General Structure Information
| PDB ID | 1aos |
| HGNC Gene Label(s) | ASL |
| Structure Name | human argininosuccinate lyase |
| Resolution | 4.2Å |
| Reference | AUTH M.A.TURNER,A.SIMPSON,R.R.MCINNES,P.L.HOWELLTITL HUMAN ARGININOSUCCINATE LYASE: A STRUCTURAL BASIS FORTITL 2 INTRAGENIC COMPLEMENTATION.REF PROC.NATL.ACAD.SCI.USA V. 94 9063 1997REFN ISSN 0027-8424PMID 9256435DOI 10.1073/PNAS.94.17.9063 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 434 |
| Number Of SNVs | 122 |
| Number Of Permutations | 74572 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.032 |
| p-value | 0.325 |
ClinVar
| Number Of Residues | 434 |
| Number Of SNVs | 14 |
| Number Of Permutations | 12684 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | 0.363 |
| p-value | 0.527 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 122 |
| Number Of ClinVar SNVs | 13 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | -0.112 |
| p-value | 0.306 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:65546835 | I>V | A:20 | (104.17, 34.87, 32.76) | |
| 7:65546839 | M>T | A:21 | (104.73, 37.37, 28.10) | |
| 7:65546853 | COSM3882062 | A>T | A:26 | (99.97, 31.06, 24.48) |
| 7:65546854 | A>V | A:26 | (99.97, 31.06, 24.48) | |
| 7:65546868 | D>N | A:31 | (94.04, 27.45, 19.63) | |
| 7:65546872 | rs149108910 | R>Q | A:32 | (93.70, 22.26, 21.38) |
| 7:65546877 | L>F | A:34 | (91.30, 25.90, 14.82) | |
| 7:65546886 | rs146658202 | V>L | A:37 | (90.17, 24.79, 10.03) |
| 7:65546910 | Y>N | A:45 | (97.38, 30.48, -0.09) | |
| 7:65546958 | D>Y | A:61 | (100.55, 17.70, -5.46) | |
| 7:65547389 | rs141046612 | L>P | A:81 | (102.25, 18.69, 20.68) |
| 7:65547401 | D>G | A:85 | (104.95, 25.38, 19.41) | |
| 7:65547407 | D>G | A:87 | (100.15, 29.09, 17.23) | |
| 7:65547427 | rs374304304 | R>C | A:94 | (106.01, 21.45, 14.50) |
| 7:65547430 | rs28940585 | R>C | A:95 | (104.77, 19.04, 11.05) |
| 7:65547431 | rs150244667 | R>H | A:95 | (104.77, 19.04, 11.05) |
| 7:65547877 | G>D | A:101 | (110.40, 20.28, 4.15) | |
| 7:65547883 | COSM3882063 | T>M | A:103 | (107.70, 22.42, -0.29) |
| 7:65547897 | H>N | A:108 | (104.50, 29.31, 5.05) | |
| 7:65547901 | rs146123574 | T>M | A:109 | (104.48, 32.84, 0.81) |
| 7:65547907 | rs561367199 | R>Q | A:111 | (100.44, 34.64, 4.50) |
| 7:65547912 | R>W | A:113 | (100.23, 33.52, 11.26) | |
| 7:65547913 | R>Q | A:113 | (100.23, 33.52, 11.26) | |
| 7:65547918 | D>Y | A:115 | (95.61, 36.48, 6.69) | |
| 7:65547920 | COSM1187312 | D>E | A:115 | (95.61, 36.48, 6.69) |
| 7:65548085 | W>R | A:124 | (84.88, 26.30, 14.88) | |
