General Structure Information
| PDB ID | 4B7L |
| HGNC Gene Label(s) | FLNB |
| Structure Name | crystal structure of human filamin b actin binding domain with 1st filamin repeat |
| Resolution | 2.05Å |
| Reference | AUTH G.M.SAWYER,A.J.SUTHERLAND-SMITHTITL CRYSTAL STRUCTURE OF THE FILAMIN N-TERMINAL REGION REVEALSTITL 2 A HINGE BETWEEN THE ACTIN BINDING AND FIRST REPEAT DOMAINSREF J.MOL.BIOL. V. 424 240 2012REFN ISSN 0022-2836PMID 23036857DOI 10.1016/J.JMB.2012.09.016 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 328 |
| Number Of SNVs | 54 |
| Number Of Permutations | 51116 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.109014675052 |
| p-value | 0.02064 |
ClinVar
| Number Of Residues | 328 |
| Number Of SNVs | 13 |
| Number Of Permutations | 13163 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.820512820513 |
| p-value | 1.99999999999e-05 |
COSMIC
| Number Of Residues | 328 |
| Number Of SNVs | 24 |
| Number Of Permutations | 42861 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.0688405797101 |
| p-value | 0.3858 |
ClinVar vs. ExAC
Cosmic vs. ExAC
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
[+]ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:57994379 | L>V | A:30 | (15.88, -12.01, 22.56) | |
| 3:57994383 | K>R | A:31 | (15.48, -13.71, 29.75) | |
| 3:57994418 | COSM1617961 COSM1617960 |
D>N | A:43 | (23.70, -14.36, 16.34) |
| 3:57994454 | E>Q | A:55 | (8.05, -9.18, 17.53) | |
| 3:57994464 | S>I | A:58 | (7.05, -3.29, 19.19) | |
| 3:57994473 | R>L | A:61 | (4.06, -11.67, 16.81) | |
| 3:57994475 | rs566615110 | M>L | A:62 | (6.96, -9.15, 12.36) |
| 3:57994488 | Y>C | A:66 | (9.11, -14.56, 9.51) | |
| 3:57994496 | rs369273712 | R>W | A:69 | (13.27, -24.89, 9.47) |
| 3:57994524 | E>G | A:78 | (14.40, -12.67, 1.69) | |
| 3:57994559 | E>K | A:90 | (7.34, 1.24, 13.56) | |
| 3:57994563 | rs555125243 | S>T | A:91 | (8.73, 5.91, 12.17) |
| 3:57994565 | rs62622011 | I>V | A:92 | (12.41, 3.01, 14.61) |
| 3:58062775 | rs201852092 | S>G | A:99 | (19.83, -6.14, 3.98) |
| 3:58062790 | D>Y | A:104 | (27.29, -9.64, 5.51) | |
| 3:58062797 | N>S | A:106 | (28.94, -4.26, 8.99) | |
| 3:58062798 | N>K | A:106 | (28.94, -4.26, 8.99) | |
| 3:58062809 | I>T | A:110 | (25.21, -5.23, 13.59) | |
| 3:58062820 | V>L | A:114 | (21.52, -2.68, 19.00) | |
| 3:58062827 | rs201165196 COSM1207231 COSM1207230 |
T>M | A:116 | (18.57, 2.96, 16.73) |
| 3:58062842 | rs147846832 | Y>F | A:121 | (11.65, 0.68, 21.43) |
| 3:58062892 | K>Q | A:138 | (13.27, 21.47, 22.44) | |
