General Structure Information
| PDB ID | 1bhg |
| HGNC Gene Label(s) | GUSB |
| Structure Name | human beta-glucuronidase at 2.6 a resolution |
| Resolution | 2.53Å |
| Reference | AUTH S.JAIN,W.B.DRENDEL,Z.W.CHEN,F.S.MATHEWS,W.S.SLY,J.H.GRUBBTITL STRUCTURE OF HUMAN BETA-GLUCURONIDASE REVEALS CANDIDATETITL 2 LYSOSOMAL TARGETING AND ACTIVE-SITE MOTIFS.REF NAT.STRUCT.BIOL. V. 3 375 1996REFN ISSN 1072-8368PMID 8599764DOI 10.1038/NSB0496-375 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 611 |
| Number Of SNVs | 148 |
| Number Of Permutations | 63705 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.015 |
| p-value | 0.932 |
ClinVar
| Number Of Residues | 611 |
| Number Of SNVs | 16 |
| Number Of Permutations | 10233 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.317 |
| p-value | 0.279 |
COSMIC
| Number Of Residues | 611 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1865 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.048 |
| p-value | 0.397 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 148 |
| Number Of ClinVar SNVs | 16 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.013 |
| p-value | 0.299 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 148 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.063 |
| p-value | 0.562 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:65447085 | Y>C | A:29 | (84.81, 70.92, 60.68) | |
| 7:65447071 | P>S | A:34 | (83.29, 65.07, 46.93) | |
| 7:65447060 | E>D | A:37 | (90.10, 66.16, 54.95) | |
| 7:65447059 | C>R | A:38 | (95.08, 66.21, 55.34) | |
| 7:65447053 | E>K | A:40 | (98.97, 68.53, 60.27) | |
| 7:65447047 | D>Y | A:42 | (97.83, 64.36, 64.61) | |
| 7:65447033 | S>R | A:46 | (109.59, 71.29, 65.68) | |
| 7:65447014 | rs371314015 | D>N | A:53 | (115.82, 90.14, 76.07) |
| 7:65447010 | rs557347158 | N>S | A:54 | (114.06, 91.33, 72.91) |
| 7:65447005 | rs147262894 | R>C | A:56 | (115.47, 87.65, 71.68) |
| 7:65447001 | R>L | A:57 | (118.08, 86.25, 68.83) | |
| 7:65446986 | rs571736757 | Q>R | A:62 | (114.35, 86.60, 59.11) |
| 7:65446974 | R>L | A:66 | (117.66, 79.42, 57.05) | |
| 7:65446975 | R>W | A:66 | (117.66, 79.42, 57.05) | |
| 7:65445390 | P>T | A:73 | (118.48, 74.83, 70.11) | |
| 7:65445377 | M>R | A:77 | (105.59, 70.03, 70.91) | |
| 7:65445374 | P>L | A:78 | (102.66, 67.78, 70.99) | |
| 7:65445375 | P>A | A:78 | (102.66, 67.78, 70.99) | |
| 7:65445356 | N>S | A:84 | (102.37, 75.17, 79.39) | |
| 7:65445347 | S>I | A:87 | (108.17, 70.17, 80.17) | |
| 7:65445348 | S>G | A:87 | (108.17, 70.17, 80.17) | |
| 7:65445335 | rs147454954 | R>H | A:91 | (112.69, 79.44, 83.41) |
