General Structure Information
| PDB ID | 2bxe |
| HGNC Gene Label(s) | ALB |
| Structure Name | human serum albumin complexed with diflunisal |
| Resolution | 2.95Å |
| Reference | AUTH J.GHUMAN,P.A.ZUNSZAIN,I.PETITPAS,A.A.BHATTACHARYA,AUTH 2 M.OTAGIRI,S.CURRYTITL STRUCTURAL BASIS OF THE DRUG-BINDING SPECIFICITYTITL 2 OF HUMAN SERUM ALBUMIN.REF J.MOL.BIOL. V. 353 38 2005REFN ISSN 0022-2836PMID 16169013DOI 10.1016/J.JMB.2005.07.075 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 566 |
| Number Of SNVs | 126 |
| Number Of Permutations | 64598 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.027 |
| p-value | 0.668 |
ClinVar
| Number Of Residues | 566 |
| Number Of SNVs | 32 |
| Number Of Permutations | 23066 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | 0.25 |
| p-value | 0.329 |
COSMIC
| Number Of Residues | 566 |
| Number Of SNVs | 18 |
| Number Of Permutations | 15777 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.275 |
| p-value | 0.005 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 126 |
| Number Of ClinVar SNVs | 32 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | -0.06 |
| p-value | 0.411 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 126 |
| Number Of COSMIC SNVs | 18 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.146 |
| p-value | 0.008 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:74270839 | rs527522238 | S>N | B:5 | (30.36, 18.11, 33.09) |
| 4:74270844 | V>I | B:7 | (35.32, 18.07, 34.63) | |
| 4:74270854 | R>Q | B:10 | (35.46, 23.57, 37.64) | |
| 4:74270862 | rs374543070 COSM1694528 |
D>N | B:13 | (36.85, 28.44, 34.43) |
| 4:74270863 | D>G | B:13 | (36.85, 28.44, 34.43) | |
| 4:74272347 | rs372694396 | V>M | B:23 | (44.78, 17.51, 39.86) |
| 4:74272368 | Y>H | B:30 | (43.23, 13.05, 49.02) | |
| 4:74272392 | rs560085213 | D>N | B:38 | (52.26, 6.24, 40.19) |
| 4:74272399 | V>A | B:40 | (52.10, 12.27, 36.83) | |
| 4:74272416 | rs368276725 | V>I | B:46 | (42.28, 13.04, 34.64) |
| 4:74272431 | K>E | B:51 | (40.86, 17.19, 26.79) | |
| 4:74272476 | L>V | B:66 | (34.95, 16.04, 40.99) | |
| 4:74274312 | H>R | B:67 | (34.68, 14.06, 45.46) | |
| 4:74274315 | T>N | B:68 | (33.57, 9.81, 41.99) | |
| 4:74274338 | T>A | B:76 | (44.47, 2.41, 41.01) | |
| 4:74274378 | D>G | B:89 | (40.32, 0.70, 54.68) | |
| 4:74274407 | N>H | B:99 | (36.26, 11.87, 50.37) | |
| 4:74274427 | H>Q | B:105 | (43.62, 8.63, 56.83) | |
| 4:74274443 | rs200853688 | N>D | B:111 | (58.36, 9.30, 57.85) |
| 4:74274446 | rs567246153 COSM1694529 |
L>V | B:112 | (58.67, 11.66, 54.20) |
| 4:74274449 | P>S | B:113 | (62.65, 11.70, 52.99) | |