| 7:65548092 | R>Q | A:126 | (81.17, 28.20, 7.45) | |
| 7:65548101 | C>S | A:129 | (76.38, 28.65, 13.13) | |
| 7:65548103 | S>A | A:130 | (74.97, 25.31, 10.88) | |
| 7:65548107 | rs143793815 | T>M | A:131 | (75.28, 23.55, 14.41) |
| 7:65548109 | L>F | A:132 | (73.86, 26.97, 16.82) | |
| 7:65548116 | rs201352504 | G>D | A:134 | (69.38, 23.63, 14.36) |
| 7:65548126 | W>C | A:137 | (66.13, 25.84, 12.36) | |
| 7:65548134 | I>T | A:140 | (61.25, 26.55, 17.16) | |
| 7:65548139 | rs375601630 | T>A | A:142 | (59.70, 20.85, 20.09) |
| 7:65548143 | M>T | A:143 | (58.05, 24.83, 21.45) | |
| 7:65548151 | rs199938613 | R>W | A:146 | (54.04, 20.38, 23.98) |
| 7:65548157 | COSM3778532 | E>K | A:148 | (49.36, 20.82, 17.21) |
| 7:65548161 | A>V | A:149 | (48.88, 18.98, 21.30) | |
| 7:65551576 | R>C | A:151 | (45.08, 23.23, 20.18) | |
| 7:65551577 | R>H | A:151 | (45.08, 23.23, 20.18) | |
| 7:65551579 | D>N | A:152 | (42.26, 22.55, 24.10) | |
| 7:65551589 | F>C | A:155 | (47.52, 28.93, 31.87) | |
| 7:65551601 | T>I | A:159 | (50.19, 41.17, 34.33) | |
| 7:65551627 | R>S | A:168 | (43.84, 28.20, 24.73) | |
| 7:65551628 | R>H | A:168 | (43.84, 28.20, 24.73) | |
| 7:65551632 | W>C | A:169 | (50.71, 25.29, 28.03) | |
| 7:65551633 | S>G | A:170 | (49.50, 26.81, 23.43) | |
| 7:65551735 | A>T | A:177 | (58.42, 30.55, 19.52) | |
| 7:65551738 | rs28941473 | V>M | A:178 | (57.52, 33.85, 17.90) |
| 7:65551751 | R>Q | A:182 | (62.36, 37.62, 16.40) | |
| 7:65551763 | R>Q | A:186 | (68.18, 37.81, 15.42) | |
| 7:65551777 | rs143508372 | R>W | A:191 | (74.53, 30.75, 8.84) |
| 7:65551778 | rs183157856 | R>Q | A:191 | (74.53, 30.75, 8.84) |
| 7:65551784 | rs373697663 CM910595 |
R>Q | A:193 | (76.99, 39.78, 8.20) |
| 7:65552325 | A>T | A:203 | (98.99, 42.39, 6.77) | |
| 7:65552326 | A>V | A:203 | (98.99, 42.39, 6.77) | |
| 7:65552329 | I>T | A:204 | (98.33, 46.04, 6.32) | |
| 7:65552331 | A>T | A:205 | (98.11, 45.16, 2.42) | |
| 7:65552335 | G>V | A:206 | (97.69, 42.53, 0.47) | |
| 7:65552338 | COSM3381970 | N>S | A:207 | (98.62, 38.94, -1.60) |
| 7:65552358 | E>Q | A:214 | (87.33, 34.48, -6.77) | |
| 7:65552370 | A>S | A:218 | (85.68, 28.68, -4.20) | |
| 7:65552718 | L>F | A:220 | (87.39, 27.95, 1.38) | |
| 7:65552725 | F>S | A:222 | (83.67, 31.35, 2.40) | |
| 7:65552734 | I>T | A:225 | (86.08, 38.40, -1.86) | |
| 7:65552748 | rs143957662 | M>V | A:230 | (93.14, 47.72, 6.58) |
| 7:65552757 | rs146470510 | T>S | A:233 | (92.94, 42.23, 9.44) |
| 7:65552766 | R>W | A:236 | (87.81, 40.41, 14.56) | |
| 7:65552767 | R>Q | A:236 | (87.81, 40.41, 14.56) | |
| 7:65552773 | F>Y | A:238 | (83.34, 37.67, 13.08) | |