| 7:65445336 | R>C | A:91 | (112.69, 79.44, 83.41) | |
| 7:65445329 | R>Q | A:93 | (103.89, 76.39, 83.50) | |
| 7:65445330 | R>W | A:93 | (103.89, 76.39, 83.50) | |
| 7:65445321 | COSM1488635 | V>F | A:96 | (105.77, 85.73, 78.31) |
| 7:65445317 | G>D | A:97 | (105.82, 85.48, 73.96) | |
| 7:65445318 | G>S | A:97 | (105.82, 85.48, 73.96) | |
| 7:65445274 | W>C | A:111 | (97.14, 67.93, 47.68) | |
| 7:65445276 | rs200935970 | W>G | A:111 | (97.14, 67.93, 47.68) |
| 7:65445267 | D>Y | A:114 | (94.38, 69.24, 38.99) | |
| 7:65445255 | R>G | A:118 | (90.29, 75.95, 48.01) | |
| 7:65445242 | R>K | A:122 | (91.18, 75.33, 59.29) | |
| 7:65445227 | H>R | A:127 | (97.13, 82.79, 72.41) | |
| 7:65445224 | S>F | A:128 | (97.15, 86.48, 71.16) | |
| 7:65445216 | I>V | A:131 | (102.85, 84.72, 62.07) | |
| 7:65444888 | G>A | A:136 | (106.85, 81.56, 50.61) | |
| 7:65444879 | T>M | A:139 | (100.19, 82.88, 54.37) | |
| 7:65444845 | COSM3640095 | E>D | A:150 | (90.63, 79.56, 56.10) |
| 7:65444841 | rs149606212 | D>N | A:152 | (96.05, 78.99, 50.09) |
| 7:65444793 | I>V | A:168 | (104.20, 74.67, 58.04) | |
| 7:65444787 | I>V | A:170 | (103.21, 78.73, 63.39) | |
| 7:65444784 | A>T | A:171 | (104.15, 82.21, 65.62) | |
| 7:65444769 | rs121918181 | L>F | A:176 | (96.98, 88.45, 78.15) |
| 7:65444762 | P>L | A:178 | (95.06, 95.94, 77.25) | |
| 7:65444763 | rs11559281 | P>T | A:178 | (95.06, 95.94, 77.25) |
| 7:65444747 | P>L | A:183 | (91.79, 90.77, 79.57) | |
| 7:65444735 | Q>R | A:187 | (104.39, 96.36, 85.25) | |
| 7:65444527 | rs372083359 | Y>H | A:195 | (111.08, 92.64, 92.24) |
| 7:65444499 | T>I | A:204 | (95.52, 88.34, 84.90) | |
| 7:65444497 | rs367989163 | Y>H | A:205 | (92.65, 91.14, 86.39) |
| 7:65444482 | rs200457516 | N>Y | A:210 | (96.84, 81.81, 79.43) |
| 7:65444473 | G>R | A:213 | (99.62, 76.80, 71.76) | |
| 7:65444469 | L>R | A:214 | (99.18, 74.68, 68.32) | |
| 7:65444466 | Q>L | A:215 | (95.47, 74.30, 72.51) | |
| 7:65444464 | rs121918174 | R>W | A:216 | (91.61, 73.92, 69.42) |
| 7:65444452 | L>V | A:220 | (96.44, 70.65, 54.99) | |
| 7:65444445 | T>M | A:222 | (91.01, 70.06, 49.19) | |
| 7:65444446 | T>A | A:222 | (91.01, 70.06, 49.19) | |
| 7:65444428 | I>V | A:228 | (79.95, 75.31, 49.08) | |
| 7:65444423 | D>E | A:229 | (82.33, 80.08, 51.22) | |
| 7:65444425 | D>N | A:229 | (82.33, 80.08, 51.22) | |
| 7:65444415 | rs138618819 | T>S | A:232 | (73.33, 79.75, 56.93) |
| 7:65444413 | rs202210104 | V>I | A:233 | (70.57, 77.20, 58.51) |
| 7:65444403 | S>T | A:236 | (61.00, 77.33, 62.54) | |
| 7:65444388 | rs200298579 | S>N | A:241 | (55.89, 70.51, 60.34) |
| 7:65441165 | V>G | A:250 | (79.76, 80.44, 45.99) | |
