General Structure Information
| PDB ID | 1zjk |
| HGNC Gene Label(s) | MASP2 |
| Structure Name | crystal structure of the zymogen catalytic region of human masp-2 |
| Resolution | 2.18Å |
| Reference | AUTH P.GAL,V.HARMAT,A.KOCSIS,T.BIAN,L.BARNA,G.AMBRUS,B.VEGH,AUTH 2 J.BALCZER,R.B.SIM,G.NARAY-SZABO,P.ZAVODSZKYTITL A TRUE AUTOACTIVATING ENZYME: STRUCTURAL INSIGHT INTOTITL 2 MANNOSE-BINDING LECTIN-ASSOCIATED SERINE PROTEASE-2TITL 3 ACTIVATIONSREF J.BIOL.CHEM. V. 280 33435 2005REFN ISSN 0021-9258PMID 16040602DOI 10.1074/JBC.M506051200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 390 |
| Number Of SNVs | 126 |
| Number Of Permutations | 84384 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.013 |
| p-value | 0.452 |
COSMIC
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 126 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 26.0 |
| K Statistic | -0.388 |
| p-value | 0.453 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:11097856 | P>R | A:301 | (-41.29, 51.87, 56.16) | |
| 1:11097846 | rs565567376 | M>I | A:304 | (-36.96, 44.58, 59.89) |
| 1:11097839 | P>S | A:307 | (-32.17, 36.78, 58.06) | |
| 1:11097827 | rs72550866 | V>I | A:311 | (-29.23, 48.19, 58.85) |
| 1:11097823 | COSM2118690 | S>L | A:312 | (-25.92, 50.60, 58.18) |
| 1:11097803 | I>L | A:319 | (-37.10, 60.16, 55.36) | |
| 1:11097791 | S>R | A:323 | (-30.32, 55.75, 53.09) | |
| 1:11097787 | F>C | A:324 | (-31.42, 50.97, 54.08) | |
| 1:11097788 | F>V | A:324 | (-31.42, 50.97, 54.08) | |
| 1:11097773 | E>K | A:329 | (-23.41, 37.22, 58.86) | |
| 1:11097767 | G>C | A:331 | (-20.75, 33.60, 54.37) | |
| 1:11097763 | Y>C | A:332 | (-24.27, 33.99, 55.50) | |
| 1:11097754 | L>P | A:335 | (-29.40, 36.79, 47.14) | |
| 1:11094935 | rs373454122 | A>E | A:346 | (-32.30, 51.86, 50.03) |
| 1:11094908 | rs61735596 | D>V | A:355 | (-36.24, 51.91, 45.88) |
| 1:11094906 | rs201990552 COSM3471060 |
R>W | A:356 | (-35.34, 48.59, 46.69) |
| 1:11094890 | C>Y | A:361 | (-28.73, 37.16, 53.86) | |
| 1:11094885 | rs577530717 | I>L | A:363 | (-25.29, 30.15, 53.35) |
| 1:11090937 | V>I | A:364 | (-22.01, 30.61, 50.64) | |
| 1:11090930 | C>Y | A:366 | (-19.46, 25.60, 47.21) | |
| 1:11090931 | C>G | A:366 | (-19.46, 25.60, 47.21) | |
| 1:11090928 | G>S | A:367 | (-21.32, 22.85, 45.85) | |
| 1:11090916 | rs12711521 | D>Y | A:371 | (-16.11, 13.94, 40.19) |
| 1:11090910 | P>S | A:373 | (-10.00, 11.82, 38.68) | |
| 1:11090903 | G>D | A:375 | (-11.23, 8.79, 42.99) | |
| 1:11090897 | rs2273346 | V>A | A:377 | (-15.70, 12.36, 47.83) |
| 1:11090894 | E>G | A:378 | (-15.54, 11.42, 52.88) | |
| 1:11090885 | rs143981111 | T>I | A:381 | (-19.81, 18.31, 57.97) |
| 1:11090847 | Y>H | A:394 | (-11.46, 14.99, 47.38) | |
| 1:11090840 | rs185903926 | C>Y | A:396 | (-6.80, 8.23, 45.98) |
| 1:11090837 | E>A | A:397 | (-8.18, 4.51, 43.26) | |
| 1:11090835 | rs376983296 | E>K | A:398 | (-5.93, 0.95, 47.74) |
| 1:11090823 | T>S | A:402 | (-0.44, 8.97, 45.27) | |
| 1:11090818 | COSM893669 | M>I | A:403 | (-3.03, 12.66, 47.32) |
| 1:11090820 | M>L | A:403 | (-3.03, 12.66, 47.32) | |
| 1:11090814 | rs61735594 | V>M | A:405 | (-1.29, 19.08, 45.55) |
| 1:11090301 | rs370149868 | Y>C | A:410 | (-10.35, 20.69, 49.43) |
