General Structure Information
| PDB ID | 2c5d |
| HGNC Gene Label(s) | GAS6 |
| Structure Name | structure of a minimal gas6-axl complex |
| Resolution | 3.3Å |
| Reference | AUTH T.SASAKI,P.G.KNYAZEV,N.J.CLOUT,Y.CHEBURKIN,AUTH 2 W.GOEHRING,A.ULLRICH,R.TIMPL,E.HOHENESTERTITL STRUCTURAL BASIS FOR GAS6-AXL SIGNALLING.REF EMBO J. V. 25 80 2006REFN ISSN 0261-4189PMID 16362042DOI 10.1038/SJ.EMBOJ.7600912 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 381 |
| Number Of SNVs | 117 |
| Number Of Permutations | 33030 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.125 |
| p-value | 0.135 |
COSMIC
| Number Of Residues | 381 |
| Number Of SNVs | 3 |
| Number Of Permutations | 26 |
| Optimal Distance Threshold | 29.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 117 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | -0.327 |
| p-value | 0.687 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 13:114535709 | rs199643057 | V>A | A:284 | (52.74, 85.40, 87.33) |
| 13:114535710 | rs200207558 COSM4046253 COSM4046255 COSM4046254 |
V>M | A:284 | (52.74, 85.40, 87.33) |
| 13:114535700 | rs376986269 | S>N | A:287 | (63.11, 85.60, 89.07) |
| 13:114535698 | rs79109564 | V>M | A:288 | (62.95, 87.14, 93.33) |
| 13:114535674 | Y>H | A:296 | (70.26, 98.83, 94.33) | |
| 13:114535667 | G>A | A:298 | (69.17, 102.39, 94.40) | |
| 13:114535665 | rs149144442 | R>W | A:299 | (69.67, 100.91, 99.38) |
| 13:114535652 | G>E | A:303 | (70.37, 110.02, 97.53) | |
| 13:114535647 | P>S | A:305 | (75.33, 107.90, 99.67) | |
| 13:114535644 | V>M | A:306 | (75.06, 103.22, 99.14) | |
| 13:114535640 | I>S | A:307 | (79.04, 103.12, 100.22) | |
| 13:114535631 | rs141287368 | R>H | A:310 | (86.88, 109.67, 106.53) |
| 13:114535632 | rs375897325 | R>C | A:310 | (86.88, 109.67, 106.53) |
| 13:114535628 | F>S | A:311 | (90.28, 106.86, 101.85) | |
| 13:114535616 | rs200744856 | Q>R | A:315 | (103.10, 108.75, 102.07) |
| 13:114535614 | COSM1188756 | P>A | A:316 | (101.43, 111.02, 98.89) |
| 13:114535438 | R>Q | A:326 | (73.74, 95.30, 85.65) | |
| 13:114535439 | rs566553692 | R>W | A:326 | (73.74, 95.30, 85.65) |
| 13:114535424 | COSM550774 COSM1649052 |
E>K | A:331 | (70.21, 110.63, 84.80) |
| 13:114535418 | rs140003424 | I>V | A:333 | (75.80, 109.71, 90.72) |
| 13:114535399 | G>A | A:339 | (86.26, 116.84, 99.27) | |
| 13:114535376 | rs144457857 | V>M | A:347 | (81.53, 113.39, 89.86) |
| 13:114535363 | R>K | A:351 | (73.84, 113.64, 82.12) | |
| 13:114535354 | rs548166528 COSM244661 |
R>Q | A:354 | (76.57, 108.28, 76.36) |
| 13:114535352 | L>M | A:355 | (80.46, 108.22, 81.15) | |
| 13:114535336 | rs529145541 | R>H | A:360 | (84.22, 122.32, 91.75) |
| 13:114535337 | rs373825026 | R>C | A:360 | (84.22, 122.32, 91.75) |
| 13:114535329 | rs562664965 | N>K | A:362 | (89.87, 125.09, 93.92) |
| 13:114535330 | N>S | A:362 | (89.87, 125.09, 93.92) | |
| 13:114535328 | G>S | A:363 | (85.82, 126.74, 91.60) | |
| 13:114535322 | rs544430070 | G>S | A:365 | (84.64, 124.30, 86.67) |
| 13:114535318 | rs200492385 | R>H | A:366 | (86.79, 121.33, 84.17) |
| 13:114535304 | rs202194869 | G>S | A:371 | (81.85, 107.36, 75.01) |
| 13:114535300 | rs200979235 | P>L | A:372 | (80.42, 104.29, 75.29) |
| 13:114535273 | T>I | A:381 | (84.88, 97.68, 83.35) | |
| 13:114531670 | E>D | A:386 | (95.04, 110.65, 89.90) | |
| 13:114531671 | E>G | A:386 | (95.04, 110.65, 89.90) | |
| 13:114531665 | A>V | A:388 | (99.76, 111.54, 85.45) | |
| 13:114531662 | R>Q | A:389 | (98.61, 115.13, 85.19) | |