| 7:65553811 | rs3116476 | A>P | A:246 | (73.55, 35.12, 22.50) |
| 7:65553823 | rs374908945 | M>V | A:250 | (70.11, 33.18, 26.82) |
| 7:65553824 | M>K | A:250 | (70.11, 33.18, 26.82) | |
| 7:65553832 | L>V | A:253 | (66.04, 30.74, 27.01) | |
| 7:65553839 | R>K | A:255 | (60.82, 35.98, 29.87) | |
| 7:65553842 | rs149057077 | M>T | A:256 | (61.67, 29.63, 29.13) |
| 7:65553886 | V>M | A:271 | (54.51, 22.75, 35.59) | |
| 7:65554080 | T>M | A:279 | (67.28, 18.25, 41.72) | |
| 7:65554097 | P>S | A:285 | (59.36, 14.07, 48.01) | |
| 7:65554101 | rs28941472 | Q>R | A:286 | (55.72, 16.66, 47.59) |
| 7:65554134 | R>Q | A:297 | (67.57, 31.96, 35.89) | |
| 7:65554149 | R>H | A:302 | (79.50, 33.01, 31.86) | |
| 7:65554151 | rs375562374 | V>M | A:303 | (76.46, 35.03, 27.38) |
| 7:65554161 | COSM3674966 | R>Q | A:306 | (82.76, 36.59, 27.44) |
| 7:65554269 | G>R | A:309 | (83.91, 42.85, 26.44) | |
| 7:65554300 | COSM1451835 | S>N | A:319 | (95.61, 50.26, 13.52) |
| 7:65554308 | N>D | A:322 | (96.18, 45.97, 17.02) | |
| 7:65554309 | N>S | A:322 | (96.18, 45.97, 17.02) | |
| 7:65554315 | D>G | A:324 | (94.49, 44.16, 21.63) | |
| 7:65554322 | Q>H | A:326 | (94.77, 37.13, 20.15) | |
| 7:65554612 | A>V | A:331 | (84.84, 34.15, 23.32) | |
| 7:65554633 | rs370475550 | T>I | A:338 | (77.12, 27.87, 26.48) |
| 7:65554640 | S>R | A:340 | (75.10, 24.30, 21.86) | |
| 7:65554644 | rs375200087 | V>M | A:342 | (71.51, 25.66, 26.79) |
| 7:65554647 | L>I | A:343 | (69.48, 25.48, 22.81) | |
| 7:65554669 | I>T | A:350 | (59.51, 22.08, 26.52) | |
| 7:65554675 | T>M | A:352 | (59.91, 16.24, 29.27) | |
| 7:65557023 | S>C | A:365 | (38.69, 33.43, 38.42) | |
| 7:65557029 | D>N | A:367 | (38.12, 37.77, 39.15) | |
| 7:65557030 | rs377357084 | D>G | A:367 | (38.12, 37.77, 39.15) |
| 7:65557057 | Y>C | A:376 | (26.41, 40.54, 26.80) | |
| 7:65557060 | rs377761362 | L>P | A:377 | (26.41, 45.31, 27.31) |
| 7:65557063 | V>A | A:378 | (29.60, 46.19, 23.58) | |
| 7:65557066 | rs200853731 COSM747291 |
R>H | A:379 | (29.59, 41.88, 21.87) |
| 7:65557544 | M>L | A:382 | (26.35, 49.63, 26.04) | |
| 7:65557553 | rs28940286 | R>C | A:385 | (32.19, 55.76, 29.08) |
| 7:65557554 | R>H | A:385 | (32.19, 55.76, 29.08) | |
| 7:65557569 | rs201047656 COSM1330552 |
A>V | A:390 | (27.71, 47.60, 34.79) |
| 7:65557574 | G>R | A:392 | (30.76, 47.27, 38.55) | |
| 7:65557593 | A>D | A:398 | (28.21, 40.19, 44.58) | |
| 7:65557595 | COSM3640101 | E>K | A:399 | (31.15, 42.81, 47.44) |
| 7:65557607 | V>F | A:403 | (26.79, 35.47, 46.17) | |
| 7:65557608 | V>G | A:403 | (26.79, 35.47, 46.17) | |
