General Structure Information
| PDB ID | 4a6e |
| HGNC Gene Label(s) | ASMT |
| Structure Name | crystal structure of human n-acetylserotonin methyltransferase (asmt) in complex with sam and n-acetylserotonin |
| Resolution | 2.7Å |
| Reference | AUTH H.G.BOTROS,P.LEGRAND,C.PAGAN,V.BONDET,P.WEBER,AUTH 2 M.BEN-ABDALLAH,N.LEMIERE,G.HUGUET,J.BELLALOU,E.MARONDE,AUTH 3 P.BEGUIN,A.HAOUZ,W.SHEPARD,T.BOURGERONTITL CRYSTAL STRUCTURE AND FUNCTIONAL MAPPING OF HUMAN ASMT, THETITL 2 LAST ENZYME OF THE MELATONIN SYNTHESIS PATHWAY.REF J.PINEAL RES. V. 54 46 2013REFN ISSN 0742-3098PMID 22775292DOI 10.1111/J.1600-079X.2012.01020.X |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 343 |
| Number Of SNVs | 127 |
| Number Of Permutations | 59679 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.132 |
| p-value | 0.58 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| X:1734108 | D>N | A:6 | (21.52, 61.78, 51.46) | |
| X:1734120 | rs143703303 | R>C | A:10 | (19.78, 58.94, 45.42) |
| X:1734121 | R>H | A:10 | (19.78, 58.94, 45.42) | |
| X:1734126 | L>V | A:12 | (13.24, 56.87, 50.47) | |
| X:1734129 | N>H | A:13 | (12.91, 58.46, 46.36) | |
| X:1734134 | D>E | A:14 | (14.88, 54.28, 44.68) | |
| X:1734136 | rs185229802 | Y>S | A:15 | (13.30, 51.54, 48.54) |
| X:1734138 | A>T | A:16 | (8.74, 55.03, 46.34) | |
| X:1734144 | G>S | A:18 | (8.68, 51.11, 42.17) | |
| X:1734151 | rs150043934 | M>T | A:20 | (6.20, 54.35, 39.14) |
| X:1734153 | V>L | A:21 | (9.41, 50.79, 37.50) | |
| X:1742033 | V>A | A:24 | (6.66, 50.76, 32.89) | |
| X:1742038 | F>L | A:26 | (3.93, 45.02, 34.93) | |
| X:1742044 | A>T | A:28 | (4.95, 46.92, 27.88) | |
| X:1742047 | C>G | A:29 | (4.01, 43.43, 28.38) | |
| X:1742050 | E>K | A:30 | (-0.13, 44.96, 29.67) | |
| X:1742056 | G>C | A:32 | (3.48, 44.59, 22.95) | |
| X:1742059 | rs149222772 | V>M | A:33 | (6.24, 47.12, 22.91) |
| X:1742068 | L>F | A:36 | (5.89, 45.51, 17.33) | |
| X:1742074 | rs146923704 | A>T | A:38 | (10.61, 41.32, 17.00) |
| X:1742083 | P>S | A:41 | (11.81, 45.15, 9.78) | |
| X:1742090 | P>L | A:43 | (14.66, 49.79, 13.93) | |
| X:1742098 | rs145866337 | V>M | A:46 | (7.20, 57.01, 18.46) |
| X:1742117 | rs141250190 | G>D | A:52 | (0.96, 48.94, 16.74) |
| X:1742126 | COSM4108408 | A>V | A:55 | (-1.34, 54.32, 21.50) |
| X:1742129 | S>I | A:56 | (-0.56, 57.65, 22.80) | |
| X:1742161 | C>S | A:67 | (12.34, 51.16, 28.76) | |
| X:1742162 | C>S | A:67 | (12.34, 51.16, 28.76) | |
| X:1742171 | L>P | A:70 | (14.71, 50.71, 33.02) | |
| X:1742174 | K>R | A:71 | (19.12, 49.87, 30.22) | |
| X:1742176 | L>M | A:72 | (14.09, 46.99, 29.23) | |
| X:1742186 | rs138070409 | V>A | A:75 | (18.07, 54.41, 21.50) |
| X:1742192 | rs142665738 | T>M | A:77 | (20.12, 58.60, 16.47) |
| X:1742197 | G>R | A:79 | (18.31, 61.87, 12.02) | |
| X:1742201 | G>E | A:80 | (15.43, 63.32, 13.61) | |
| X:1742203 | rs141964565 | K>E | A:81 | (13.22, 60.41, 13.75) |
