General Structure Information
| PDB ID | 1fsu |
| HGNC Gene Label(s) | ARSB |
| Structure Name | 4-sulfatase (human) |
| Resolution | 2.5Å |
| Reference | AUTH C.S.BOND,P.R.CLEMENTS,S.J.ASHBY,C.A.COLLYER,S.J.HARROP,AUTH 2 J.J.HOPWOOD,J.M.GUSSTITL STRUCTURE OF A HUMAN LYSOSOMAL SULFATASE.REF STRUCTURE V. 5 277 1997REFN ISSN 0969-2126PMID 9032078DOI 10.1016/S0969-2126(97)00185-8 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 474 |
| Number Of SNVs | 129 |
| Number Of Permutations | 17531 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.048 |
| p-value | 0.177 |
ClinVar
| Number Of Residues | 474 |
| Number Of SNVs | 10 |
| Number Of Permutations | 1349 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.378 |
| p-value | 0.476 |
COSMIC
| Number Of Residues | 474 |
| Number Of SNVs | 6 |
| Number Of Permutations | 502 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.333 |
| p-value | 0.009 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 129 |
| Number Of ClinVar SNVs | 9 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | -0.02 |
| p-value | 0.944 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 129 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.27 |
| p-value | 0.011 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:78280941 | P>R | A:44 | (2.63, 14.66, 17.24) | |
| 5:78280942 | P>T | A:44 | (2.63, 14.66, 17.24) | |
| 5:78280909 | L>V | A:55 | (23.05, 10.30, 38.39) | |
| 5:78280903 | W>G | A:57 | (21.19, 2.20, 40.32) | |
| 5:78280891 | rs375647920 | G>S | A:61 | (15.60, 7.77, 46.44) |
| 5:78280881 | G>D | A:64 | (18.15, 4.37, 48.68) | |
| 5:78280870 | R>C | A:68 | (16.32, 14.72, 51.28) | |
| 5:78280859 | H>Q | A:71 | (10.53, 16.98, 42.54) | |
| 5:78280839 | G>A | A:78 | (3.98, 7.88, 37.81) | |
| 5:78280831 | L>V | A:81 | (11.49, 2.64, 37.04) | |
| 5:78280827 | L>P | A:82 | (13.79, 2.35, 33.04) | |
| 5:78280806 | P>Q | A:89 | (30.88, 4.22, 30.46) | |
| 5:78280797 | T>M | A:92 | (31.20, 11.25, 24.16) | |
| 5:78280785 | S>N | A:96 | (26.94, 9.22, 20.55) | |
| 5:78280777 | L>F | A:99 | (22.02, 12.10, 19.23) | |
| 5:78265014 | I>T | A:105 | (31.71, -0.36, 17.04) | |
| 5:78265011 | rs150087888 | R>H | A:106 | (28.92, 0.28, 14.33) |
| 5:78265012 | R>C | A:106 | (28.92, 0.28, 14.33) | |
| 5:78265009 | T>A | A:107 | (31.22, 6.04, 15.38) | |
| 5:78265005 | G>V | A:108 | (35.08, 5.68, 16.41) | |
| 5:78264981 | P>H | A:116 | (39.32, 19.74, 24.45) | |
| 5:78264970 | S>G | A:120 | (37.08, 14.77, 17.08) | |
| 5:78264954 | D>G | A:125 | (28.39, 10.12, 7.91) | |
| 5:78264946 | L>F | A:128 | (21.87, 13.48, 14.54) | |
| 5:78264940 | P>S | A:130 | (17.56, 16.19, 15.90) | |
| 5:78264935 | rs139174369 | Q>H | A:131 | (18.76, 15.81, 11.51) |
