General Structure Information
| PDB ID | 3e6u |
| HGNC Gene Label(s) | LANCL1 |
| Structure Name | crystal structure of human lancl1 |
| Resolution | 2.6Å |
| Reference | AUTH W.ZHANG,L.WANG,Y.LIU,J.XU,G.ZHU,H.CANG,X.LI,AUTH 2 M.BARTLAM,K.HENSLEY,G.LI,Z.RAO,X.C.ZHANGTITL STRUCTURE OF HUMAN LANTHIONINE SYNTHETASE C-LIKETITL 2 PROTEIN 1 AND ITS INTERACTION WITH EPS8 ANDTITL 3 GLUTATHIONEREF GENES DEV. V. 23 1387 2009REFN ISSN 0890-9369PMID 19528316DOI 10.1101/GAD.1789209 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 399 |
| Number Of SNVs | 132 |
| Number Of Permutations | 47668 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.046 |
| p-value | 0.352 |
COSMIC
| Number Of Residues | 399 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1529 |
| Optimal Distance Threshold | 26.0 |
| K Statistic | 0.167 |
| p-value | 0.368 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 132 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 26.0 |
| K Statistic | -0.464 |
| p-value | 0.262 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:211341107 | A>G | A:5 | (16.54, 165.20, 196.57) | |
| 2:211341096 | P>S | A:9 | (25.67, 158.51, 196.30) | |
| 2:211341092 | rs370376380 | Y>C | A:10 | (25.65, 156.44, 193.22) |
| 2:211341089 | A>V | A:11 | (30.70, 158.18, 191.53) | |
| 2:211341086 | D>V | A:12 | (30.81, 160.61, 187.78) | |
| 2:211341083 | COSM3783397 | Y>F | A:13 | (32.68, 157.65, 183.09) |
| 2:211341080 | N>S | A:14 | (35.85, 156.18, 185.89) | |
| 2:211341081 | rs201205857 | N>H | A:14 | (35.85, 156.18, 185.89) |
| 2:211341066 | E>K | A:19 | (35.61, 147.96, 183.75) | |
| 2:211341056 | F>C | A:22 | (29.62, 149.66, 180.56) | |
| 2:211341054 | D>H | A:23 | (31.68, 146.15, 177.32) | |
| 2:211336799 | L>P | A:28 | (25.10, 145.43, 180.37) | |
| 2:211336793 | P>R | A:30 | (26.84, 139.36, 182.60) | |
| 2:211336794 | P>S | A:30 | (26.84, 139.36, 182.60) | |
| 2:211336789 | E>D | A:31 | (27.16, 140.73, 187.68) | |
| 2:211336790 | E>V | A:31 | (27.16, 140.73, 187.68) | |
| 2:211336791 | E>K | A:31 | (27.16, 140.73, 187.68) | |
| 2:211336778 | rs541123400 | R>H | A:35 | (22.46, 143.08, 190.37) |
| 2:211336779 | R>C | A:35 | (22.46, 143.08, 190.37) | |
| 2:211336769 | N>S | A:38 | (17.33, 138.46, 189.65) | |
| 2:211336765 | rs369638285 COSM3962293 |
K>N | A:39 | (14.94, 143.45, 191.72) |
| 2:211336766 | rs145822948 | K>R | A:39 | (14.94, 143.45, 191.72) |
| 2:211336760 | R>Q | A:41 | (12.81, 136.91, 187.27) | |
| 2:211336743 | M>V | A:47 | (3.10, 143.75, 189.93) | |
| 2:211336713 | rs142719586 | R>W | A:57 | (-14.16, 149.83, 186.15) |
| 2:211336703 | T>S | A:60 | (-5.64, 153.83, 181.93) | |
| 2:211336704 | T>A | A:60 | (-5.64, 153.83, 181.93) | |