| X:1743167 | Y>H | A:84 | (12.98, 53.49, 20.33) | |
| X:1743168 | COSM3372188 | Y>C | A:84 | (12.98, 53.49, 20.33) |
| X:1743171 | COSM1118612 COSM3913718 |
R>Q | A:85 | (18.13, 47.97, 19.60) |
| X:1743191 | D>H | A:92 | (16.13, 36.43, 26.22) | |
| X:1743201 | T>I | A:95 | (9.54, 37.77, 23.37) | |
| X:1743204 | T>M | A:96 | (5.65, 35.79, 23.19) | |
| X:1743213 | P>L | A:99 | (11.78, 29.99, 25.15) | |
| X:1743216 | T>M | A:100 | (12.97, 32.13, 28.47) | |
| X:1743223 | Q>H | A:102 | (9.12, 35.44, 32.32) | |
| X:1743225 | C>Y | A:103 | (5.29, 38.09, 29.61) | |
| X:1743251 | rs144722872 | T>A | A:112 | (-3.86, 40.12, 40.12) |
| X:1743261 | R>Q | A:115 | (-6.44, 45.12, 41.91) | |
| X:1743274 | H>Q | A:119 | (-5.98, 46.28, 49.70) | |
| X:1743276 | L>P | A:120 | (-0.09, 45.23, 52.56) | |
| X:1743284 | A>T | A:123 | (-3.27, 42.04, 55.44) | |
| X:1743285 | A>D | A:123 | (-3.27, 42.04, 55.44) | |
| X:1743287 | V>M | A:124 | (-0.56, 43.25, 57.98) | |
| X:1746612 | Y>H | A:131 | (-8.38, 37.43, 46.63) | |
| X:1746616 | L>P | A:132 | (-14.00, 40.44, 49.69) | |
| X:1746619 | E>G | A:133 | (-11.34, 43.32, 50.58) | |
| X:1746622 | rs139938699 | T>M | A:134 | (-9.60, 43.68, 45.70) |
| X:1746625 | F>Y | A:135 | (-10.55, 41.23, 42.84) | |
| X:1746628 | G>A | A:136 | (-15.61, 40.87, 45.52) | |
| X:1746636 | A>T | A:139 | (-11.70, 33.24, 49.89) | |
| X:1746648 | F>V | A:143 | (-7.10, 28.03, 44.15) | |
| X:1746649 | F>S | A:143 | (-7.10, 28.03, 44.15) | |
| X:1748718 | rs147969184 | E>K | A:150 | (-12.99, 30.32, 32.57) |
| X:1748719 | E>G | A:150 | (-12.99, 30.32, 32.57) | |
| X:1748721 | rs192710293 | G>S | A:151 | (-9.44, 33.85, 32.30) |
| X:1748724 | COSM611936 | E>K | A:152 | (-7.73, 35.17, 36.22) |
| X:1748727 | R>W | A:153 | (-8.90, 28.89, 34.99) | |
| X:1748728 | COSM4108410 | R>Q | A:153 | (-8.90, 28.89, 34.99) |
| X:1748739 | M>V | A:157 | (-2.45, 27.85, 33.94) | |
| X:1748762 | W>C | A:164 | (9.24, 25.94, 36.77) | |
| X:1748764 | S>N | A:165 | (12.20, 28.29, 31.38) | |
| X:1748766 | V>I | A:166 | (14.88, 29.60, 33.95) | |
| X:1748770 | N>S | A:167 | (14.45, 27.33, 38.14) | |
| X:1748772 | G>R | A:168 | (13.94, 23.40, 36.27) | |
| X:1748779 | S>N | A:170 | (17.92, 23.27, 39.09) | |
| X:1748781 | V>M | A:171 | (14.71, 21.83, 40.76) | |
| X:1748790 | rs189062200 | A>T | A:174 | (19.47, 18.24, 42.58) |
| X:1748812 | P>R | A:181 | (10.36, 5.02, 37.66) | |
| X:1748814 | L>V | A:182 | (5.89, 6.20, 38.27) | |
| X:1748815 | rs145494220 | L>H | A:182 | (5.89, 6.20, 38.27) |
| X:1748826 | L>V | A:186 | (0.68, 16.65, 43.56) | |
| X:1752052 | G>A | A:191 | (2.93, 20.71, 32.77) | |
| X:1752073 | M>R | A:198 | (9.78, 13.39, 31.37) | |
| X:1752085 | P>L | A:202 | (14.32, 9.46, 29.53) | |
| X:1752100 | T>N | A:207 | (0.60, 11.74, 36.44) | |
| X:1752102 | V>I | A:208 | (-0.39, 16.05, 35.89) | |
| X:1752105 | F>L | A:209 | (-3.77, 15.47, 40.84) | |
