General Structure Information
| PDB ID | 3qj4 |
| HGNC Gene Label(s) | RNLS |
| Structure Name | crystal structure of human renalase (isoform 1) |
| Resolution | 2.5Å |
| Reference | AUTH M.MILANI,F.CIRIELLO,S.BARONI,V.PANDINI,G.CANEVARI,AUTH 2 M.BOLOGNESI,A.ALIVERTITITL FAD-BINDING SITE AND NADP REACTIVITY IN HUMAN RENALASE: ATITL 2 NEW ENZYME INVOLVED IN BLOOD PRESSURE REGULATIONREF J.MOL.BIOL. V. 411 463 2011REFN ISSN 0022-2836PMID 21699903DOI 10.1016/J.JMB.2011.06.010 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 335 |
| Number Of SNVs | 88 |
| Number Of Permutations | 40640 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.075 |
| p-value | 0.653 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:90342920 | G>R | A:10 | (12.63, -5.53, 26.17) | |
| 10:90342911 | G>R | A:13 | (10.37, -2.08, 28.73) | |
| 10:90342907 | S>N | A:14 | (13.31, -2.78, 30.43) | |
| 10:90342901 | C>S | A:16 | (9.99, 1.86, 30.89) | |
| 10:90342895 | rs376585268 | A>E | A:18 | (13.65, 1.44, 35.29) |
| 10:90342880 | Q>P | A:23 | (10.96, 10.59, 39.10) | |
| 10:90342853 | V>G | A:32 | (6.83, -7.49, 33.04) | |
| 10:90342848 | D>H | A:34 | (7.16, -11.76, 27.19) | |
| 10:90342837 | rs2296545 | E>D | A:37 | (10.44, -18.95, 26.91) |
| 10:90342050 | rs572861626 | T>A | A:45 | (21.39, -14.39, 23.84) |
| 10:90342047 | rs557592363 | A>S | A:46 | (21.59, -18.00, 22.44) |
| 10:90342044 | C>R | A:47 | (22.41, -21.06, 24.89) | |
| 10:90342028 | P>L | A:52 | (25.73, -22.49, 29.40) | |
| 10:90342029 | P>S | A:52 | (25.73, -22.49, 29.40) | |
| 10:90342025 | rs377332197 | Q>R | A:53 | (29.41, -20.09, 29.53) |
| 10:90342026 | COSM3791010 COSM3791009 |
Q>E | A:53 | (29.41, -20.09, 29.53) |
| 10:90342023 | C>G | A:54 | (28.26, -21.09, 24.21) | |
| 10:90342017 | A>P | A:56 | (24.65, -16.13, 20.55) | |
| 10:90342011 | L>V | A:58 | (20.17, -14.56, 17.32) | |
| 10:90341989 | C>Y | A:65 | (27.43, 6.05, 19.76) | |
| 10:90341986 | T>S | A:66 | (25.89, 8.91, 17.43) | |
| 10:90341983 | rs369122040 | P>L | A:67 | (28.24, 12.12, 17.94) |
| 10:90341974 | A>V | A:70 | (26.53, 11.61, 22.98) | |
| 10:90341968 | rs199960560 | K>I | A:72 | (20.42, 13.49, 24.23) |
| 10:90341959 | R>H | A:75 | (20.89, 9.29, 32.42) | |
| 10:90341960 | rs147588689 | R>C | A:75 | (20.89, 9.29, 32.42) |
| 10:90341452 | L>P | A:80 | (25.35, 0.28, 30.76) | |
| 10:90341443 | Y>C | A:83 | (26.54, -1.41, 36.88) | |
| 10:90341434 | L>S | A:86 | (28.34, -1.99, 27.58) | |
| 10:90341432 | R>G | A:87 | (33.82, -4.71, 27.16) | |
| 10:90341417 | rs375317118 | P>S | A:92 | (38.17, -6.68, 13.73) |
| 10:90341407 | G>V | A:95 | (32.23, -2.90, 6.21) | |
| 10:90341385 | rs149825485 | D>E | A:102 | (30.64, 7.03, 15.35) |
| 10:90341386 | D>G | A:102 | (30.64, 7.03, 15.35) | |
| 10:90341383 | C>S | A:103 | (31.60, 4.70, 19.52) | |
| 10:90341359 | rs140158928 | I>T | A:111 | (23.23, -7.83, 23.75) |
| 10:90341351 | rs367718389 | I>V | A:114 | (21.39, -4.49, 28.45) |
| 10:90332795 | R>C | A:131 | (-0.69, -14.56, 23.50) | |
| 10:90332784 | rs139294588 | Q>H | A:134 | (-8.79, -9.45, 24.70) |
| 10:90332786 | Q>K | A:134 | (-8.79, -9.45, 24.70) | |
| 10:90332782 | I>N | A:135 | (-6.75, -4.79, 26.32) | |
| 10:90332774 | R>G | A:138 | (-14.60, -4.54, 31.79) | |
| 10:90332762 | W>G | A:142 | (-7.25, -0.71, 31.11) | |
| 10:90332749 | K>R | A:146 | (-3.66, -14.51, 29.91) | |