| 4:74274453 | COSM2149813 | R>Q | B:114 | (64.48, 15.14, 54.02) |
| 4:74274458 | V>M | B:116 | (68.43, 17.67, 49.76) | |
| 4:74274470 | V>L | B:120 | (73.37, 25.49, 41.76) | |
| 4:74275079 | Y>H | B:140 | (55.11, 14.77, 44.88) | |
| 4:74275101 | P>L | B:147 | (48.49, 18.22, 53.69) | |
| 4:74275113 | A>D | B:151 | (46.36, 25.79, 46.39) | |
| 4:74275116 | rs375860190 | P>L | B:152 | (45.57, 28.63, 45.05) |
| 4:74275120 | rs149432908 | E>D | B:153 | (48.96, 31.27, 47.26) |
| 4:74275127 | rs202225218 | F>L | B:156 | (52.48, 33.24, 43.61) |
| 4:74275152 | A>D | B:164 | (64.32, 31.68, 39.92) | |
| 4:74275158 | T>I | B:166 | (64.95, 31.76, 34.61) | |
| 4:74275170 | Q>L | B:170 | (72.19, 32.74, 33.58) | |
| 4:74275172 | rs148571509 | A>T | B:171 | (74.62, 33.59, 36.26) |
| 4:74275185 | A>G | B:175 | (74.77, 30.28, 43.68) | |
| 4:74275188 | rs201281958 | A>V | B:176 | (74.67, 33.74, 44.86) |
| 4:74275203 | K>R | B:181 | (65.66, 33.01, 46.45) | |
| 4:74276032 | COSM3605667 | D>N | B:183 | (66.40, 30.38, 51.35) |
| 4:74276034 | rs146587652 | D>E | B:183 | (66.40, 30.38, 51.35) |
| 4:74276045 | D>V | B:187 | (60.03, 30.68, 54.70) | |
| 4:74276056 | rs3210154 | A>T | B:191 | (54.22, 30.66, 56.84) |
| 4:74276077 | L>F | B:198 | (44.99, 28.27, 62.12) | |
| 4:74276089 | COSM1430911 | S>R | B:202 | (39.23, 26.89, 62.58) |
| 4:74276105 | COSM3605670 | G>E | B:207 | (33.55, 26.08, 63.06) |
| 4:74276113 | rs377345537 | A>T | B:210 | (34.92, 30.92, 64.15) |
| 4:74277723 | R>C | B:218 | (42.66, 40.74, 59.69) | |
| 4:74277724 | rs75002628 | R>H | B:218 | (42.66, 40.74, 59.69) |
| 4:74277733 | Q>R | B:221 | (41.73, 45.33, 61.11) | |
| 4:74277774 | V>L | B:235 | (33.00, 36.93, 55.19) | |
| 4:74277786 | T>A | B:239 | (33.95, 30.98, 54.30) | |
| 4:74277799 | T>M | B:243 | (35.34, 25.47, 53.21) | |
| 4:74279147 | A>G | B:261 | (39.28, 38.75, 42.85) | |
| 4:74279174 | COSM256286 | S>W | B:270 | (33.20, 50.23, 47.88) |
| 4:74279204 | E>V | B:280 | (46.75, 45.15, 37.73) | |
| 4:74279206 | rs377046738 | K>Q | B:281 | (49.38, 42.90, 39.33) |
| 4:74279209 | P>T | B:282 | (48.41, 38.99, 36.98) | |
| 4:74279210 | P>L | B:282 | (48.41, 38.99, 36.98) | |
| 4:74279227 | H>D | B:288 | (49.81, 37.03, 47.06) | |
| 4:74279239 | rs150388973 | E>K | B:292 | (50.12, 40.70, 51.70) |
| 4:74279243 | V>A | B:293 | (46.41, 44.57, 51.42) | |
| 4:74279252 | rs554024329 | D>V | B:296 | (42.38, 51.88, 54.20) |
| 4:74279263 | rs201904433 | A>P | B:300 | (37.64, 60.49, 60.45) |
| 4:74279264 | A>G | B:300 | (37.64, 60.49, 60.45) | |
| 4:74279303 | rs564591733 | K>R | B:313 | (18.36, 50.65, 75.79) |
| 4:74279304 | rs72552710 | K>N | B:313 | (18.36, 50.65, 75.79) |
