General Structure Information
| PDB ID | 4h1y |
| HGNC Gene Label(s) | NT5E |
| Structure Name | human ecto-5-nucleotidase (cd73): crystal form ii (open) in complex with psb11552 |
| Resolution | 1.58Å |
| Reference | AUTH K.KNAPP,M.ZEBISCH,J.PIPPEL,A.EL-TAYEB,C.E.MULLER,N.STRATERTITL CRYSTAL STRUCTURE OF THE HUMAN ECTO-5-NUCLEOTIDASE (CD73):TITL 2 INSIGHTS INTO THE REGULATION OF PURINERGIC SIGNALING.REF STRUCTURE V. 20 2161 2012REFN ISSN 0969-2126PMID 23142347DOI 10.1016/J.STR.2012.10.001 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 523 |
| Number Of SNVs | 144 |
| Number Of Permutations | 67687 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.013 |
| p-value | 0.512 |
COSMIC
| Number Of Residues | 523 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1491 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.4 |
| p-value | 0.092 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 144 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.295 |
| p-value | 0.181 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 6:86159958 | T>S | P:34 | (19.47, 33.63, 14.38) | |
| 6:86159970 | H>R | P:38 | (21.37, 24.13, 18.86) | |
| 6:86159981 | E>Q | P:42 | (10.33, 20.29, 13.42) | |
| 6:86159985 | rs534674647 | Q>R | P:43 | (6.48, 23.57, 15.12) |
| 6:86159990 | S>G | P:45 | (7.34, 23.55, 22.67) | |
| 6:86159998 | rs369010777 | D>E | P:47 | (9.94, 23.87, 26.33) |
| 6:86160009 | C>Y | P:51 | (5.19, 19.70, 19.03) | |
| 6:86160015 | rs374757389 | N>S | P:53 | (-0.75, 21.95, 21.23) |
| 6:86160024 | rs369193143 | R>H | P:56 | (-0.49, 26.57, 23.06) |
| 6:86160033 | G>D | P:59 | (8.93, 28.12, 15.43) | |
| 6:86160041 | rs200250022 | A>S | P:62 | (8.46, 27.71, 8.29) |
| 6:86160054 | T>I | P:66 | (6.50, 33.78, 7.16) | |
| 6:86160059 | V>I | P:68 | (12.00, 36.96, 6.94) | |
| 6:86160068 | I>V | P:71 | (10.56, 41.93, 7.57) | |
| 6:86160083 | P>T | P:76 | (14.62, 48.65, 2.39) | |
| 6:86160087 | N>S | P:77 | (18.10, 48.35, 3.83) | |
| 6:86160089 | V>M | P:78 | (17.48, 43.43, 5.26) | |
| 6:86160101 | D>H | P:82 | (23.43, 32.62, 12.35) | |
| 6:86160104 | A>T | P:83 | (25.74, 33.40, 15.54) | |
| 6:86160114 | Q>P | P:86 | (22.10, 26.05, 13.07) | |
| 6:86160138 | rs568624079 | T>N | P:94 | (21.72, 12.46, 13.97) |
| 6:86160170 | M>V | P:105 | (20.50, 28.58, 6.41) | |
| 6:86160188 | D>Y | P:111 | (22.90, 37.50, 4.21) | |
| 6:86176789 | N>K | P:117 | (30.74, 25.41, 19.71) | |
| 6:86176804 | N>K | P:122 | (30.86, 15.92, 13.25) | |
| 6:86176815 | G>E | P:126 | (31.76, 18.04, 9.16) | |
| 6:86176823 | E>Q | P:129 | (32.37, 17.84, 3.34) | |
| 6:86176839 | E>G | P:134 | (26.67, 22.76, -0.17) | |
| 6:86176844 | K>E | P:136 | (23.92, 29.34, -1.62) | |
| 6:86176853 | I>V | P:139 | (30.65, 30.67, 6.74) | |