| 5:78264936 | rs544246762 | Q>L | A:131 | (18.76, 15.81, 11.51) |
| 5:78264927 | rs371631385 | K>R | A:134 | (13.73, 19.50, 11.67) |
| 5:78264921 | A>V | A:136 | (8.51, 15.22, 11.66) | |
| 5:78264922 | rs146704780 | A>T | A:136 | (8.51, 15.22, 11.66) |
| 5:78264918 | rs118203938 CM910053 |
G>D | A:137 | (7.73, 18.67, 12.41) |
| 5:78264912 | T>I | A:139 | (10.51, 22.68, 17.04) | |
| 5:78264906 | H>R | A:141 | (14.43, 23.70, 20.81) | |
| 5:78264904 | rs369374657 | M>V | A:142 | (20.39, 21.69, 23.00) |
| 5:78264898 | G>R | A:144 | (23.81, 22.39, 27.09) | |
| 5:78264895 | K>E | A:145 | (27.28, 18.47, 28.08) | |
| 5:78264873 | R>Q | A:152 | (34.69, 20.78, 10.97) | |
| 5:78264856 | T>A | A:158 | (23.45, 24.81, 15.22) | |
| 5:78264853 | rs202134230 | R>C | A:159 | (26.18, 24.27, 11.36) |
| 5:78264840 | D>V | A:163 | (16.21, 24.87, 15.31) | |
| 5:78260406 | Y>H | A:175 | (28.61, 23.96, 37.77) | |
| 5:78260390 | rs139788949 | R>H | A:180 | (38.07, 23.08, 30.52) |
| 5:78260391 | R>C | A:180 | (38.07, 23.08, 30.52) | |
| 5:78260360 | T>I | A:190 | (47.15, 25.67, 31.32) | |
| 5:78260361 | T>S | A:190 | (47.15, 25.67, 31.32) | |
| 5:78260357 | COSM1070372 | R>Q | A:191 | (46.05, 28.56, 27.42) |
| 5:78260339 | R>Q | A:197 | (28.95, 29.38, 22.31) | |
| 5:78260340 | R>G | A:197 | (28.95, 29.38, 22.31) | |
| 5:78260331 | E>K | A:200 | (27.01, 29.57, 16.11) | |
| 5:78260312 | Y>C | A:206 | (25.04, 34.35, 31.17) | |
| 5:78260300 | rs118203943 | Y>C | A:210 | (24.85, 26.59, 39.47) |
| 5:78260301 | Y>H | A:210 | (24.85, 26.59, 39.47) | |
| 5:78260282 | rs200364654 | T>I | A:216 | (15.98, 25.63, 34.06) |
| 5:78260279 | K>R | A:217 | (15.34, 31.18, 32.97) | |
| 5:78260273 | COSM1070370 | A>V | A:219 | (13.62, 25.59, 29.10) |
| 5:78260271 | rs202130413 | I>V | A:220 | (10.87, 27.22, 31.61) |
| 5:78260262 | rs367650121 CM074026 |
I>V | A:223 | (8.08, 25.25, 27.79) |
| 5:78260254 | rs566000880 | N>K | A:225 | (7.43, 31.37, 24.71) |
| 5:78260240 | rs148803852 | K>R | A:230 | (3.77, 23.72, 15.69) |
| 5:78251312 | rs144326511 | Y>C | A:235 | (19.27, 17.10, 24.67) |
| 5:78251303 | L>H | A:238 | (21.76, 19.42, 32.97) | |
| 5:78251288 | COSM1544522 | E>A | A:243 | (33.82, 17.73, 37.86) |
| 5:78251264 | rs560823654 | Y>S | A:251 | (20.72, 23.77, 47.65) |
| 5:78251261 | L>W | A:252 | (25.37, 22.14, 51.80) | |
| 5:78251258 | K>R | A:253 | (21.53, 23.18, 56.60) | |
| 5:78251226 | rs558569339 | H>N | A:264 | (28.03, 17.67, 52.31) |
| 5:78251207 | V>A | A:270 | (21.38, 15.85, 43.37) | |
| 5:78251208 | V>L | A:270 | (21.38, 15.85, 43.37) | |
| 5:78251204 | S>C | A:271 | (18.97, 18.37, 45.51) | |
| 5:78251198 | M>T | A:273 | (19.03, 17.97, 39.58) | |
| 5:78251190 | A>T | A:276 | (15.08, 21.79, 38.16) | |