| 1:11090295 | C>Y | A:412 | (-16.72, 26.14, 52.01) | |
| 1:11090287 | rs61735593 | D>N | A:415 | (-14.82, 32.48, 47.74) |
| 1:11090276 | W>C | A:418 | (-15.55, 23.07, 48.19) | |
| 1:11090262 | G>E | A:423 | (-5.49, 27.72, 49.05) | |
| 1:11090254 | S>P | A:426 | (-8.05, 23.28, 42.37) | |
| 1:11090247 | P>L | A:428 | (-6.84, 17.10, 44.08) | |
| 1:11087693 | rs372402760 | S>L | A:437 | (7.38, -5.23, 39.57) |
| 1:11087694 | rs572449800 | S>P | A:437 | (7.38, -5.23, 39.57) |
| 1:11087687 | rs12085877 | R>H | A:439 | (11.68, -8.67, 38.18) |
| 1:11087688 | COSM893659 | R>C | A:439 | (11.68, -8.67, 38.18) |
| 1:11087672 | rs571956287 | R>H | A:444 | (22.25, -11.95, 36.69) |
| 1:11087673 | rs376909147 | R>C | A:444 | (22.25, -11.95, 36.69) |
| 1:11087669 | I>T | A:445 | (19.01, -15.89, 35.60) | |
| 1:11087670 | I>V | A:445 | (19.01, -15.89, 35.60) | |
| 1:11087667 | Y>H | A:446 | (24.30, -14.71, 31.47) | |
| 1:11087663 | G>E | A:447 | (20.31, -13.64, 29.69) | |
| 1:11087661 | G>R | A:448 | (17.62, -14.19, 28.21) | |
| 1:11087652 | A>T | A:451 | (8.24, -11.61, 30.29) | |
| 1:11087636 | rs550061047 | F>C | A:456 | (9.19, -5.25, 32.42) |
| 1:11087637 | F>L | A:456 | (9.19, -5.25, 32.42) | |
| 1:11087618 | I>T | A:462 | (6.23, 3.59, 19.55) | |
| 1:11087619 | I>V | A:462 | (6.23, 3.59, 19.55) | |
| 1:11087583 | rs369045722 | Y>H | A:474 | (4.02, 10.93, 35.89) |
| 1:11087576 | N>S | A:476 | (0.03, 11.73, 30.81) | |
| 1:11087567 | L>R | A:479 | (10.79, 8.41, 28.30) | |
| 1:11087559 | A>T | A:482 | (14.99, 11.28, 19.72) | |
| 1:11087550 | V>I | A:485 | (10.30, 10.17, 17.52) | |
| 1:11087546 | rs199585831 | Y>C | A:486 | (13.94, 14.46, 14.38) |
| 1:11087547 | Y>H | A:486 | (13.94, 14.46, 14.38) | |
| 1:11087543 | E>G | A:487 | (11.69, 11.29, 11.03) | |
| 1:11087533 | H>Q | A:490 | (7.02, 18.59, 12.48) | |
| 1:11087532 | D>H | A:491 | (2.81, 13.90, 12.54) | |
| 1:11087529 | A>T | A:492 | (1.87, 13.26, 16.68) | |
| 1:11087516 | D>G | A:496 | (0.05, 3.57, 17.45) | |
| 1:11087510 | R>Q | A:498 | (-0.13, -0.39, 20.36) | |
| 1:11087492 | R>K | A:504 | (4.97, -7.59, 18.12) | |
| 1:11087489 | L>P | A:505 | (1.36, -9.17, 17.07) | |
| 1:11087456 | A>V | A:516 | (2.92, 16.16, 21.81) | |
| 1:11087442 | COSM527458 | E>K | A:521 | (16.67, 21.69, 22.85) |
| 1:11087432 | T>N | A:524 | (21.72, 16.81, 16.07) | |
| 1:11087429 | H>R | A:525 | (18.61, 12.84, 13.20) | |
| 1:11087423 | A>V | A:527 | (25.15, 14.34, 14.65) | |
| 1:11087421 | G>S | A:528 | (24.76, 11.94, 16.86) | |
| 1:11087411 | rs201361542 | N>S | A:531 | (21.34, 15.28, 23.98) |
| 1:11087405 | I>T | A:533 | (15.81, 12.66, 25.46) | |
| 1:11087402 | A>V | A:534 | (12.03, 12.22, 24.15) | |
| 1:11087387 | N>S | A:539 | (-4.39, 12.95, 23.87) | |
| 1:11087378 | V>A | A:542 | (-3.56, 5.47, 31.06) | |
| 1:11087375 | V>A | A:543 | (-5.96, 2.69, 33.46) | |
| 1:11087370 | N>D | A:545 | (-3.28, -1.90, 36.02) | |
| 1:11087361 | I>V | A:548 | (-0.64, -0.23, 32.89) | |
| 1:11087357 | rs561094721 | T>M | A:549 | (2.83, 0.95, 36.15) |
| 1:11087358 | rs137957386 COSM107607 |
T>A | A:549 | (2.83, 0.95, 36.15) |
| 1:11087337 | rs145666903 | K>E | A:556 | (19.60, 12.51, 43.40) |
