General Structure Information
| PDB ID | 3hju |
| HGNC Gene Label(s) | MGLL |
| Structure Name | crystal structure of human monoglyceride lipase |
| Resolution | 2.2Å |
| Reference | AUTH G.LABAR,C.BAUVOIS,F.BOREL,J.-L.FERRER,J.WOUTERS,D.M.LAMBERTTITL CRYSTAL STRUCTURE OF THE HUMAN MONOACYLGLYCEROL LIPASE, ATITL 2 KEY ACTOR IN ENDOCANNABINOID SIGNALINGREF CHEMBIOCHEM V. 11 218 2010REFN ISSN 1439-4227PMID 19957260DOI 10.1002/CBIC.200900621 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 291 |
| Number Of SNVs | 72 |
| Number Of Permutations | 9893 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.021 |
| p-value | 0.39 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:127540642 | P>L | A:7 | (-31.04, 13.08, -18.58) | |
| 3:127540636 | R>Q | A:9 | (-27.32, 14.12, -24.90) | |
| 3:127540633 | T>I | A:10 | (-25.23, 8.94, -25.27) | |
| 3:127540630 | P>L | A:11 | (-21.34, 9.01, -25.95) | |
| 3:127540628 | Q>K | A:12 | (-23.27, 7.77, -29.08) | |
| 3:127540624 | S>N | A:13 | (-24.95, 12.61, -28.97) | |
| 3:127540595 | rs369526429 | V>I | A:23 | (-34.02, 4.46, -13.44) |
| 3:127540591 | N>S | A:24 | (-30.55, 2.54, -11.11) | |
| 3:127540579 | Q>R | A:28 | (-27.27, 4.81, -13.05) | |
| 3:127540570 | F>S | A:31 | (-30.78, 0.00, -23.70) | |
| 3:127540567 | C>Y | A:32 | (-33.92, -1.54, -22.23) | |
| 3:127540568 | C>G | A:32 | (-33.92, -1.54, -22.23) | |
| 3:127540564 | R>K | A:33 | (-32.50, -4.46, -26.29) | |
| 3:127540562 | rs142243700 | Y>H | A:34 | (-38.24, -4.67, -23.88) |
| 3:127540550 | rs201233462 | T>A | A:38 | (-48.22, -11.12, -31.25) |
| 3:127500710 | G>R | A:52 | (-18.14, -5.93, -22.46) | |
| 3:127500701 | S>G | A:55 | (-28.27, -6.62, -25.25) | |
| 3:127500695 | R>C | A:57 | (-23.25, -9.86, -29.07) | |
| 3:127500689 | E>K | A:59 | (-31.44, -9.99, -31.69) | |
| 3:127500676 | rs374522575 | R>Q | A:63 | (-35.22, -12.35, -33.48) |
| 3:127500647 | rs371613630 | F>L | A:73 | (-36.81, -9.27, -19.85) |
| 3:127500644 | rs375426665 | A>T | A:74 | (-33.06, -6.81, -21.40) |
| 3:127441401 | G>R | A:81 | (-23.32, -0.08, -23.71) | |
| 3:127441392 | rs201772034 | E>K | A:84 | (-25.72, 5.92, -17.52) |
| 3:127441377 | V>L | A:89 | (-16.74, 0.38, -13.42) | |
| 3:127441361 | H>R | A:94 | (-25.78, -6.81, -5.31) | |
| 3:127441359 | COSM1037939 | V>I | A:95 | (-25.26, -3.10, -8.71) |
| 3:127441353 | rs140105585 | V>I | A:97 | (-28.09, -8.55, -8.83) |
| 3:127441321 | M>I | A:107 | (-41.79, -7.00, -16.63) | |
| 3:127441318 | Q>H | A:108 | (-42.89, -10.46, -12.21) | |
| 3:127441319 | rs545496742 | Q>P | A:108 | (-42.89, -10.46, -12.21) |
| 3:127441310 | Y>C | A:111 | (-46.64, -9.50, -18.31) | |
| 3:127441302 | L>V | A:114 | (-46.08, -15.18, -16.35) | |
| 3:127441299 | P>S | A:115 | (-43.49, -18.10, -15.75) | |
| 3:127441290 | L>F | A:118 | (-32.78, -16.20, -15.55) | |
