, -92.64) |
| 5:41159248 | G>R | B:598 | (50.16, -63.67, -92.64) | |
| 5:41159242 | COSM172891 | R>C | B:600 | (45.50, -58.44, -92.40) |
| 5:41159232 | G>E | B:603 | (40.43, -55.49, -85.08) | |
| 5:41159223 | R>Q | B:606 | (36.72, -45.41, -87.06) | |
| 5:41159208 | C>Y | B:611 | (31.55, -36.00, -77.72) | |
| 5:41159192 | rs76528010 | M>I | B:616 | (28.27, -26.30, -66.64) |
| 5:41159193 | COSM319101 | M>T | B:616 | (28.27, -26.30, -66.64) |
| 5:41159191 | E>K | B:617 | (30.14, -22.70, -63.31) | |
| 5:41159186 | N>K | B:618 | (28.81, -27.10, -61.38) | |
| 5:41158883 | Q>E | B:621 | (33.05, -30.74, -57.19) | |
| 5:41158879 | P>L | B:622 | (30.13, -33.24, -58.87) | |
| 5:41158880 | P>T | B:622 | (30.13, -33.24, -58.87) | |
| 5:41158874 | I>V | B:624 | (25.48, -37.80, -56.66) | |
| 5:41158855 | M>T | B:630 | (7.17, -42.88, -57.43) | |
| 5:41158850 | E>Q | B:632 | (7.89, -42.61, -52.07) | |
| 5:41158844 | rs544678725 | D>N | B:634 | (7.03, -40.91, -47.44) |
| 5:41158840 | COSM319102 | L>P | B:635 | (3.34, -39.38, -45.47) |
| 5:41158838 | rs186960114 | P>A | B:636 | (5.74, -35.94, -46.34) |
| 5:41158825 | A>G | B:640 | (4.72, -30.33, -35.56) | |
| 5:41158817 | rs199552869 | G>R | B:643 | (0.12, -27.31, -41.63) |
| 5:41158813 | C>S | B:644 | (-2.20, -26.74, -44.40) | |
| 5:41158811 | P>T | B:645 | (-3.26, -29.58, -46.47) | |
| 5:41158802 | V>F | B:648 | (-10.24, -28.75, -53.05) | |
| 5:41158788 | N>K | B:652 | (-14.55, -25.56, -62.96) | |
| 5:41158780 | rs201352548 | I>T | B:655 | (-5.29, -24.02, -57.43) |
| 5:41158777 | rs144666796 | R>Q | B:656 | (-2.83, -19.71, -60.47) |
| 5:41158778 | rs147459672 | R>W | B:656 | (-2.83, -19.71, -60.47) |
| 5:41155175 | rs375991339 | D>G | B:667 | (-2.79, -16.27, -49.01) |
| 5:41155176 | rs184169749 | D>H | B:667 | (-2.79, -16.27, -49.01) |
| 5:41155172 | V>D | B:668 | (-3.90, -19.83, -52.39) | |
| 5:41155165 | I>M | B:670 | (-8.76, -19.55, -56.80) | |
| 5:41155167 | I>L | B:670 | (-8.76, -19.55, -56.80) | |
| 5:41155144 | rs147228419 | E>D | B:677 | (-15.20, -14.25, -64.52) |
| 5:41155112 | P>L | B:688 | (-4.37, -22.23, -37.32) | |
| 5:41155103 | rs150759810 | T>I | B:691 | (-8.99, -25.95, -42.21) |
| 5:41155099 | W>C | B:692 | (-7.15, -24.17, -46.63) | |
| 5:41155088 | rs41271067 | D>G | B:696 | (-17.80, -16.58, -51.62) |
| 5:41155089 | rs78888823 | D>N | B:696 | (-17.80, -16.58, -51.62) |
| 5:41154097 | COSM188047 | T>M | B:702 | (-17.78, -15.96, -70.09) |
| 5:41154092 | C>G | B:704 | (-18.72, -21.78, -74.65) | |
| 5:41154083 | P>S | B:707 | (-17.20, -29.58, -79.33) | |
| 5:41154080 | V>I | B:708 | (-14.74, -33.40, -79.02) | |
| 5:41154058 | I>T | B:715 | (-18.31, -27.07, -87.30) | |
| 5:41154042 | rs143400821 | R>S | B:720 | (-9.36, -21.94, -79.69) |
| 5:41154017 | rs545743707 COSM1471817 |
E>K | B:729 | (-24.47, -24.08, -87.23) |
| 5:41154005 | P>S | B:733 | (-19.89, -33.21, -95.54) | |
| 5:41153983 | G>E | B:740 | (-29.25, -34.60, -85.55) | |