| 4:74279308 | rs200564366 | V>I | B:315 | (21.51, 46.42, 73.79) |
| 4:74279317 | rs11538223 | N>D | B:318 | (19.04, 44.80, 69.18) |
| 4:74279333 | K>R | B:323 | (22.14, 36.93, 69.62) | |
| 4:74279334 | K>N | B:323 | (22.14, 36.93, 69.62) | |
| 4:74279337 | D>E | B:324 | (25.46, 36.14, 65.33) | |
| 4:74279347 | G>S | B:328 | (29.27, 41.36, 64.23) | |
| 4:74279351 | rs79568748 | M>T | B:329 | (27.42, 44.95, 63.78) |
| 4:74280766 | rs537985931 | Y>C | B:334 | (36.68, 47.59, 69.43) |
| 4:74280776 | R>S | B:337 | (36.51, 52.28, 65.56) | |
| 4:74280780 | P>T | B:339 | (44.70, 48.76, 63.80) | |
| 4:74280787 | Y>S | B:341 | (43.74, 46.28, 69.75) | |
| 4:74280795 | V>M | B:344 | (43.10, 37.14, 69.11) | |
| 4:74280820 | T>I | B:352 | (33.86, 39.39, 77.16) | |
| 4:74280823 | Y>C | B:353 | (29.48, 42.85, 74.47) | |
| 4:74280828 | T>S | B:355 | (29.41, 36.63, 78.33) | |
| 4:74280831 | T>A | B:356 | (28.33, 40.61, 79.64) | |
| 4:74280837 | rs75791663 | E>K | B:358 | (23.89, 35.59, 77.62) |
| 4:74280859 | rs78538497 | D>V | B:365 | (18.93, 46.19, 85.31) |
| 4:74280865 | H>R | B:367 | (21.77, 49.09, 81.96) | |
| 4:74280870 | rs11538215 | C>S | B:369 | (24.79, 44.95, 84.26) |
| 4:74280873 | Y>N | B:370 | (24.62, 46.69, 79.59) | |
| 4:74281976 | rs77514449 | D>N | B:375 | (35.90, 48.78, 82.84) |
| 4:74281978 | D>E | B:375 | (35.90, 48.78, 82.84) | |
| 4:74281979 | rs79047363 | E>Q | B:376 | (35.31, 43.45, 82.03) |
| 4:74282006 | rs75946332 CM052166 |
Q>K | B:385 | (50.19, 45.37, 76.32) |
| 4:74282062 | COSM3605680 | F>L | B:403 | (63.95, 33.55, 73.64) |
| 4:74283255 | rs141626688 | V>I | B:409 | (62.98, 24.96, 79.79) |
| 4:74283258 | rs78575701 | R>C | B:410 | (59.33, 29.01, 79.89) |
| 4:74283288 | T>S | B:420 | (61.52, 15.64, 72.32) | |
| 4:74283292 | P>L | B:421 | (60.58, 15.97, 68.75) | |
| 4:74283294 | T>A | B:422 | (57.00, 18.30, 69.10) | |
| 4:74283322 | COSM3605682 | G>A | B:431 | (61.37, 32.20, 69.11) |
| 4:74283330 | G>R | B:434 | (61.12, 37.64, 68.37) | |
| 4:74283338 | K>N | B:436 | (58.33, 38.21, 62.93) | |
| 4:74283382 | D>A | B:451 | (48.10, 36.93, 65.95) | |
| 4:74283811 | V>M | B:455 | (50.27, 29.99, 63.96) | |
| 4:74283814 | rs372174571 | V>I | B:456 | (52.96, 28.17, 66.72) |
| 4:74283824 | rs146129389 | Q>R | B:459 | (52.71, 23.46, 64.92) |
| 4:74283828 | L>F | B:460 | (51.44, 21.87, 69.84) | |
| 4:74283840 | rs140110916 | H>Q | B:464 | (48.81, 16.28, 71.13) |
| 4:74283860 | D>G | B:471 | (45.45, 15.37, 79.58) | |
| 4:74283881 | rs60826059 | T>I | B:478 | (39.73, 21.69, 72.90) |
| 4:74283893 | rs571711778 | V>A | B:482 | (40.66, 32.87, 71.41) |