| 7:65441154 | rs150086524 | N>H | A:254 | (80.43, 83.22, 36.52) |
| 7:65441150 | rs140709901 | L>Q | A:255 | (78.61, 79.84, 34.90) |
| 7:65441146 | F>L | A:256 | (76.52, 78.78, 40.04) | |
| 7:65441148 | rs200941434 | F>L | A:256 | (76.52, 78.78, 40.04) |
| 7:65441135 | V>A | A:260 | (69.28, 71.97, 48.31) | |
| 7:65441132 | rs373590814 COSM1209224 |
R>H | A:261 | (69.09, 67.23, 48.01) |
| 7:65441133 | R>C | A:261 | (69.09, 67.23, 48.01) | |
| 7:65441130 | L>F | A:262 | (66.61, 67.57, 54.05) | |
| 7:65441118 | E>K | A:266 | (68.40, 57.68, 57.40) | |
| 7:65441072 | K>R | A:281 | (57.38, 72.38, 54.81) | |
| 7:65441064 | G>R | A:284 | (56.20, 65.07, 59.71) | |
| 7:65441043 | Y>N | A:291 | (69.40, 63.68, 78.26) | |
| 7:65441040 | L>V | A:292 | (64.91, 67.33, 79.40) | |
| 7:65441027 | rs528899475 | R>H | A:296 | (63.03, 61.72, 68.92) |
| 7:65441028 | R>C | A:296 | (63.03, 61.72, 68.92) | |
| 7:65441010 | S>P | A:302 | (71.30, 66.03, 56.67) | |
| 7:65440053 | rs375828604 | Q>H | A:306 | (75.00, 69.12, 44.58) |
| 7:65440039 | rs371554909 | T>M | A:311 | (85.24, 76.69, 35.76) |
| 7:65440030 | rs376068646 | G>E | A:314 | (84.68, 73.01, 33.62) |
| 7:65440027 | P>L | A:315 | (81.63, 71.37, 34.64) | |
| 7:65440025 | V>L | A:316 | (83.38, 71.63, 38.82) | |
| 7:65440021 | COSM461565 | S>F | A:317 | (81.08, 69.58, 41.55) |
| 7:65440016 | F>L | A:319 | (78.92, 67.38, 46.88) | |
| 7:65439983 | rs561880652 | A>S | A:330 | (62.15, 81.66, 73.05) |
| 7:65439947 | P>A | A:342 | (58.61, 74.69, 79.04) | |
| 7:65439940 | Y>C | A:344 | (65.44, 74.49, 85.11) | |
| 7:65439918 | H>Q | A:351 | (87.02, 75.03, 81.54) | |
| 7:65439920 | rs191153460 | H>Y | A:351 | (87.02, 75.03, 81.54) |
| 7:65439910 | rs121918175 | A>V | A:354 | (93.96, 68.12, 81.52) |
| 7:65439666 | COSM4149307 CM092098 |
P>L | A:364 | (89.36, 60.21, 74.72) |
| 7:65439661 | rs535768789 | L>V | A:366 | (85.03, 64.43, 74.07) |
| 7:65439658 | V>M | A:367 | (83.74, 60.34, 75.02) | |
| 7:65439647 | rs374490058 | F>L | A:370 | (79.77, 64.58, 76.19) |
| 7:65439636 | R>H | A:374 | (75.34, 59.39, 80.71) | |
| 7:65439619 | rs377615121 COSM485499 |
A>T | A:380 | (73.37, 71.83, 79.91) |
| 7:65439613 | rs121918173 | R>C | A:382 | (78.90, 78.83, 81.04) |
| 7:65439600 | Y>C | A:386 | (87.13, 79.08, 76.83) | |
| 7:65439594 | COSM453295 | Y>C | A:388 | (84.50, 75.06, 74.65) |
| 7:65439572 | rs149761698 | M>I | A:395 | (76.52, 69.47, 72.06) |
| 7:65439564 | R>H | A:398 | (72.09, 59.84, 70.13) | |
| 7:65439565 | R>C | A:398 | (72.09, 59.84, 70.13) | |
| 7:65439561 | rs556424939 | Y>C | A:399 | (75.40, 63.00, 72.88) |