| 5:41153975 | rs374476792 | R>G | B:743 | (-29.51, -24.16, -84.36) |
| 5:41153955 | N>K | B:749 | (-26.68, -24.48, -71.34) | |
| 5:41153942 | P>S | B:754 | (-24.05, -36.47, -77.52) | |
| 5:41153929 | COSM3616597 | S>F | B:758 | (-21.18, -39.08, -81.21) |
| 5:41153921 | C>R | B:761 | (-22.30, -39.60, -90.35) | |
| 5:41153914 | rs76553178 | K>R | B:763 | (-24.74, -43.30, -97.03) |
| 5:41150125 | rs200780814 | T>A | B:765 | (-31.37, -42.27, -98.76) |
| 5:41150106 | rs370790517 | G>V | B:771 | (-25.83, -47.76, -101.57) |
| 5:41150103 | H>R | B:772 | (-26.97, -52.28, -102.88) | |
| 5:41150083 | Q>K | B:779 | (-14.87, -55.64, -94.83) | |
| 5:41150056 | S>T | B:788 | (-30.54, -61.11, -94.15) | |
| 5:41149562 | rs200904814 | V>L | B:802 | (-45.22, -52.38, -100.85) |
| 5:41149550 | D>Y | B:806 | (-49.72, -64.45, -105.16) | |
| 5:41149540 | D>G | B:809 | (-52.38, -57.31, -99.93) | |
| 5:41149541 | COSM3616595 | D>N | B:809 | (-52.38, -57.31, -99.93) |
| 5:41149531 | rs61733158 | T>I | B:812 | (-47.11, -50.65, -95.11) |
| 5:41149529 | S>T | B:813 | (-43.15, -50.94, -95.20) | |
| 5:41149523 | COSM354489 | A>T | B:815 | (-37.14, -49.07, -95.33) |
| 5:41149513 | F>S | B:818 | (-37.64, -52.79, -98.73) | |
| 5:41149505 | rs141740354 | E>K | B:821 | (-38.59, -58.46, -99.25) |
| 5:41149502 | K>E | B:822 | (-34.78, -55.22, -103.71) | |
| 5:41149490 | N>H | B:826 | (-37.92, -62.33, -103.03) | |
| 5:41149485 | Q>H | B:827 | (-34.61, -59.27, -107.23) | |
| 5:41149468 | H>R | B:833 | (-41.79, -50.82, -105.81) | |
| 5:41149469 | H>Y | B:833 | (-41.79, -50.82, -105.81) | |
| 5:41149459 | rs546595899 COSM1695714 |
S>F | B:836 | (-44.32, -42.62, -98.46) |
| 5:41149460 | S>T | B:836 | (-44.32, -42.62, -98.46) | |
| 5:41149452 | Q>H | B:838 | (-49.10, -43.03, -93.29) | |
| 5:41149448 | rs142836385 | G>S | B:840 | (-54.33, -44.08, -97.03) |
| 5:41149444 | COSM449677 | R>H | B:841 | (-56.14, -41.17, -97.73) |
| 5:41149445 | rs187593836 | R>C | B:841 | (-56.14, -41.17, -97.73) |
| 5:41149420 | rs373211621 COSM3616593 |
R>M | B:849 | (-53.62, -46.53, -111.41) |
| 5:41149358 | rs200154625 | W>R | B:870 | (-36.91, -47.11, -106.03) |
| 5:41149354 | E>G | B:871 | (-32.56, -44.66, -108.71) | |
| 5:41149348 | C>Y | B:873 | (-35.24, -41.36, -109.97) | |
| 5:41143106 | S>T | B:876 | (-36.55, -36.65, -107.17) | |
| 5:41143102 | T>I | B:877 | (-39.05, -36.99, -104.26) | |
| 5:41143103 | T>A | B:877 | (-39.05, -36.99, -104.26) | |
| 5:41143075 | P>L | B:886 | (-43.00, -35.14, -126.69) | |
| 5:41143060 | rs147238267 | G>V | B:891 | (-42.04, -44.78, -129.59) |
| 5:41143061 | rs377130163 | G>S | B:891 | (-42.04, -44.78, -129.59) |
| 5:41143045 | Y>C | B:896 | (-47.12, -53.36, -128.10) | |
| 5:41143033 | M>T | B:900 | (-60.75, -43.46, -127.78) | |
| 5:41143034 | rs552042928 | M>L | B:900 | (-60.75, -43.46, -127.78) |
| 5:41143028 | S>T | B:902 | (-60.88, -38.19, -123.56) | |