| 3:127441275 | M>V | A:123 | (-20.49, -11.28, -15.87) | |
| 3:127440000 | A>T | A:126 | (-23.00, -14.97, -12.20) | |
| 3:127439994 | rs201835629 | A>T | A:128 | (-28.08, -15.45, -12.57) |
| 3:127439984 | T>M | A:131 | (-30.51, -13.40, -9.20) | |
| 3:127439978 | rs375488233 | A>V | A:133 | (-29.98, -17.13, -4.72) |
| 3:127439979 | rs200703589 CM109138 |
A>T | A:133 | (-29.98, -17.13, -4.72) |
| 3:127439976 | E>K | A:134 | (-31.16, -12.55, -3.63) | |
| 3:127439969 | rs528804510 | P>L | A:136 | (-35.14, -18.75, -3.14) |
| 3:127439967 | G>S | A:137 | (-38.31, -20.31, -5.98) | |
| 3:127439964 | rs546251969 | H>Y | A:138 | (-39.11, -15.92, -7.97) |
| 3:127439957 | A>V | A:140 | (-38.38, -21.53, -13.42) | |
| 3:127439950 | rs376576148 | M>I | A:142 | (-30.91, -20.57, -14.69) |
| 3:127439952 | rs575807410 | M>V | A:142 | (-30.91, -20.57, -14.69) |
| 3:127439946 | L>I | A:144 | (-26.12, -20.97, -17.37) | |
| 3:127439943 | I>V | A:145 | (-24.01, -19.73, -21.93) | |
| 3:127439939 | S>W | A:146 | (-19.96, -20.05, -20.34) | |
| 3:127429498 | rs374353919 COSM1037938 |
A>V | A:164 | (-5.10, -5.56, -6.00) |
| 3:127429486 | N>S | A:168 | (-7.79, 0.07, -6.14) | |
| 3:127429441 | V>G | A:183 | (-10.06, -17.11, -26.83) | |
| 3:127414030 | D>N | A:192 | (-13.85, -10.24, -37.02) | |
| 3:127414002 | C>Y | A:201 | (-15.25, -2.91, -23.89) | |
| 3:127413999 | rs1804711 | R>Q | A:202 | (-12.71, -4.28, -27.76) |
| 3:127414000 | R>W | A:202 | (-12.71, -4.28, -27.76) | |
| 3:127413976 | rs138122374 | G>S | A:210 | (-11.43, -7.41, -10.76) |
| 3:127413971 | I>M | A:211 | (-11.43, -6.46, -7.01) | |
| 3:127413957 | A>V | A:216 | (-18.44, -12.79, -7.84) | |
| 3:127413955 | COSM1291597 | V>I | A:217 | (-16.21, -15.97, -7.81) |
| 3:127413948 | R>Q | A:219 | (-20.51, -12.42, -3.69) | |
| 3:127413949 | rs374766358 | R>W | A:219 | (-20.51, -12.42, -3.69) |
| 3:127413942 | E>A | A:221 | (-17.82, -20.85, -3.40) | |
| 3:127413939 | R>H | A:222 | (-20.67, -17.59, -0.25) | |
| 3:127413940 | R>C | A:222 | (-20.67, -17.59, -0.25) | |
| 3:127413937 | rs371817663 COSM1215048 |
A>T | A:223 | (-24.65, -19.79, -3.48) |
| 3:127413916 | P>S | A:230 | (-34.30, -25.14, -12.42) | |
| 3:127413899 | Q>H | A:235 | (-18.89, -25.29, -20.98) | |
| 3:127413885 | rs372843202 | R>H | A:240 | (-7.69, -19.98, -23.10) |
| 3:127411164 | rs565931301 CM109137 |
I>M | A:263 | (-19.63, -30.56, -22.76) |
| 3:127411124 | rs370215802 | E>K | A:277 | (-21.06, -27.77, -35.40) |
| 3:127411109 | rs141947789 | V>I | A:282 | (-26.82, -23.98, -28.37) |
| 3:127411103 | H>Y | A:284 | (-32.44, -27.98, -30.41) | |
| 3:127411093 | rs201635673 | N>I | A:287 | (-36.05, -24.78, -28.07) |
| 3:127411079 | Q>E | A:292 | (-39.85, -29.63, -22.06) | |
| 3:127411066 | T>M | A:296 | (-44.96, -26.78, -16.86) | |
| 3:127411064 | rs138910107 | A>T | A:297 | (-46.92, -23.37, -16.39) |