| 7:65439562 | rs376589676 | Y>H | A:399 | (75.40, 63.00, 72.88) |
| 7:65439544 | rs200149500 | D>N | A:405 | (78.69, 80.06, 72.93) |
| 7:65439535 | P>S | A:408 | (86.89, 85.58, 75.46) | |
| 7:65439532 | G>S | A:409 | (84.96, 88.09, 78.52) | |
| 7:65439529 | V>M | A:410 | (87.27, 87.27, 81.08) | |
| 7:65439519 | rs139701264 | A>V | A:413 | (87.64, 94.86, 85.60) |
| 7:65439513 | P>L | A:415 | (88.71, 100.81, 84.02) | |
| 7:65439417 | N>S | A:419 | (89.20, 100.86, 75.16) | |
| 7:65439412 | V>I | A:421 | (90.11, 99.59, 70.44) | |
| 7:65439402 | H>R | A:424 | (85.84, 98.81, 67.74) | |
| 7:65439388 | rs376131143 | V>M | A:429 | (85.40, 88.36, 68.70) |
| 7:65439385 | M>V | A:430 | (80.74, 88.18, 68.99) | |
| 7:65439382 | rs143040697 | E>K | A:431 | (81.60, 89.15, 63.57) |
| 7:65439376 | rs369767887 | V>M | A:433 | (81.89, 83.19, 68.02) |
| 7:65439369 | R>H | A:435 | (82.13, 82.84, 60.97) | |
| 7:65439360 | K>R | A:438 | (75.13, 81.06, 62.92) | |
| 7:65439348 | A>V | A:442 | (72.63, 73.47, 70.67) | |
| 7:65439349 | A>T | A:442 | (72.63, 73.47, 70.67) | |
| 7:65439338 | M>I | A:445 | (71.95, 81.78, 75.23) | |
| 7:65439312 | S>C | A:454 | (78.63, 96.05, 84.93) | |
| 7:65439304 | E>K | A:457 | (78.98, 104.41, 84.47) | |
| 7:65435343 | A>T | A:468 | (73.29, 94.91, 69.77) | |
| 7:65435340 | H>Y | A:469 | (77.15, 93.47, 66.71) | |
| 7:65435330 | S>F | A:472 | (73.11, 91.80, 64.94) | |
| 7:65435315 | R>Q | A:477 | (70.39, 81.97, 68.93) | |
| 7:65435316 | R>W | A:477 | (70.39, 81.97, 68.93) | |
| 7:65435291 | S>F | A:485 | (76.63, 92.78, 89.61) | |
| 7:65432890 | P>L | A:494 | (69.18, 96.81, 81.34) | |
| 7:65432891 | rs143495981 | P>A | A:494 | (69.18, 96.81, 81.34) |
| 7:65432860 | Y>C | A:504 | (80.47, 81.33, 94.75) | |
| 7:65432843 | COSM298684 | D>N | A:510 | (79.41, 84.83, 105.26) |
| 7:65432839 | rs199694121 | Y>C | A:511 | (84.66, 83.41, 105.00) |
| 7:65432818 | Q>P | A:518 | (67.72, 79.19, 102.31) | |
| 7:65432810 | L>V | A:521 | (69.50, 82.89, 97.21) | |
| 7:65432789 | W>R | A:528 | (68.98, 90.95, 89.74) | |
| 7:65432718 | Q>H | A:551 | (85.04, 67.77, 109.18) | |
| 7:65429445 | D>H | A:552 | (80.18, 66.14, 110.86) | |
| 7:65429412 | K>Q | A:563 | (77.31, 66.99, 100.39) | |
| 7:65429405 | rs149448152 | L>R | A:565 | (76.79, 75.08, 99.41) |
| 7:65429400 | E>K | A:567 | (71.88, 70.03, 100.34) | |
| 7:65429374 | Q>H | A:575 | (60.58, 78.47, 96.58) | |
| 7:65429372 | K>R | A:576 | (62.30, 80.86, 93.19) | |
| 7:65429370 | R>C | A:577 | (62.38, 74.71, 89.93) | |
| 7:65429361 | Y>H | A:580 | (61.41, 84.49, 89.02) | |
| 7:65429357 | V>A | A:581 | (64.45, 80.73, 88.13) | |