| X:1752113 | I>M | A:211 | (-8.60, 21.30, 40.07) | |
| X:1752120 | V>M | A:214 | (-6.73, 23.07, 35.75) | |
| X:1752127 | W>S | A:216 | (-11.69, 21.06, 29.73) | |
| X:1752130 | rs148036160 | T>M | A:217 | (-7.78, 24.65, 30.65) |
| X:1752136 | K>T | A:219 | (-6.58, 18.26, 28.30) | |
| X:1752140 | Q>H | A:220 | (-9.09, 23.62, 26.10) | |
| X:1752168 | I>V | A:230 | (2.88, 13.59, 30.06) | |
| X:1752170 | I>M | A:230 | (2.88, 13.59, 30.06) | |
| X:1755333 | D>Y | A:236 | (-9.25, 17.19, 46.13) | |
| X:1755355 | rs138775083 | P>L | A:243 | (-1.81, 9.16, 41.57) |
| X:1755372 | I>V | A:249 | (6.51, 16.43, 42.37) | |
| X:1755378 | A>S | A:251 | (5.41, 22.72, 43.23) | |
| X:1755383 | R>S | A:252 | (5.06, 27.32, 42.88) | |
| X:1755390 | rs141945490 | H>D | A:255 | (3.42, 28.58, 48.64) |
| X:1755393 | D>N | A:256 | (-0.73, 27.90, 48.77) | |
| X:1755398 | W>C | A:257 | (-2.99, 25.58, 51.22) | |
| X:1755405 | G>R | A:260 | (-2.38, 21.69, 58.81) | |
| X:1755409 | K>R | A:261 | (-4.79, 22.55, 54.75) | |
| X:1755418 | H>L | A:264 | (-4.65, 16.30, 55.37) | |
| X:1755420 | L>V | A:265 | (-1.29, 16.79, 51.44) | |
| X:1755430 | R>K | A:268 | (-3.94, 11.91, 51.55) | |
| X:1755434 | rs146121655 | I>M | A:269 | (1.56, 11.92, 50.17) |
| X:1755445 | rs144317424 | C>S | A:273 | (4.02, 6.01, 49.75) |
| X:1755446 | C>W | A:273 | (4.02, 6.01, 49.75) | |
| X:1755450 | P>T | A:275 | (8.77, 1.15, 50.73) | |
| X:1755451 | P>L | A:275 | (8.77, 1.15, 50.73) | |
| X:1761699 | G>A | A:277 | (9.77, 6.64, 48.49) | |
| X:1761701 | G>R | A:278 | (9.11, 10.11, 47.42) | |
| X:1761707 | L>V | A:280 | (10.52, 16.84, 45.03) | |
| X:1761714 | I>T | A:282 | (9.97, 22.55, 44.19) | |
| X:1761733 | rs140913463 | E>D | A:288 | (16.94, 29.03, 59.20) |
| X:1761736 | D>E | A:289 | (17.26, 34.76, 59.91) | |
| X:1761741 | R>Q | A:291 | (16.00, 38.53, 59.20) | |
| X:1761744 | G>A | A:292 | (15.99, 35.89, 53.76) | |
| X:1761750 | rs144850405 | L>P | A:294 | (14.30, 40.80, 49.59) |
| X:1761752 | L>F | A:295 | (12.61, 37.44, 46.04) | |
| X:1761756 | T>M | A:296 | (11.84, 34.77, 49.53) | |
| X:1761761 | rs140206334 | L>F | A:298 | (8.80, 40.33, 48.90) |
| X:1761764 | Y>H | A:299 | (7.92, 35.67, 46.00) | |
| X:1761778 | M>I | A:303 | (1.44, 33.82, 49.75) | |
| X:1761779 | L>I | A:304 | (-0.45, 37.49, 53.90) | |
| X:1761789 | rs142044899 | T>M | A:307 | (-2.54, 32.49, 49.73) |
| X:1761800 | rs151143176 | E>K | A:311 | (7.35, 31.22, 51.74) |
| X:1761804 | R>T | A:312 | (7.04, 27.31, 55.19) | |
| X:1761806 | T>A | A:313 | (12.70, 27.62, 57.01) | |
| X:1761809 | P>A | A:314 | (14.87, 24.57, 55.78) | |
| X:1761821 | rs140152081 | H>D | A:318 | (13.04, 18.26, 58.86) |
| X:1761842 | G>S | A:325 | (7.10, 10.24, 58.20) | |
| X:1761845 | F>L | A:326 | (8.04, 11.63, 54.76) | |
| X:1761849 | R>I | A:327 | (12.04, 10.09, 58.46) | |
| X:1761876 | A>D | A:336 | (17.73, 30.19, 42.45) |