| 6:86176863 | A>V | P:142 | (38.83, 35.83, 12.55) | |
| 6:86176877 | K>Q | P:147 | (48.17, 24.16, 10.11) | |
| 6:86176879 | K>N | P:147 | (48.17, 24.16, 10.11) | |
| 6:86176889 | A>P | P:151 | (45.32, 25.11, 5.32) | |
| 6:86176895 | rs200369370 | Q>E | P:153 | (42.52, 20.82, 2.97) |
| 6:86176896 | Q>R | P:153 | (42.52, 20.82, 2.97) | |
| 6:86176916 | P>T | P:160 | (37.75, 36.73, 8.03) | |
| 6:86176932 | P>L | P:165 | (26.09, 44.34, -0.95) | |
| 6:86176941 | D>V | P:168 | (23.27, 52.20, -3.01) | |
| 6:86176946 | V>L | P:170 | (28.91, 48.58, 1.86) | |
| 6:86176955 | I>V | P:173 | (30.00, 41.01, 8.39) | |
| 6:86176956 | I>T | P:173 | (30.00, 41.01, 8.39) | |
| 6:86176958 | COSM1187100 | V>I | P:174 | (33.67, 40.51, 11.77) |
| 6:86176961 | G>R | P:175 | (34.06, 37.01, 12.86) | |
| 6:86176964 | Y>H | P:176 | (32.87, 36.59, 17.26) | |
| 6:86176998 | P>L | P:187 | (38.22, 20.90, 16.76) | |
| 6:86180961 | N>T | P:190 | (45.33, 20.76, 12.64) | |
| 6:86180976 | D>G | P:195 | (41.93, 36.63, 21.74) | |
| 6:86181003 | V>E | P:204 | (38.10, 46.32, 11.94) | |
| 6:86181026 | V>M | P:212 | (34.18, 49.70, 5.16) | |
| 6:86181029 | N>Y | P:213 | (31.56, 53.26, 7.18) | |
| 6:86181039 | I>T | P:216 | (28.28, 43.86, 11.79) | |
| 6:86181051 | H>R | P:220 | (29.26, 31.30, 19.26) | |
| 6:86181059 | F>V | P:223 | (26.11, 39.27, 27.02) | |
| 6:86181069 | D>G | P:226 | (29.59, 39.80, 22.94) | |
| 6:86181074 | rs144535109 | L>F | P:228 | (34.71, 42.70, 26.39) |
| 6:86181095 | rs200664520 COSM3922218 COSM3922219 |
G>S | P:235 | (34.72, 50.18, 14.87) |
| 6:86181098 | V>M | P:236 | (32.58, 47.64, 16.23) | |
| 6:86181104 | rs550591725 | V>L | P:238 | (26.78, 46.23, 15.83) |
| 6:86181110 | rs201657741 | V>M | P:240 | (25.42, 39.92, 16.49) |
| 6:86181123 | S>C | P:244 | (24.79, 32.53, 26.17) | |
| 6:86181137 | Y>H | P:249 | (12.01, 42.37, 25.26) | |
| 6:86181143 | G>R | P:251 | (9.90, 45.33, 28.19) | |
| 6:86194979 | rs565537252 COSM1312417 |
A>S | P:260 | (19.44, 39.94, 31.05) |
| 6:86194992 | P>Q | P:264 | (19.69, 47.14, 22.54) | |
| 6:86195000 | V>I | P:267 | (28.56, 49.15, 25.29) | |
| 6:86195018 | COSM197578 | R>W | P:273 | (31.78, 54.21, 19.55) |
| 6:86195019 | R>Q | P:273 | (31.78, 54.21, 19.55) | |
| 6:86195024 | V>L | P:275 | (28.12, 49.70, 20.94) | |
| 6:86195025 | V>A | P:275 | (28.12, 49.70, 20.94) | |
| 6:86195033 | rs41271617 | V>I | P:278 | (22.29, 41.82, 19.96) |
| 6:86195034 | V>A | P:278 | (22.29, 41.82, 19.96) | |
| 6:86195040 | A>D | P:280 | (18.08, 35.62, 20.39) | |
| 6:86195045 | A>S | P:282 | (17.43, 29.83, 21.44) | |
| 6:86195074 | K>N | P:291 | (15.25, 49.20, 12.88) | |
| 6:86195078 | E>K | P:293 | (19.18, 55.56, 12.30) | |
| 6:86195079 | E>A | P:293 | (19.18, 55.56, 12.30) | |