| 7:65429358 | rs150304382 | V>M | A:581 | (64.45, 80.73, 88.13) |
| 7:65429352 | G>R | A:583 | (68.34, 77.92, 85.84) | |
| 7:65429343 | I>F | A:586 | (77.32, 73.50, 89.22) | |
| 7:65426047 | COSM1091312 | P>L | A:598 | (96.91, 81.81, 98.15) |
| 7:65426044 | COSM747297 | T>M | A:599 | (93.02, 81.25, 97.08) |
| 7:65426018 | I>L | A:608 | (81.28, 67.76, 90.92) | |
| 7:65426009 | rs121918176 | R>W | A:611 | (92.76, 67.96, 86.00) |
| 7:65425990 | S>I | A:617 | (80.23, 63.00, 97.40) | |
| 7:65425987 | A>G | A:618 | (78.40, 66.00, 95.41) | |
| 7:65425984 | rs121918172 | A>V | A:619 | (77.92, 64.22, 92.38) |
| 7:65425966 | rs372550726 COSM1209223 |
R>K | A:625 | (68.38, 68.77, 91.79) |
| 7:65425964 | Y>H | A:626 | (70.74, 68.05, 87.78) | |
| 7:65425953 | I>M | A:629 | (64.29, 68.07, 87.99) | |
| 7:65425948 | COSM1635371 | N>S | A:631 | (61.84, 62.50, 86.01) |
| 7:65425949 | N>H | A:631 | (61.84, 62.50, 86.01) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:65445300 | rs786205673 | R>W | A:103 | (106.17, 69.16, 60.45) |
| 7:65444897 | rs786205671 | W>S | A:133 | (105.97, 82.65, 58.76) |
| 7:65444853 | rs121918177 | P>S | A:148 | (89.33, 79.31, 63.57) |
| 7:65444769 | rs121918181 | L>F | A:176 | (96.98, 88.45, 78.15) |
| 7:65444765 | rs587779400 | T>I | A:177 | (96.85, 93.03, 76.31) |
| 7:65444464 | rs121918174 | R>W | A:216 | (91.61, 73.92, 69.42) |
| 7:65439910 | rs121918175 | A>V | A:354 | (93.96, 68.12, 81.52) |
| 7:65439673 | rs398123234 | D>N | A:362 | (91.46, 64.23, 73.83) |
| 7:65439613 | rs121918173 | R>C | A:382 | (78.90, 78.83, 81.04) |
| 7:65432887 | rs121918178 | Y>C | A:495 | (70.91, 97.04, 78.00) |
| 7:65432837 | rs794726973 | G>R | A:512 | (80.63, 78.80, 106.93) |
| 7:65432785 | rs786205674 | Y>C | A:529 | (61.18, 89.15, 87.90) |
| 7:65429369 | rs121918183 | R>L | A:577 | (62.38, 74.71, 89.93) |
| 7:65426009 | rs121918176 | R>W | A:611 | (92.76, 67.96, 86.00) |
| 7:65425984 | rs121918172 | A>V | A:619 | (77.92, 64.22, 92.38) |
| 7:65425959 | rs121918184 | W>C | A:627 | (68.48, 61.59, 85.96) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:65445384 | COSM1209226 | V>M | A:75 | (112.01, 70.84, 71.18) |
| 7:65445369 | COSM1698705 | P>S | A:80 | (96.37, 68.75, 69.96) |
| 7:65445321 | COSM1488635 | V>I | A:96 | (105.77, 85.73, 78.31) |
| 7:65444813 | COSM1623045 | P>R | A:161 | (109.19, 73.57, 42.83) |
| 7:65444483 | COSM3833088 | F>L | A:209 | (97.58, 78.71, 83.24) |
| 7:65444457 | COSM1451820 | V>A | A:218 | (96.70, 71.46, 62.31) |
| 7:65432873 | COSM3367003 | C>R | A:500 | (73.10, 85.33, 84.34) |
| 7:65432870 | COSM3367002 | L>V | A:501 | (73.26, 85.76, 88.68) |