| 1:11087333 | rs373806675 COSM3360209 |
E>A | A:557 | (20.54, 9.58, 45.41) |
| 1:11087303 | I>T | A:567 | (22.73, -5.06, 37.67) | |
| 1:11087301 | rs151221694 | G>R | A:568 | (20.40, -3.67, 34.66) |
| 1:11087284 | rs145092859 | W>C | A:573 | (8.78, -6.62, 22.00) |
| 1:11087272 | rs144471433 | Q>H | A:577 | (18.23, -6.82, 17.74) |
| 1:11087265 | rs377154906 | F>L | A:580 | (13.19, -13.32, 12.78) |
| 1:11087241 | V>F | A:588 | (18.75, -8.45, 29.69) | |
| 1:11087238 | rs372314306 | D>N | A:589 | (19.75, -8.74, 33.83) |
| 1:11087233 | I>M | A:590 | (22.83, -5.48, 31.61) | |
| 1:11087231 | rs147385743 | P>L | A:591 | (26.44, -4.93, 33.56) |
| 1:11087225 | V>A | A:593 | (30.64, -0.66, 31.60) | |
| 1:11087223 | D>H | A:594 | (34.23, 1.97, 33.29) | |
| 1:11087214 | K>E | A:597 | (36.31, 0.71, 29.15) | |
| 1:11087207 | rs142154589 | T>I | A:599 | (35.06, 6.13, 25.92) |
| 1:11087205 | A>T | A:600 | (38.05, 3.76, 24.54) | |
| 1:11087190 | P>S | A:605 | (40.75, 1.82, 14.80) | |
| 1:11087186 | P>H | A:606 | (37.56, 1.71, 12.16) | |
| 1:11087181 | P>A | A:608 | (34.17, 7.66, 15.54) | |
| 1:11087169 | V>L | A:612 | (31.11, 8.24, 24.50) | |
| 1:11087165 | rs75093796 | T>I | A:613 | (29.06, 11.70, 25.94) |
| 1:11087157 | M>V | A:616 | (26.27, 8.84, 26.99) | |
| 1:11087147 | A>G | A:619 | (25.82, -1.59, 29.18) | |
| 1:11087144 | G>D | A:620 | (26.91, -5.20, 29.11) | |
| 1:11087121 | rs148079537 | S>G | A:628 | (21.83, -10.76, 24.82) |
| 1:11087118 | C>G | A:629 | (21.40, -7.11, 23.64) | |
| 1:11087103 | rs532646305 COSM1214591 |
G>R | A:634 | (13.71, 3.89, 23.73) |
| 1:11087100 | rs138934492 | G>R | A:635 | (14.08, 2.12, 25.98) |
| 1:11087084 | rs556836063 | L>P | A:640 | (16.08, -1.99, 42.45) |
| 1:11087082 | rs538181296 | D>N | A:641 | (15.74, 2.11, 44.96) |
| 1:11087079 | rs138855941 | S>G | A:642 | (17.14, -0.90, 47.60) |
| 1:11087072 | rs368027667 | T>R | A:644 | (12.26, 2.29, 47.60) |
| 1:11087064 | W>R | A:647 | (12.75, -1.89, 39.32) | |
| 1:11087058 | V>L | A:649 | (14.71, 5.28, 34.32) | |
| 1:11087048 | I>T | A:652 | (17.21, 6.03, 27.03) | |
| 1:11087045 | V>A | A:653 | (17.96, 2.36, 24.19) | |
| 1:11087039 | rs377283331 | W>S | A:655 | (25.42, 4.60, 20.69) |
| 1:11087036 | G>D | A:656 | (25.42, 0.49, 19.04) | |
| 1:11087037 | G>R | A:656 | (25.42, 0.49, 19.04) | |
| 1:11087013 | G>R | A:664 | (33.62, -4.59, 23.34) | |
| 1:11087007 | rs535938819 | Y>D | A:666 | (30.61, -2.47, 25.81) |
| 1:11086997 | Y>C | A:669 | (22.05, 2.48, 27.25) | |
| 1:11086979 | Y>C | A:675 | (18.96, 14.82, 30.14) | |
| 1:11086971 | W>R | A:678 | (14.01, 18.09, 28.75) | |
| 1:11086967 | I>T | A:679 | (11.91, 15.64, 32.22) | |
| 1:11086964 | rs568261585 | E>G | A:680 | (11.07, 18.44, 36.52) |
| 1:11086965 | E>K | A:680 | (11.07, 18.44, 36.52) | |
| 1:11086958 | I>T | A:682 | (8.27, 19.53, 29.56) | |
| 1:11086959 | rs371372023 | I>V | A:682 | (8.27, 19.53, 29.56) |
| 1:11086950 | rs141174563 | D>N | A:685 | (3.28, 23.39, 30.70) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:11094907 | COSM893673 | D>E | A:355 | (-36.24, 51.91, 45.88) |
| 1:11090897 | COSM4985031 | V>A | A:377 | (-15.70, 12.36, 47.83) |
| 1:11087589 | COSM2153148 | L>F | A:472 | (4.36, 5.24, 31.40) |