| 6:86195099 | rs148199616 | V>I | P:300 | (25.30, 54.67, 15.29) |
| 6:86195111 | COSM1239645 | H>Y | P:304 | (14.73, 50.57, 17.31) |
| 6:86195112 | H>R | P:304 | (14.73, 50.57, 17.31) | |
| 6:86195120 | P>S | P:307 | (13.02, 40.08, 20.33) | |
| 6:86195123 | I>V | P:308 | (9.98, 38.76, 16.80) | |
| 6:86195124 | rs201782026 | I>T | P:308 | (9.98, 38.76, 16.80) |
| 6:86195140 | S>R | P:313 | (0.22, 34.20, 15.00) | |
| 6:86197055 | P>T | P:318 | (3.19, 26.43, 2.99) | |
| 6:86197068 | rs570714428 | A>V | P:322 | (6.46, 20.43, 2.70) |
| 6:86197078 | N>K | P:325 | (6.78, 17.15, 6.22) | |
| 6:86197082 | rs147019457 | W>R | P:327 | (14.89, 17.00, 4.09) |
| 6:86197089 | I>T | P:329 | (10.28, 10.30, 5.44) | |
| 6:86197098 | COSM3875894 | D>G | P:332 | (10.27, 8.72, 10.78) |
| 6:86197121 | G>R | P:340 | (22.49, -1.82, 19.02) | |
| 6:86197149 | S>C | P:349 | (13.15, 1.75, 37.10) | |
| 6:86197157 | S>T | P:352 | (15.76, 1.44, 40.80) | |
| 6:86197163 | rs200648774 | R>C | P:354 | (13.04, 8.28, 41.41) |
| 6:86197176 | rs387906620 CM110837 |
C>Y | P:358 | (20.88, 2.31, 38.03) |
| 6:86197199 | D>H | P:366 | (29.63, 5.79, 31.25) | |
| 6:86197200 | D>A | P:366 | (29.63, 5.79, 31.25) | |
| 6:86197207 | M>I | P:368 | (27.55, 11.92, 29.85) | |
| 6:86199224 | L>V | P:373 | (36.64, 12.14, 25.45) | |
| 6:86199233 | rs2229523 | T>A | P:376 | (44.96, 16.54, 25.97) |
| 6:86199243 | rs2229524 | M>T | P:379 | (48.63, 18.88, 32.89) |
| 6:86199244 | M>I | P:379 | (48.63, 18.88, 32.89) | |
| 6:86199257 | rs375139069 | V>I | P:384 | (35.88, 15.71, 32.20) |
| 6:86199264 | rs551037246 | M>T | P:386 | (33.14, 14.13, 37.44) |
| 6:86199267 | C>Y | P:387 | (28.57, 12.34, 36.01) | |
| 6:86199278 | G>R | P:391 | (16.37, 9.93, 38.16) | |
| 6:86199291 | R>Q | P:395 | (10.79, 9.32, 32.97) | |
| 6:86199293 | rs566262245 | S>P | P:396 | (12.35, 3.87, 30.52) |
| 6:86199300 | I>T | P:398 | (15.66, -0.68, 27.38) | |
| 6:86199308 | rs144719925 | R>C | P:401 | (14.20, -11.17, 27.26) |
| 6:86199309 | rs139549986 | R>P | P:401 | (14.20, -11.17, 27.26) |
| 6:86199314 | rs138876213 | N>H | P:403 | (17.76, -9.90, 19.22) |
| 6:86199315 | N>S | P:403 | (17.76, -9.90, 19.22) | |
| 6:86200228 | T>P | P:405 | (17.51, -4.30, 19.61) | |
| 6:86200242 | E>D | P:409 | (11.40, 4.58, 19.24) | |
| 6:86200250 | A>V | P:412 | (13.19, 8.62, 23.57) | |
| 6:86200268 | rs146054415 | G>E | P:418 | (15.11, 17.78, 25.19) |
| 6:86200274 | rs370017735 | T>I | P:420 | (21.44, 19.07, 26.99) |
| 6:86200277 | rs72905321 | F>Y | P:421 | (23.64, 15.24, 28.69) |
| 6:86200289 | Q>P | P:425 | (33.53, 24.84, 36.38) | |
| 6:86200297 | G>C | P:428 | (32.93, 20.70, 46.26) | |
| 6:86200298 | G>V | P:428 | (32.93, 20.70, 46.26) | |