| 3:58062899 | T>M | A:140 | (18.20, 15.48, 23.95) | |
| 3:58062919 | rs370470693 | G>W | A:147 | (18.08, 14.63, 34.71) |
| 3:58062941 | P>R | A:154 | (20.44, 14.76, 45.56) | |
| 3:58062956 | T>I | A:159 | (27.57, 16.48, 34.90) | |
| 3:58062964 | N>Y | A:162 | (31.93, 8.99, 31.43) | |
| 3:58063008 | rs202241565 | D>E | A:176 | (20.12, 3.96, 48.63) |
| 3:58064465 | rs141109540 | S>C | A:188 | (30.81, 5.83, 54.07) |
| 3:58064479 | rs181769752 | K>Q | A:193 | (38.04, -0.71, 48.48) |
| 3:58064488 | D>N | A:196 | (34.31, -3.74, 45.61) | |
| 3:58064530 | G>R | A:210 | (15.13, -5.77, 39.06) | |
| 3:58067359 | rs367648404 | I>V | A:215 | (27.48, -2.37, 32.23) |
| 3:58067363 | T>I | A:216 | (29.94, -6.07, 33.89) | |
| 3:58067384 | rs574643677 | P>L | A:223 | (39.27, 3.70, 32.11) |
| 3:58067399 | H>L | A:228 | (26.18, 5.32, 23.65) | |
| 3:58067446 | P>A | A:244 | (8.05, -7.99, 47.57) | |
| 3:58067459 | L>P | A:248 | (14.75, -1.89, 52.66) | |
| 3:58067492 | rs376619286 | A>V | A:259 | (11.13, 6.18, 74.61) |
| 3:58067495 | Y>C | A:260 | (14.08, 4.34, 78.12) | |
| 3:58080571 | P>S | A:266 | (0.79, 4.62, 81.30) | |
| 3:58080581 | N>T | A:269 | (3.72, 10.65, 85.82) | |
| 3:58080583 | rs145036794 | M>V | A:270 | (2.97, 13.14, 91.45) |
| 3:58080594 | COSM4119584 COSM4119585 COSM4119583 |
Q>H | A:273 | (6.22, 16.45, 91.17) |
| 3:58080619 | I>V | A:282 | (22.71, 3.84, 69.66) | |
| 3:58080622 | S>G | A:283 | (20.02, 2.35, 66.21) | |
| 3:58080623 | S>N | A:283 | (20.02, 2.35, 66.21) | |
| 3:58080640 | V>M | A:289 | (15.54, 14.12, 70.20) | |
| 3:58080646 | COSM1178973 COSM1178972 |
V>M | A:291 | (9.95, 15.99, 73.26) |
| 3:58080647 | V>A | A:291 | (9.95, 15.99, 73.26) | |
| 3:58080656 | E>G | A:294 | (-1.19, 17.95, 73.97) | |
| 3:58081872 | rs147591946 | Q>R | A:304 | (14.80, 20.78, 79.12) |
| 3:58081907 | S>A | A:316 | (17.78, 13.36, 79.29) | |
| 3:58081934 | G>R | A:325 | (-5.25, 14.34, 83.18) | |
| 3:58081940 | H>Y | A:327 | (-0.96, 15.19, 80.10) | |
| 3:58083552 | L>H | A:332 | (9.13, 14.46, 66.82) | |
| 3:58083557 | A>S | A:334 | (14.52, 13.69, 62.29) | |
| 3:57994379 | L>V | B:30 | (-7.49, -2.72, 46.78) | |
| 3:57994383 | K>R | B:31 | (-6.50, -4.56, 39.84) | |
| 3:57994418 | COSM1617961 COSM1617960 |
D>N | B:43 | (-15.89, -4.47, 52.54) |
| 3:57994454 | E>Q | B:55 | (0.00, 0.00, 52.38) | |
| 3:57994464 | S>I | B:58 | (1.40, 5.58, 50.39) | |
| 3:57994473 | R>L | B:61 | (4.04, -2.24, 52.93) | |
| 3:57994475 | rs566615110 | M>L | B:62 | (0.79, 0.16, 57.58) |
| 3:57994488 | Y>C | B:66 | (-1.92, -4.93, 60.81) | |