| 2:211336701 | rs139516654 | G>S | A:61 | (-1.97, 153.62, 181.24) |
| 2:211336698 | Y>H | A:62 | (-0.87, 157.97, 184.06) | |
| 2:211320033 | A>S | A:69 | (0.05, 145.51, 178.94) | |
| 2:211320030 | V>L | A:70 | (2.50, 148.27, 177.79) | |
| 2:211320008 | D>A | A:77 | (9.86, 141.89, 173.02) | |
| 2:211320002 | rs372346977 | F>S | A:79 | (13.12, 138.72, 179.33) |
| 2:211319993 | P>L | A:82 | (5.72, 132.69, 176.71) | |
| 2:211319991 | A>T | A:83 | (3.86, 134.22, 180.00) | |
| 2:211319988 | rs199718830 | Y>H | A:84 | (6.35, 137.72, 180.63) |
| 2:211319981 | Q>R | A:86 | (-0.83, 134.69, 177.64) | |
| 2:211319972 | H>R | A:89 | (-4.88, 138.21, 176.24) | |
| 2:211319963 | V>E | A:92 | (-5.92, 143.83, 176.97) | |
| 2:211319961 | rs369885403 | K>Q | A:93 | (-9.34, 140.35, 178.10) |
| 2:211319957 | Q>R | A:94 | (-9.01, 143.59, 182.78) | |
| 2:211319942 | rs551069033 | L>S | A:99 | (-13.87, 151.71, 176.91) |
| 2:211319939 | T>I | A:100 | (-15.30, 156.12, 178.69) | |
| 2:211319933 | rs371433604 COSM2715566 |
R>H | A:102 | (-14.92, 160.91, 179.85) |
| 2:211319934 | R>C | A:102 | (-14.92, 160.91, 179.85) | |
| 2:211319925 | T>A | A:105 | (-5.09, 159.70, 175.28) | |
| 2:211319908 | D>E | A:110 | (-10.46, 154.88, 175.06) | |
| 2:211319909 | D>V | A:110 | (-10.46, 154.88, 175.06) | |
| 2:211319900 | rs562369667 | P>L | A:113 | (-7.04, 150.42, 175.49) |
| 2:211319895 | A>S | A:115 | (-3.54, 150.13, 170.56) | |
| 2:211319889 | A>T | A:117 | (-5.10, 145.46, 171.62) | |
| 2:211319886 | rs370249839 | A>T | A:118 | (-4.06, 145.70, 168.27) |
| 2:211319874 | rs151334050 | H>N | A:122 | (-0.28, 141.36, 164.79) |
| 2:211319865 | COSM271353 | N>D | A:125 | (-1.66, 135.44, 164.55) |
| 2:211319861 | N>I | A:126 | (-6.74, 137.75, 166.13) | |
| 2:211319857 | E>D | A:127 | (-5.61, 139.87, 161.91) | |
| 2:211319849 | A>E | A:130 | (-6.96, 143.88, 165.25) | |
| 2:211319850 | A>T | A:130 | (-6.96, 143.88, 165.25) | |
| 2:211319841 | C>R | A:133 | (-9.32, 147.61, 167.13) | |
| 2:211319831 | R>Q | A:136 | (-13.30, 150.18, 168.74) | |
| 2:211306161 | rs142557584 | I>M | A:138 | (-9.33, 155.56, 163.08) |
| 2:211306159 | H>R | A:139 | (-14.35, 155.86, 163.96) | |
| 2:211306157 | L>V | A:140 | (-11.45, 157.58, 169.25) | |
| 2:211306144 | rs369029984 | D>G | A:144 | (-12.78, 166.02, 171.57) |
| 2:211306138 | rs202027938 | H>P | A:146 | (-13.11, 171.71, 170.45) |
| 2:211306139 | rs568983336 | H>Y | A:146 | (-13.11, 171.71, 170.45) |
| 2:211306135 | rs139476683 | A>D | A:147 | (-8.81, 168.91, 172.04) |
| 2:211306111 | rs150808869 | R>Q | A:155 | (-5.11, 167.42, 169.21) |
| 2:211306109 | I>V | A:156 | (0.46, 164.72, 171.03) | |
| 2:211306105 | G>A | A:157 | (-1.43, 161.35, 172.61) | |