| 6:86200319 | F>S | P:435 | (25.87, 13.93, 46.06) | |
| 6:86200324 | H>D | P:437 | (18.83, 17.83, 47.37) | |
| 6:86200330 | V>M | P:439 | (19.47, 11.80, 50.33) | |
| 6:86200331 | V>G | P:439 | (19.47, 11.80, 50.33) | |
| 6:86200336 | R>C | P:441 | (12.50, 14.50, 49.59) | |
| 6:86200337 | rs377417331 COSM1082169 |
R>H | P:441 | (12.50, 14.50, 49.59) |
| 6:86200342 | rs373069568 COSM1187101 |
G>S | P:443 | (11.65, 7.32, 50.19) |
| 6:86200351 | T>A | P:446 | (11.99, 11.88, 44.85) | |
| 6:86200360 | rs376616753 | F>L | P:449 | (19.02, 9.14, 44.07) |
| 6:86201699 | I>M | P:455 | (31.34, 10.07, 41.54) | |
| 6:86201719 | S>F | P:462 | (21.00, 7.32, 60.30) | |
| 6:86201722 | rs201008460 COSM3430920 |
R>Q | P:463 | (24.39, 10.91, 59.99) |
| 6:86201731 | G>E | P:466 | (22.88, 17.18, 55.54) | |
| 6:86201733 | D>N | P:467 | (25.35, 14.82, 58.01) | |
| 6:86201742 | rs142656691 | V>I | P:470 | (29.84, 9.23, 54.93) |
| 6:86201767 | K>T | P:478 | (45.72, 15.81, 36.91) | |
| 6:86201768 | K>N | P:478 | (45.72, 15.81, 36.91) | |
| 6:86201791 | P>L | P:486 | (39.30, 12.32, 48.54) | |
| 6:86201797 | K>R | P:488 | (39.37, 17.85, 48.12) | |
| 6:86201799 | M>L | P:489 | (34.96, 21.32, 50.12) | |
| 6:86201805 | rs143859595 | E>K | P:491 | (39.19, 21.07, 43.84) |
| 6:86201812 | rs151304292 | Y>C | P:493 | (35.98, 19.12, 41.38) |
| 6:86201817 | V>M | P:495 | (30.54, 18.11, 36.18) | |
| 6:86201838 | A>T | P:502 | (22.12, 23.63, 35.60) | |
| 6:86201842 | N>S | P:503 | (18.89, 25.45, 34.85) | |
| 6:86201848 | G>A | P:505 | (16.35, 21.33, 39.22) | |
| 6:86201853 | G>R | P:507 | (16.31, 21.59, 43.91) | |
| 6:86201886 | rs141170507 | H>Y | P:518 | (26.46, 26.31, 31.92) |
| 6:86201890 | D>G | P:519 | (29.28, 25.52, 28.64) | |
| 6:86203567 | D>Y | P:524 | (19.69, 13.86, 25.68) | |
| 6:86203576 | V>M | P:527 | (25.18, 11.27, 24.01) | |
| 6:86203585 | rs34160251 | T>A | P:530 | (27.05, 7.87, 19.74) |
| 6:86203592 | I>N | P:532 | (24.91, 2.31, 22.10) | |
| 6:86203604 | K>R | P:536 | (29.21, -2.54, 18.30) | |
| 6:86203607 | V>A | P:537 | (27.67, -5.15, 22.67) | |
| 6:86203609 | I>V | P:538 | (25.74, -2.65, 26.04) | |
| 6:86203612 | Y>H | P:539 | (28.92, -5.64, 29.09) | |
| 6:86203615 | P>T | P:540 | (25.53, -2.25, 31.83) | |
| 6:86203630 | R>W | P:545 | (29.20, 3.88, 39.93) | |
| 6:86203631 | rs371449832 COSM1487963 |
R>Q | P:545 | (29.20, 3.88, 39.93) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 6:86159948 | COSM3662747 | I>V | P:31 | (20.04, 43.55, 11.91) |
| 6:86160088 | COSM3662748 | N>K | P:77 | (18.10, 48.35, 3.83) |
| 6:86195018 | COSM197578 | R>W | P:273 | (31.78, 54.21, 19.55) |
| 6:86195099 | COSM75659 | V>I | P:300 | (25.30, 54.67, 15.29) |
| 6:86197130 | COSM75660 | I>V | P:343 | (23.82, -8.72, 26.86) |