| 3:57994496 | rs369273712 | R>W | B:69 | (-6.95, -13.75, 61.58) |
| 3:57994524 | E>G | B:78 | (-7.95, -1.87, 67.83) | |
| 3:57994559 | E>K | B:90 | (0.77, 10.47, 54.76) | |
| 3:57994563 | rs555125243 | S>T | B:91 | (0.26, 15.35, 55.08) |
| 3:57994565 | rs62622011 | I>V | B:92 | (-4.11, 13.91, 53.20) |
| 3:58062775 | rs201852092 | S>G | B:99 | (-12.52, 4.55, 64.09) |
| 3:58062790 | D>Y | B:104 | (-20.21, 1.29, 62.76) | |
| 3:58062797 | N>S | B:106 | (-21.20, 6.33, 58.77) | |
| 3:58062798 | N>K | B:106 | (-21.20, 6.33, 58.77) | |
| 3:58062809 | I>T | B:110 | (-17.15, 4.93, 54.53) | |
| 3:58062820 | V>L | B:114 | (-12.90, 7.07, 49.39) | |
| 3:58062827 | rs201165196 COSM1207231 COSM1207230 |
T>M | B:116 | (-9.96, 12.92, 51.21) |
| 3:58062842 | rs147846832 | Y>F | B:121 | (-2.94, 9.72, 47.19) |
| 3:58062892 | K>Q | B:138 | (-3.83, 31.93, 45.51) | |
| 3:58062899 | T>M | B:140 | (-8.76, 24.63, 43.71) | |
| 3:58062919 | rs370470693 | G>W | B:147 | (-7.68, 23.35, 33.05) |
| 3:58062941 | P>R | B:154 | (-9.56, 24.08, 22.71) | |
| 3:58062956 | T>I | B:159 | (-17.12, 25.56, 32.67) | |
| 3:58062964 | N>Y | B:162 | (-22.30, 18.33, 36.09) | |
| 3:58063008 | rs202241565 | D>E | B:176 | (-10.48, 12.07, 19.52) |
| 3:58064465 | rs141109540 | S>C | B:188 | (-21.33, 13.88, 14.07) |
| 3:58064479 | rs181769752 | K>Q | B:193 | (-28.60, 8.32, 19.79) |
| 3:58064488 | D>N | B:196 | (-24.93, 5.23, 22.62) | |
| 3:58064530 | G>R | B:210 | (-5.90, 2.55, 29.49) | |
| 3:58067359 | rs367648404 | I>V | B:215 | (-18.14, 6.65, 35.99) |
| 3:58067363 | T>I | B:216 | (-20.65, 2.85, 34.41) | |
| 3:58067384 | rs574643677 | P>L | B:223 | (-30.03, 12.75, 34.85) |
| 3:58067399 | H>L | B:228 | (-17.14, 14.99, 44.01) | |
| 3:58067446 | P>A | B:244 | (1.23, -0.42, 21.58) | |
| 3:58067459 | L>P | B:248 | (-5.31, 5.67, 15.81) | |
| 3:58067492 | rs376619286 | A>V | B:259 | (5.17, 22.58, 11.10) |
| 3:58067495 | Y>C | B:260 | (8.67, 20.04, 13.39) | |
| 3:58080571 | P>S | B:266 | (10.99, 33.56, 13.24) | |
| 3:58080581 | N>T | B:269 | (16.33, 31.01, 7.66) | |
| 3:58080583 | rs145036794 | M>V | B:270 | (21.81, 32.55, 6.29) |
| 3:58080594 | COSM4119584 COSM4119585 COSM4119583 |
Q>H | B:273 | (22.06, 28.19, 4.24) |
| 3:58080619 | I>V | B:282 | (1.13, 11.41, 12.93) | |
| 3:58080622 | S>G | B:283 | (-3.16, 13.35, 14.09) | |
| 3:58080623 | S>N | B:283 | (-3.16, 13.35, 14.09) | |
| 3:58080640 | V>M | B:289 | (1.77, 18.03, 2.24) | |
| 3:58080646 | COSM1178973 COSM1178972 |
V>M | B:291 | (4.98, 23.52, 0.87) |
| 3:58080647 | V>A | B:291 | (4.98, 23.52, 0.87) | |