| 7:65557610 | COSM3882066 | A>T | A:404 | (29.49, 35.58, 43.12) |
| 7:65557632 | Q>P | A:411 | (15.61, 38.68, 37.18) | |
| 7:65557766 | rs148669165 | S>L | A:421 | (19.99, 38.17, 28.48) |
| 7:65557768 | G>C | A:422 | (20.45, 34.48, 28.64) | |
| 7:65557771 | D>N | A:423 | (23.24, 35.64, 26.43) | |
| 7:65557774 | rs368264870 | V>M | A:424 | (24.53, 35.82, 30.75) |
| 7:65557783 | V>M | A:427 | (29.95, 35.01, 30.13) | |
| 7:65557786 | W>R | A:428 | (29.29, 33.59, 33.98) | |
| 7:65557795 | rs201733091 | G>R | A:431 | (37.39, 26.88, 25.45) |
| 7:65557804 | V>L | A:434 | (39.34, 32.08, 25.39) | |
| 7:65557810 | Q>E | A:436 | (36.20, 37.05, 23.61) | |
| 7:65557823 | L>P | A:440 | (44.59, 37.46, 13.25) | |
| 7:65557831 | T>S | A:443 | (44.11, 33.02, 22.75) | |
| 7:65557835 | A>V | A:444 | (41.70, 31.54, 19.85) | |
| 7:65557837 | R>C | A:445 | (41.14, 25.46, 18.71) | |
| 7:65557838 | rs372272449 | R>H | A:445 | (41.14, 25.46, 18.71) |
| 7:65557846 | rs139410488 | V>I | A:448 | (46.57, 28.97, 18.23) |
| 7:65557861 | rs144591360 | R>C | A:453 | (48.81, 28.05, 9.99) |
| 7:65557862 | R>H | A:453 | (48.81, 28.05, 9.99) | |
| 7:65557865 | Q>R | A:454 | (52.35, 31.90, 10.17) | |
| 7:65557867 | V>L | A:455 | (56.16, 29.55, 13.18) | |
| 7:65557870 | R>W | A:456 | (54.94, 24.50, 11.73) | |
| 7:65557871 | R>Q | A:456 | (54.94, 24.50, 11.73) | |
| 7:65557874 | A>V | A:457 | (56.44, 28.67, 7.72) | |
| 7:65557885 | A>P | A:461 | (61.97, 29.91, 4.82) | |
| 7:65557886 | A>V | A:461 | (61.97, 29.91, 4.82) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:65547427 | rs374304304 | R>C | A:94 | (106.01, 21.45, 14.50) |
| 7:65547430 | rs28940585 | R>S | A:95 | (104.77, 19.04, 11.05) |
| 7:65548151 | rs199938613 | R>W | A:146 | (54.04, 20.38, 23.98) |
| 7:65548152 | rs796051931 | R>Q | A:146 | (54.04, 20.38, 23.98) |
| 7:65551632 | rs759952363 | W>C | A:169 | (50.71, 25.29, 28.03) |
| 7:65551738 | rs28941473 | V>M | A:178 | (57.52, 33.85, 17.90) |
| 7:65551751 | rs751590073 | R>Q | A:182 | (62.36, 37.62, 16.40) |
| 7:65554101 | rs28941472 | Q>R | A:286 | (55.72, 16.66, 47.59) |
| 7:65554269 | rs769506424 | G>R | A:309 | (83.91, 42.85, 26.44) |
| 7:65557065 | rs28940287 | R>C | A:379 | (29.59, 41.88, 21.87) |
| 7:65557553 | rs28940286 | R>C | A:385 | (32.19, 55.76, 29.08) |
| 7:65557593 | rs770167670 | A>D | A:398 | (28.21, 40.19, 44.58) |
| 7:65557647 | rs796051927 | I>T | A:416 | (22.58, 46.13, 36.18) |
| 7:65557801 | rs796051928 | S>R | A:433 | (36.41, 34.19, 27.36) |
| 7:65557873 | rs796051930 | A>P | A:457 | (56.44, 28.67, 7.72) |