| 2:211306106 | rs141236725 | G>S | A:157 | (-1.43, 161.35, 172.61) |
| 2:211306094 | A>T | A:161 | (-1.56, 155.49, 169.47) | |
| 2:211306091 | rs182044267 | L>F | A:162 | (-1.99, 156.59, 165.75) |
| 2:211306083 | rs143543405 | F>L | A:164 | (2.21, 151.32, 169.93) |
| 2:211306078 | rs75174340 | N>S | A:166 | (2.00, 152.21, 162.16) |
| 2:211306079 | N>D | A:166 | (2.00, 152.21, 162.16) | |
| 2:211306069 | F>S | A:169 | (0.86, 145.97, 163.07) | |
| 2:211306063 | V>A | A:171 | (2.80, 148.13, 157.32) | |
| 2:211306055 | rs369706201 | I>F | A:174 | (-2.79, 154.24, 160.66) |
| 2:211306038 | I>M | A:179 | (-1.21, 161.25, 161.08) | |
| 2:211306039 | I>T | A:179 | (-1.21, 161.25, 161.08) | |
| 2:211305462 | E>K | A:184 | (-2.21, 170.15, 159.26) | |
| 2:211305434 | L>Q | A:193 | (-3.34, 180.73, 171.14) | |
| 2:211305426 | K>E | A:196 | (-6.62, 184.62, 170.07) | |
| 2:211305416 | F>S | A:199 | (3.13, 184.67, 173.31) | |
| 2:211305413 | rs141178650 | T>M | A:200 | (3.20, 186.24, 167.30) |
| 2:211305408 | K>E | A:202 | (7.69, 186.57, 172.44) | |
| 2:211305402 | rs200162143 | P>S | A:204 | (5.44, 181.49, 166.40) |
| 2:211305394 | M>I | A:206 | (1.47, 179.03, 172.40) | |
| 2:211305395 | M>T | A:206 | (1.47, 179.03, 172.40) | |
| 2:211305392 | Y>C | A:207 | (0.31, 175.01, 171.79) | |
| 2:211305357 | H>Y | A:219 | (0.16, 168.37, 180.76) | |
| 2:211305338 | Y>F | A:225 | (7.03, 172.66, 170.38) | |
| 2:211305333 | Y>H | A:227 | (5.32, 163.92, 169.41) | |
| 2:211305322 | Q>H | A:230 | (9.35, 163.40, 165.33) | |
| 2:211302595 | P>L | A:231 | (10.09, 162.73, 161.20) | |
| 2:211302590 | L>F | A:233 | (4.26, 164.15, 162.47) | |
| 2:211302584 | V>L | A:235 | (6.41, 169.43, 159.36) | |
| 2:211302579 | S>R | A:236 | (7.01, 171.59, 156.09) | |
| 2:211302577 | Q>P | A:237 | (12.09, 171.80, 156.08) | |
| 2:211302567 | L>F | A:240 | (10.17, 172.76, 160.67) | |
| 2:211302565 | H>L | A:241 | (13.36, 176.17, 159.78) | |
| 2:211302554 | K>E | A:245 | (13.87, 176.94, 165.30) | |
| 2:211302545 | V>I | A:248 | (11.96, 175.51, 170.54) | |
| 2:211302540 | D>E | A:249 | (14.42, 178.87, 170.27) | |
| 2:211302539 | Y>H | A:250 | (9.63, 181.33, 174.52) | |
| 2:211302514 | S>F | A:258 | (19.77, 175.57, 187.00) | |
| 2:211302503 | P>S | A:262 | (9.69, 176.26, 184.07) | |
| 2:211302490 | G>D | A:266 | (6.42, 182.50, 185.24) | |
| 2:211302486 | D>E | A:267 | (6.61, 179.45, 187.21) | |
| 2:211302487 | D>G | A:267 | (6.61, 179.45, 187.21) | |
| 2:211302479 | rs144579426 | D>Y | A:270 | (13.89, 175.70, 190.46) |
| 2:211302461 | C>R | A:276 | (6.00, 166.02, 184.09) | |
| 2:211302452 | rs149749262 | A>T | A:279 | (14.41, 168.50, 182.57) |
| 2:211302446 | G>R | A:281 | (11.15, 166.43, 179.35) | |
| 2:211302443 | V>I | A:282 | (12.62, 169.63, 178.25) | |