| 4:74283902 | rs200002649 | R>Q | B:485 | (48.62, 33.23, 75.24) |
| 4:74283928 | rs75920790 | D>N | B:494 | (52.99, 18.48, 85.59) |
| 4:74283934 | rs148518742 | T>A | B:496 | (51.35, 14.61, 88.04) |
| 4:74283940 | V>I | B:498 | (56.80, 10.47, 86.97) | |
| 4:74283949 | rs75523493 | E>K | B:501 | (64.73, 6.05, 85.17) |
| 4:74283973 | rs538903199 | F>L | B:509 | (77.90, 11.73, 71.68) |
| 4:74283975 | F>L | B:509 | (77.90, 11.73, 71.68) | |
| 4:74283977 | H>R | B:510 | (79.04, 11.20, 68.22) | |
| 4:74283979 | A>T | B:511 | (81.36, 12.15, 65.48) | |
| 4:74284009 | R>G | B:521 | (76.31, 22.25, 66.37) | |
| 4:74284010 | COSM3775976 | R>K | B:521 | (76.31, 22.25, 66.37) |
| 4:74285226 | A>V | B:528 | (69.31, 17.42, 75.14) | |
| 4:74285231 | V>L | B:530 | (64.32, 18.20, 76.25) | |
| 4:74285240 | rs78284052 | V>M | B:533 | (63.94, 18.83, 81.69) |
| 4:74285249 | rs77645174 | K>E | B:536 | (65.02, 17.02, 86.17) |
| 4:74285253 | P>L | B:537 | (61.77, 18.22, 86.22) | |
| 4:74285261 | rs61579038 | T>A | B:540 | (67.12, 25.25, 88.48) |
| 4:74285277 | K>R | B:545 | (73.01, 26.21, 82.46) | |
| 4:74285292 | rs79738788 | D>G | B:550 | (79.43, 22.25, 81.18) |
| 4:74285297 | rs200401551 | A>T | B:552 | (79.77, 23.25, 75.17) |
| 4:74285300 | A>P | B:553 | (82.77, 21.76, 76.36) | |
| 4:74285305 | F>L | B:554 | (81.39, 18.54, 75.41) | |
| 4:74285321 | rs76671808 | K>E | B:560 | (89.40, 19.17, 68.83) |
| 4:74285327 | D>Y | B:562 | (92.68, 12.44, 65.93) | |
| 4:74285351 | rs79228041 | E>K | B:570 | (86.03, 8.75, 76.02) |
| 4:74285972 | G>A | B:572 | (82.03, 10.94, 77.35) | |
| 4:74285975 | K>R | B:573 | (83.39, 10.10, 80.20) | |
| 4:74285983 | rs201202407 | V>L | B:576 | (78.42, 11.41, 81.89) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:74272458 | rs77050410 | E>K | B:60 | (31.26, 8.22, 29.73) |
| 4:74272467 | rs78574148 | D>N | B:63 | (27.86, 12.02, 34.77) |
| 4:74272477 | rs77892378 | L>P | B:66 | (34.95, 16.04, 40.99) |
| 4:74274467 | rs75522063 | E>K | B:119 | (73.96, 21.75, 43.45) |
| 4:74274495 | rs80095457 | H>R | B:128 | (67.49, 24.12, 31.36) |
| 4:74275080 | rs78283180 | Y>C | B:140 | (55.11, 14.77, 44.88) |
| 4:74275191 | rs77656691 | C>F | B:177 | (71.21, 34.06, 42.68) |
| 4:74277724 | rs75002628 | R>H | B:218 | (42.66, 40.74, 59.69) |
| 4:74277744 | rs79804069 | K>Q | B:225 | (36.81, 53.36, 54.42) |
| 4:74277789 | rs79377490 | K>E | B:240 | (33.63, 29.11, 50.66) |
| 4:74279168 | rs80002911 | Q>R | B:268 | (38.69, 49.03, 43.66) |
| 4:74279193 | rs74718349 | K>N | B:276 | (45.02, 49.50, 42.79) |
| 4:74279304 | rs72552710 | K>N | B:313 | (18.36, 50.65, 75.79) |