| 5:78251183 | G>E | A:278 | (10.42, 20.43, 38.63) | |
| 5:78251175 | T>A | A:281 | (7.68, 19.15, 35.10) | |
| 5:78251157 | rs545693472 | S>C | A:287 | (2.04, 25.47, 29.38) |
| 5:78251151 | COSM1183680 | L>F | A:289 | (2.68, 21.13, 26.63) |
| 5:78251148 | W>R | A:290 | (3.06, 16.29, 31.52) | |
| 5:78251138 | COSM3849679 COSM3849680 |
T>M | A:293 | (4.53, 15.32, 26.99) |
| 5:78181644 | G>A | A:302 | (27.91, 6.52, 36.23) | |
| 5:78181635 | rs199931771 | T>I | A:305 | (33.39, 7.44, 43.66) |
| 5:78181632 | rs143111531 | L>S | A:306 | (36.85, 9.84, 42.68) |
| 5:78181612 | P>T | A:313 | (24.53, -2.33, 45.37) | |
| 5:78181609 | rs138679612 | L>F | A:314 | (25.70, -1.80, 41.55) |
| 5:78181605 | R>Q | A:315 | (31.77, -5.06, 40.59) | |
| 5:78181600 | R>G | A:317 | (34.34, 3.86, 39.60) | |
| 5:78181573 | rs529444755 COSM450080 |
V>I | A:326 | (26.65, 0.58, 32.35) |
| 5:78181569 | COSM384076 | R>Q | A:327 | (21.76, -1.06, 36.29) |
| 5:78181567 | G>W | A:328 | (20.90, 3.38, 34.82) | |
| 5:78181558 | F>L | A:331 | (12.32, 8.69, 34.91) | |
| 5:78181525 | V>M | A:342 | (5.42, 0.31, 36.79) | |
| 5:78181515 | rs148067062 | R>Q | A:345 | (13.07, -6.62, 35.66) |
| 5:78181516 | R>W | A:345 | (13.07, -6.62, 35.66) | |
| 5:78181501 | rs79970603 | I>V | A:350 | (21.14, 5.41, 25.27) |
| 5:78181497 | S>F | A:351 | (20.45, 3.11, 21.36) | |
| 5:78181477 | rs1065757 | V>M | A:358 | (11.35, 8.81, 15.25) |
| 5:78181468 | A>S | A:361 | (7.13, 11.50, 15.73) | |
| 5:78181453 | N>D | A:366 | (14.66, 7.35, 5.98) | |
| 5:78181426 | rs200040980 | D>N | A:375 | (10.50, 1.05, 19.03) |
| 5:78181423 | rs17220759 | V>M | A:376 | (11.32, 0.50, 23.33) |
| 5:78135241 | rs25414 | S>N | A:384 | (6.07, -5.60, 26.18) |
| 5:78135233 | rs145553034 | P>S | A:387 | (12.84, -5.55, 21.19) |
| 5:78135226 | rs183729171 | I>T | A:389 | (17.93, -10.30, 23.07) |
| 5:78135214 | rs118203944 | H>P | A:393 | (27.92, -3.06, 27.16) |
| 5:78135205 | D>G | A:396 | (38.85, -0.12, 23.98) | |
| 5:78135200 | N>Y | A:398 | (43.86, 1.01, 23.35) | |
| 5:78135197 | F>L | A:399 | (40.41, 0.72, 29.08) | |
| 5:78135194 | rs570630772 | V>L | A:400 | (43.20, 3.29, 29.98) |
| 5:78135187 | S>C | A:402 | (42.40, 7.48, 33.98) | |
| 5:78135184 | S>L | A:403 | (40.66, 6.73, 37.11) | |
| 5:78135181 | rs200665696 | P>L | A:404 | (42.14, 7.27, 40.55) |
| 5:78077740 | A>G | A:424 | (37.99, -15.73, 18.45) | |
| 5:78077732 | T>P | A:427 | (40.50, -12.22, 26.38) | |
| 5:78077729 | S>P | A:428 | (43.31, -8.91, 26.52) | |
| 5:78077726 | V>I | A:429 | (40.31, -6.64, 24.50) | |
| 5:78077707 | H>R | A:435 | (22.44, -12.83, 24.89) | |
| 5:78077705 | G>R | A:436 | (20.09, -11.76, 28.30) | |
| 5:78076480 | G>S | A:448 | (36.07, -3.53, 40.78) | |
| 5:78076472 | rs555785323 | W>C | A:450 | (31.82, -4.55, 45.01) |