| 3:58080656 | E>G | B:294 | (5.23, 34.46, -1.06) | |
| 3:58081872 | rs147591946 | Q>R | B:304 | (11.84, 18.97, -2.25) |
| 3:58081907 | S>A | B:316 | (11.10, 15.88, 4.63) | |
| 3:58081934 | G>R | B:325 | (13.84, 39.39, 3.51) | |
| 3:58081940 | H>Y | B:327 | (10.94, 35.04, 2.38) | |
| 3:58083552 | L>H | B:332 | (-1.72, 24.44, 1.61) | |
| 3:58083557 | A>S | B:334 | (-6.16, 18.79, 1.88) |
[+]ClinVar Missense Variants
| 3:58062922 | rs80356493 | W>R | A:148 | (15.32, 9.43, 36.90) |
| 3:58062962 | rs80356506 | F>C | A:161 | (25.70, 9.20, 31.20) |
| 3:58062982 | rs80356504 | G>S | A:168 | (31.19, 3.46, 42.22) |
| 3:58062992 | rs80356494 | L>Q | A:171 | (26.58, 2.75, 40.53) |
| 3:58062998 | rs121908894 | A>V | A:173 | (23.87, 7.06, 45.59) |
| 3:58064451 | rs80356496 | C>W | A:183 | (23.21, 1.16, 49.26) |
| 3:58064504 | rs80356499 | A>V | A:201 | (25.50, -1.04, 43.98) |
| 3:58064506 | rs121908895 | M>V | A:202 | (25.61, -3.09, 39.45) |
| 3:58064510 | rs80356497 | Q>P | A:203 | (24.05, -8.08, 42.96) |
| 3:58064531 | rs80356500 | G>V | A:210 | (15.13, -5.77, 39.06) |
| 3:58067395 | rs80356508 | E>K | A:227 | (29.12, 7.93, 27.24) |
| 3:58067416 | rs80356507 | L>V | A:234 | (22.33, 4.40, 34.56) |
| 3:58067419 | rs121908896 | S>P | A:235 | (18.06, 3.26, 30.95) |
| 3:58062922 | rs80356493 | W>R | B:148 | (-5.36, 17.86, 31.02) |
| 3:58062962 | rs80356506 | F>C | B:161 | (-16.02, 18.27, 36.33) |
| 3:58062982 | rs80356504 | G>S | B:168 | (-21.55, 12.42, 25.82) |
| 3:58062992 | rs80356494 | L>Q | B:171 | (-16.98, 11.56, 27.58) |
| 3:58062998 | rs121908894 | A>V | B:173 | (-14.14, 15.38, 22.27) |
| 3:58064451 | rs80356496 | C>W | B:183 | (-13.42, 9.26, 18.97) |
| 3:58064504 | rs80356499 | A>V | B:201 | (-15.96, 7.41, 24.28) |
| 3:58064506 | rs121908895 | M>V | B:202 | (-16.23, 5.62, 28.86) |
| 3:58064510 | rs80356497 | Q>P | B:203 | (-14.88, 0.41, 25.63) |
| 3:58064531 | rs80356500 | G>V | B:210 | (-5.90, 2.55, 29.49) |
| 3:58067395 | rs80356508 | E>K | B:227 | (-19.23, 17.65, 39.89) |
| 3:58067416 | rs80356507 | L>V | B:234 | (-12.91, 13.11, 33.45) |
| 3:58067419 | rs121908896 | S>P | B:235 | (-8.74, 12.16, 37.21) |
[+]COSMIC Missense Variants
| 3:57994401 | COSM3380668 | I>T | A:37 | (22.29, -12.37, 20.81) |
| 3:57994418 | COSM1617960 | D>N | A:43 | (23.70, -14.36, 16.34) |
| 3:58064518 | COSM4005605 | D>N | A:206 | (20.07, -7.33, 40.21) |
| 3:57994401 | COSM3380668 | I>T | B:37 | (-13.72, -2.97, 48.15) |
| 3:57994418 | COSM1617960 | D>N | B:43 | (-15.89, -4.47, 52.54) |
| 3:58064518 | COSM4005605 | D>N | B:206 | (-10.86, 1.10, 28.45) |