| 2:211302432 | M>I | A:285 | (12.76, 169.82, 172.94) | |
| 2:211302434 | M>V | A:285 | (12.76, 169.82, 172.94) | |
| 2:211302430 | rs371454243 | L>P | A:286 | (16.67, 170.04, 173.80) |
| 2:211302431 | L>V | A:286 | (16.67, 170.04, 173.80) | |
| 2:211301115 | rs6723823 | V>E | A:292 | (16.22, 168.47, 163.12) |
| 2:211301116 | V>L | A:292 | (16.22, 168.47, 163.12) | |
| 2:211301100 | rs147390013 | K>M | A:297 | (21.81, 176.18, 170.69) |
| 2:211301101 | K>E | A:297 | (21.81, 176.18, 170.69) | |
| 2:211301098 | Y>H | A:298 | (19.19, 173.42, 170.02) | |
| 2:211301091 | C>Y | A:300 | (24.54, 172.43, 175.14) | |
| 2:211301082 | rs373538841 | Y>C | A:303 | (25.69, 167.46, 177.06) |
| 2:211301077 | rs200558329 | C>R | A:305 | (19.59, 168.64, 181.55) |
| 2:211301068 | rs148198424 | V>M | A:308 | (20.21, 168.95, 186.70) |
| 2:211301055 | rs143380318 | Y>C | A:312 | (19.57, 168.36, 192.10) |
| 2:211301046 | L>P | A:315 | (12.97, 162.10, 193.18) | |
| 2:211301040 | K>R | A:317 | (7.59, 162.21, 194.58) | |
| 2:211301032 | G>R | A:320 | (9.00, 156.63, 188.54) | |
| 2:211301029 | L>V | A:321 | (8.22, 156.61, 184.50) | |
| 2:211301026 | C>G | A:322 | (5.87, 160.90, 185.71) | |
| 2:211301020 | rs200373437 | G>S | A:324 | (11.07, 159.69, 189.02) |
| 2:211301011 | COSM1691906 | G>W | A:327 | (12.42, 158.54, 184.26) |
| 2:211301005 | A>S | A:329 | (17.14, 157.75, 183.64) | |
| 2:211301001 | Y>C | A:330 | (14.12, 156.05, 180.19) | |
| 2:211300974 | rs368641862 | T>I | A:339 | (26.50, 160.65, 172.32) |
| 2:211300964 | rs548131574 | M>I | A:342 | (29.86, 155.18, 177.41) |
| 2:211300966 | M>V | A:342 | (29.86, 155.18, 177.41) | |
| 2:211300962 | K>M | A:343 | (29.28, 160.52, 181.29) | |
| 2:211300180 | rs370816113 | A>S | A:352 | (19.40, 151.38, 188.49) |
| 2:211300161 | rs370723275 | Y>F | A:358 | (11.23, 149.81, 194.94) |
| 2:211300162 | Y>N | A:358 | (11.23, 149.81, 194.94) | |
| 2:211300149 | G>V | A:362 | (11.67, 156.26, 202.46) | |
| 2:211300138 | P>A | A:366 | (2.84, 155.23, 195.11) | |
| 2:211300131 | T>I | A:368 | (-1.28, 153.80, 191.55) | |
| 2:211300122 | S>C | A:371 | (1.40, 151.99, 188.02) | |
| 2:211299243 | T>S | A:390 | (20.58, 150.56, 171.87) | |
| 2:211299232 | R>S | A:393 | (13.26, 154.10, 172.99) | |
| 2:211299217 | E>D | A:398 | (11.20, 158.54, 173.29) | |
| 2:211299215 | L>P | A:399 | (9.16, 157.83, 168.75) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:211336761 | COSM209839 | R>W | A:41 | (12.81, 136.91, 187.27) |
| 2:211336712 | COSM2715570 | R>Q | A:57 | (-14.16, 149.83, 186.15) |
| 2:211306111 | COSM1015856 | R>Q | A:155 | (-5.11, 167.42, 169.21) |
| 2:211302499 | COSM3577059 | P>L | A:263 | (6.42, 174.37, 185.52) |