| 5:41143018 | S>N | B:905 | (-59.93, -38.55, -129.50) | |
| 5:41142995 | COSM1068301 | E>K | B:913 | (-48.96, -41.69, -124.83) |
| 5:41142985 | T>S | B:916 | (-48.54, -40.82, -119.71) | |
| 5:41142976 | COSM592466 | C>Y | B:919 | (-50.67, -39.48, -114.25) |
| 5:41142962 | M>V | B:924 | (-58.27, -45.31, -121.48) | |
| 5:41142949 | H>P | B:928 | (-65.37, -52.85, -126.94) | |
| 5:41142932 | rs77732988 | A>T | B:934 | (-51.36, -54.93, -131.80) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:41203208 | COSM107030 | G>E | B:42 | (73.57, -50.61, -90.41) |
| 5:41203209 | COSM3616641 | G>R | B:42 | (73.57, -50.61, -90.41) |
| 5:41201788 | COSM1695726 | E>K | B:58 | (95.45, -57.15, -121.66) |
| 5:41199882 | COSM1437618 | R>C | B:145 | (27.51, -43.17, -35.83) |
| 5:41196033 | COSM1600171 | R>C | B:150 | (31.94, -49.75, -41.18) |
| 5:41195973 | COSM3616635 | E>K | B:170 | (35.17, -52.12, -27.68) |
| 5:41186306 | COSM1695725 | H>Y | B:198 | (46.37, -56.22, -60.54) |
| 5:41181619 | COSM3616629 | D>N | B:257 | (50.38, -79.22, -72.43) |
| 5:41181609 | COSM1068313 | S>Y | B:260 | (56.03, -73.80, -78.86) |
| 5:41181562 | COSM1695723 | G>R | B:276 | (36.87, -64.32, -76.52) |
| 5:41181559 | COSM3787061 | S>G | B:277 | (40.65, -64.09, -76.92) |
| 5:41181522 | COSM3855301 | R>K | B:289 | (37.39, -63.68, -67.13) |
| 5:41176678 | COSM1068308 | R>Q | B:356 | (48.25, -43.84, -55.97) |
| 5:41176636 | COSM224908 | S>F | B:370 | (38.35, -72.14, -55.55) |
| 5:41172438 | COSM3616619 | E>K | B:394 | (51.64, -88.26, -78.16) |
| 5:41161821 | COSM1695722 | E>K | B:478 | (48.68, -74.60, -41.79) |
| 5:41160418 | COSM341601 | R>W | B:504 | (29.70, -46.01, -58.47) |
| 5:41160261 | COSM363397 | S>Y | B:556 | (67.92, -71.79, -85.50) |
| 5:41159289 | COSM279429 | S>L | B:584 | (38.43, -40.69, -84.46) |
| 5:41159280 | COSM3429471 | R>Q | B:587 | (44.10, -49.75, -84.03) |
| 5:41159247 | COSM1695718 | G>E | B:598 | (50.16, -63.67, -92.64) |
| 5:41159242 | COSM172891 | R>C | B:600 | (45.50, -58.44, -92.40) |
| 5:41158868 | COSM1695717 | D>N | B:626 | (22.19, -44.29, -55.17) |
| 5:41155163 | COSM3616602 | S>L | B:671 | (-8.22, -19.48, -60.96) |
| 5:41153959 | COSM1695716 | G>E | B:748 | (-24.53, -22.68, -69.75) |
| 5:41153918 | COSM1437606 | E>K | B:762 | (-25.44, -42.33, -90.50) |
| 5:41149541 | COSM3616595 | D>N | B:809 | (-52.38, -57.31, -99.93) |
| 5:41149516 | COSM294200 | K>T | B:817 | (-38.61, -55.30, -93.76) |
| 5:41149498 | COSM3718651 | C>F | B:823 | (-32.56, -59.30, -102.56) |
| 5:41149478 | COSM4481133 | H>Y | B:830 | (-38.94, -59.54, -109.40) |
| 5:41149459 | COSM1695714 | S>F | B:836 | (-44.32, -42.62, -98.46) |
| 5:41149444 | COSM449677 | R>H | B:841 | (-56.14, -41.17, -97.73) |
| 5:41149408 | COSM3616592 | S>L | B:853 | (-45.57, -54.59, -115.08) |
| 5:41149355 | COSM228979 | E>K | B:871 | (-32.56, -44.66, -108.71) |
| 5:41143032 | COSM1695713 | M>I | B:900 | (-60.75, -43.46, -127.78) |