| 10:90332743 | T>R | A:148 | (-3.36, -19.67, 29.77) | |
| 10:90332721 | D>E | A:155 | (-4.36, 1.14, 37.36) | |
| 10:90332723 | COSM3807913 COSM3807912 |
D>N | A:155 | (-4.36, 1.14, 37.36) |
| 10:90332714 | V>L | A:158 | (3.09, 0.32, 28.56) | |
| 10:90332708 | T>P | A:160 | (6.64, -2.41, 23.96) | |
| 10:90332703 | rs41317260 | M>I | A:161 | (4.04, -5.08, 21.19) |
| 10:90332669 | I>V | A:173 | (-7.58, -1.78, 22.12) | |
| 10:90122468 | rs78525460 | Q>K | A:181 | (-4.69, 6.99, 16.38) |
| 10:90122447 | V>L | A:188 | (4.29, 1.15, 10.72) | |
| 10:90122431 | rs556716831 COSM76272 COSM1349652 COSM1349651 |
R>Q | A:193 | (16.71, -9.44, 8.12) |
| 10:90122429 | Y>H | A:194 | (14.96, -16.45, 8.52) | |
| 10:90122398 | COSM4016456 COSM4016455 |
T>M | A:204 | (39.93, -21.85, 14.53) |
| 10:90122388 | rs116376263 | D>E | A:207 | (40.62, -18.26, 11.82) |
| 10:90122384 | P>S | A:209 | (41.21, -11.85, 10.26) | |
| 10:90122378 | A>T | A:211 | (34.85, -10.71, 14.00) | |
| 10:90122360 | rs151245420 | S>G | A:217 | (27.88, -9.91, -2.96) |
| 10:90122354 | P>S | A:219 | (22.19, -13.95, -2.53) | |
| 10:90122344 | rs191733133 | R>H | A:222 | (24.10, -7.60, 4.59) |
| 10:90122345 | R>C | A:222 | (24.10, -7.60, 4.59) | |
| 10:90122339 | V>I | A:224 | (29.21, -13.18, 9.28) | |
| 10:90122335 | S>F | A:225 | (29.67, -12.95, 13.66) | |
| 10:90122332 | rs188639368 | I>T | A:226 | (33.24, -14.60, 15.09) |
| 10:90122333 | rs143744963 | I>V | A:226 | (33.24, -14.60, 15.09) |
| 10:90122318 | R>C | A:231 | (31.40, -11.73, 23.47) | |
| 10:90122314 | rs117446494 | N>S | A:232 | (37.57, -10.26, 23.70) |
| 10:90074395 | S>L | A:235 | (38.44, -18.74, 27.50) | |
| 10:90074396 | rs148749882 | S>P | A:235 | (38.44, -18.74, 27.50) |
| 10:90074381 | rs149300466 | P>S | A:240 | (33.61, -21.39, 18.64) |
| 10:90074374 | L>P | A:242 | (28.96, -18.49, 13.50) | |
| 10:90074375 | L>I | A:242 | (28.96, -18.49, 13.50) | |
| 10:90074359 | T>S | A:247 | (18.82, -10.61, 2.95) | |
| 10:90074357 | V>I | A:248 | (15.25, -8.41, 3.38) | |
| 10:90074353 | P>L | A:249 | (15.12, -10.31, -0.00) | |
| 10:90074354 | P>A | A:249 | (15.12, -10.31, -0.00) | |
| 10:90074338 | rs200181983 | Y>C | A:254 | (12.63, -18.66, 1.83) |
| 10:90074331 | E>D | A:256 | (4.92, -18.35, 5.10) | |
| 10:90074330 | H>N | A:257 | (9.27, -21.59, 3.29) | |
| 10:90074323 | I>T | A:259 | (12.72, -23.60, 10.41) | |
| 10:90074321 | E>K | A:260 | (14.75, -28.34, 9.29) | |
| 10:90074303 | V>L | A:266 | (21.98, -20.40, 5.28) | |
| 10:90074282 | rs376888167 | I>V | A:273 | (31.04, -16.64, 2.33) |
| 10:90074275 | P>L | A:275 | (35.56, -22.20, 2.76) | |
| 10:90074261 | P>A | A:280 | (28.01, -27.66, 13.52) | |
| 10:90074237 | W>R | A:288 | (14.28, -11.89, 14.38) | |
| 10:90074229 | H>Q | A:290 | (8.00, -8.05, 12.86) | |
| 10:90074227 | S>L | A:291 | (13.60, -6.80, 11.79) | |
| 10:90045220 | H>L | A:307 | (-7.86, 6.06, 27.55) | |
| 10:90045218 | H>Y | A:308 | (-5.18, 9.98, 28.88) | |
| 10:90045203 | A>P | A:313 | (0.58, 3.49, 25.77) | |
| 10:90045194 | G>R | A:316 | (9.02, 1.91, 20.48) | |
| 10:90045191 | D>N | A:317 | (11.40, 0.30, 17.13) | |
| 10:90045151 | S>F | A:330 | (10.40, 5.60, 23.21) | |
| 10:90045143 | C>G | A:333 | (8.46, 9.86, 25.40) | |
| 10:90045136 | rs544985084 | L>P | A:335 | (8.29, 8.43, 31.79) |
| 10:90045127 | L>S | A:338 | (3.17, 8.41, 32.74) |