| 5:78076461 | P>L | A:454 | (29.94, 7.29, 52.55) | |
| 5:78076449 | rs144222167 | N>S | A:458 | (34.15, 3.33, 58.21) |
| 5:78076435 | P>T | A:463 | (37.70, -5.86, 47.73) | |
| 5:78076431 | S>L | A:464 | (37.40, -8.81, 44.67) | |
| 5:78076425 | D>G | A:466 | (39.27, -10.97, 41.19) | |
| 5:78076417 | rs149571393 | T>A | A:469 | (45.85, -12.48, 36.00) |
| 5:78076413 | K>T | A:470 | (40.32, -12.42, 36.10) | |
| 5:78076411 | T>A | A:471 | (41.00, -11.46, 31.48) | |
| 5:78076386 | R>Q | A:479 | (18.92, -15.60, 38.88) | |
| 5:78076387 | COSM278990 | R>W | A:479 | (18.92, -15.60, 38.88) |
| 5:78076372 | rs201101343 CM040379 |
R>G | A:484 | (27.93, -10.42, 45.32) |
| 5:78076342 | rs140415504 | I>V | A:494 | (27.36, -19.21, 28.05) |
| 5:78076339 | rs138643812 | V>I | A:495 | (32.00, -18.04, 27.66) |
| 5:78076329 | L>P | A:498 | (28.96, -14.31, 24.75) | |
| 5:78076320 | rs190643827 | R>H | A:501 | (27.65, -12.26, 18.85) |
| 5:78076310 | F>L | A:504 | (29.27, -10.10, 14.72) | |
| 5:78076308 | rs369249293 | Y>C | A:505 | (29.02, -7.07, 17.66) |
| 5:78076305 | rs144800194 | H>R | A:506 | (36.51, -6.81, 16.17) |
| 5:78076300 | H>Y | A:508 | (30.86, -6.23, 11.38) | |
| 5:78076275 | rs200163298 | A>V | A:516 | (46.27, 14.23, 18.58) |
| 5:78076276 | rs201234153 | A>T | A:516 | (46.27, 14.23, 18.58) |
| 5:78076264 | R>C | A:520 | (45.98, 24.46, 14.66) | |
| 5:78076252 | rs372022710 | K>E | A:524 | (45.91, 33.04, 23.11) |
| 5:78076243 | rs368295181 | G>R | A:527 | (38.75, 33.48, 25.18) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:78280857 | rs397514441 | L>Q | A:72 | (13.38, 12.59, 40.36) |
| 5:78280788 | rs118203942 | R>Q | A:95 | (26.03, 12.85, 25.76) |
| 5:78264979 | rs118203939 | C>R | A:117 | (42.48, 19.97, 21.61) |
| 5:78264918 | rs118203938 | G>V | A:137 | (7.73, 18.67, 12.41) |
| 5:78260300 | rs118203943 | Y>C | A:210 | (24.85, 26.59, 39.47) |
| 5:78251309 | rs118203940 | L>P | A:236 | (17.73, 19.64, 29.36) |
| 5:78181605 | rs727503809 | R>Q | A:315 | (31.77, -5.06, 40.59) |
| 5:78181578 | rs398123125 | G>V | A:324 | (27.98, 0.99, 37.79) |
| 5:78135214 | rs118203944 | H>P | A:393 | (27.92, -3.06, 27.16) |
| 5:78076372 | rs201101343 | R>G | A:484 | (27.93, -10.42, 45.32) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:78251321 | COSM1642792 | L>P | A:232 | (8.66, 20.64, 21.70) |
| 5:78251138 | COSM3849679 | T>M | A:293 | (4.53, 15.32, 26.99) |
| 5:78181573 | COSM450080 | V>I | A:326 | (26.65, 0.58, 32.35) |
| 5:78181569 | COSM384076 | R>Q | A:327 | (21.76, -1.06, 36.29) |
| 5:78181507 | COSM1620569 | I>F | A:348 | (16.09, -0.57, 27.55) |
| 5:78181423 | COSM3761332 | V>M | A:376 | (11.32, 0.50, 23.33) |
| 5:78076339 | COSM1194220 | V>F | A:495 | (32.00, -18.04, 27.66) |