| 4:74279319 | rs77544362 | N>K | B:318 | (19.04, 44.80, 69.18) |
| 4:74279323 | rs78953271 | A>T | B:320 | (17.80, 38.90, 70.80) |
| 4:74279326 | rs72552711 | E>K | B:321 | (16.98, 39.53, 67.41) |
| 4:74280762 | rs77354753 | E>K | B:333 | (32.09, 49.28, 64.44) |
| 4:74280825 | rs76593094 | E>K | B:354 | (28.73, 36.75, 73.86) |
| 4:74280837 | rs75791663 | E>K | B:358 | (23.89, 35.59, 77.62) |
| 4:74280858 | rs77187142 | D>H | B:365 | (18.93, 46.19, 85.31) |
| 4:74280859 | rs78538497 | D>V | B:365 | (18.93, 46.19, 85.31) |
| 4:74280879 | rs78166690 | K>E | B:372 | (31.09, 49.18, 83.46) |
| 4:74281976 | rs77514449 | D>N | B:375 | (35.90, 48.78, 82.84) |
| 4:74281979 | rs79047363 | E>K | B:376 | (35.31, 43.45, 82.03) |
| 4:74281997 | rs76483862 | E>K | B:382 | (47.10, 45.88, 80.48) |
| 4:74283883 | rs80259813 | E>K | B:479 | (38.64, 25.26, 76.72) |
| 4:74283928 | rs75920790 | D>N | B:494 | (52.99, 18.48, 85.59) |
| 4:74283949 | rs75523493 | E>K | B:501 | (64.73, 6.05, 85.17) |
| 4:74283961 | rs74826639 | E>K | B:505 | (71.28, 6.23, 74.08) |
| 4:74285249 | rs77645174 | K>E | B:536 | (65.02, 17.02, 86.17) |
| 4:74285330 | rs76587671 | D>N | B:563 | (89.84, 9.95, 67.38) |
| 4:74285336 | rs75709682 | E>K | B:565 | (86.47, 6.90, 67.55) |
| 4:74285351 | rs79228041 | E>K | B:570 | (86.03, 8.75, 76.02) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:74274453 | COSM2149813 | R>Q | B:114 | (64.48, 15.14, 54.02) |
| 4:74275124 | COSM3918115 | L>F | B:155 | (49.76, 27.65, 41.45) |
| 4:74276041 | COSM1057400 | R>W | B:186 | (62.00, 27.35, 52.93) |
| 4:74276060 | COSM1694530 | S>L | B:192 | (51.64, 29.89, 54.14) |
| 4:74277715 | COSM2831117 | A>V | B:215 | (36.86, 37.48, 59.17) |
| 4:74277718 | COSM1619049 | V>A | B:216 | (34.49, 40.18, 60.45) |
| 4:74277741 | COSM3605671 | P>S | B:224 | (38.31, 50.73, 57.36) |
| 4:74279164 | COSM1619050 | N>Y | B:267 | (33.50, 46.74, 43.82) |
| 4:74279174 | COSM256286 | S>L | B:270 | (33.20, 50.23, 47.88) |
| 4:74279188 | COSM1619051 | L>V | B:275 | (42.91, 47.29, 46.27) |
| 4:74279225 | COSM1694533 | S>F | B:287 | (44.79, 37.03, 44.66) |
| 4:74279228 | COSM1430914 | H>R | B:288 | (49.81, 37.03, 47.06) |
| 4:74280777 | COSM1753828 | H>Y | B:338 | (41.08, 49.43, 67.63) |
| 4:74280861 | COSM109414 | P>S | B:366 | (19.82, 45.54, 82.00) |
| 4:74281975 | COSM4954421 | F>L | B:374 | (33.89, 49.15, 77.14) |
| 4:74282067 | COSM3661192 | N>T | B:405 | (67.32, 27.21, 74.87) |
| 4:74283258 | COSM3605681 | R>C | B:410 | (59.33, 29.01, 79.89) |
| 4:74283809 | COSM229709 | S>F | B:454 | (48.11, 31.46, 67.18) |
| 4:74284001 | COSM3661193 | E>V | B:518 | (75.63, 24.99, 63.21) |