| 13:114531663 | R>W | A:389 | (98.61, 115.13, 85.19) | |
| 13:114531660 | rs142494562 | N>D | A:390 | (96.14, 113.69, 83.10) |
| 13:114531646 | K>N | A:394 | (89.96, 103.01, 81.55) | |
| 13:114531647 | K>R | A:394 | (89.96, 103.01, 81.55) | |
| 13:114531648 | K>E | A:394 | (89.96, 103.01, 81.55) | |
| 13:114531637 | R>S | A:397 | (89.96, 96.53, 81.33) | |
| 13:114531636 | rs371923342 | D>N | A:398 | (89.93, 101.01, 76.37) |
| 13:114531617 | rs146140804 | A>V | A:404 | (93.62, 117.88, 82.46) |
| 13:114531611 | A>D | A:406 | (96.01, 120.95, 88.54) | |
| 13:114531612 | A>T | A:406 | (96.01, 120.95, 88.54) | |
| 13:114531608 | G>V | A:407 | (96.15, 118.25, 91.00) | |
| 13:114531609 | COSM3467455 COSM3467457 COSM3467456 |
G>R | A:407 | (96.15, 118.25, 91.00) |
| 13:114531593 | COSM3676565 COSM3676567 COSM3676566 |
P>L | A:412 | (96.84, 118.25, 102.50) |
| 13:114531590 | E>V | A:413 | (95.22, 117.53, 106.69) | |
| 13:114531587 | rs113292330 | R>Q | A:414 | (96.30, 118.16, 112.14) |
| 13:114531578 | Y>C | A:417 | (98.42, 113.51, 102.35) | |
| 13:114531579 | Y>H | A:417 | (98.42, 113.51, 102.35) | |
| 13:114531575 | rs368960262 | H>L | A:418 | (92.76, 113.66, 104.47) |
| 13:114531573 | rs149411733 | L>V | A:419 | (89.96, 111.13, 99.61) |
| 13:114531561 | rs371632616 | V>M | A:423 | (79.04, 104.92, 96.01) |
| 13:114531549 | P>A | A:427 | (78.38, 114.45, 99.69) | |
| 13:114531534 | rs575809095 | D>N | A:432 | (75.77, 122.78, 95.00) |
| 13:114531528 | rs202080371 | V>M | A:434 | (79.08, 121.79, 87.82) |
| 13:114531522 | rs374326361 | P>S | A:436 | (72.76, 120.06, 87.69) |
| 13:114530133 | rs200903408 | N>S | A:438 | (68.44, 112.73, 89.43) |
| 13:114530130 | P>R | A:439 | (71.27, 111.65, 91.77) | |
| 13:114530131 | rs150223646 | P>S | A:439 | (71.27, 111.65, 91.77) |
| 13:114530127 | R>H | A:440 | (67.50, 109.81, 92.49) | |
| 13:114530128 | R>C | A:440 | (67.50, 109.81, 92.49) | |
| 13:114530113 | M>V | A:445 | (78.51, 98.20, 91.43) | |
| 13:114530107 | COSM1365634 | S>G | A:447 | (84.13, 93.58, 90.89) |
| 13:114530100 | rs201628770 | N>S | A:449 | (89.41, 98.27, 93.65) |
| 13:114530096 | W>C | A:450 | (86.36, 101.34, 95.71) | |
| 13:114530089 | rs578008516 | G>R | A:453 | (91.74, 96.31, 97.56) |
| 13:114530064 | rs202234400 | T>M | A:461 | (77.29, 94.13, 104.75) |
| 13:114530049 | T>M | A:466 | (68.95, 91.16, 100.70) | |
| 13:114530050 | T>P | A:466 | (68.95, 91.16, 100.70) | |
| 13:114530046 | rs369952328 | R>T | A:467 | (66.12, 95.66, 101.07) |
| 13:114530031 | rs553417045 | S>L | A:472 | (70.63, 88.27, 88.96) |
| 13:114530025 | COSM1365635 | T>M | A:474 | (68.17, 92.91, 84.49) |
| 13:114530017 | G>S | A:477 | (61.65, 98.58, 83.35) | |
| 13:114530014 | rs199698744 | S>A | A:478 | (59.49, 99.58, 86.11) |
| 13:114530009 | F>L | A:479 | (59.17, 95.01, 89.92) | |
| 13:114530005 | P>S | A:481 | (56.89, 94.83, 94.65) | |
| 13:114530002 | G>R | A:482 | (53.55, 95.13, 96.23) | |
| 13:114529996 | COSM3356377 COSM3356379 COSM3356378 |
G>S | A:484 | (53.79, 100.37, 97.16) |
| 13:114529979 | S>R | A:489 | (52.72, 116.90, 91.36) | |
| 13:114529980 | rs147049116 | S>N | A:489 | (52.72, 116.90, 91.36) |
| 13:114526490 | T>I | A:504 | (40.60, 122.06, 79.10) | |
| 13:114526482 | V>I | A:507 | (43.59, 112.23, 81.36) | |
| 13:114526469 | A>V | A:511 | (50.17, 101.04, 80.69) | |
| 13:114526470 | COSM945663 | A>T | A:511 | (50.17, 101.04, 80.69) |
| 13:114526460 | rs571029386 | R>H | A:514 | (55.12, 91.47, 81.91) |
| 13:114526461 | COSM1207932 | R>C | A:514 | (55.12, 91.47, 81.91) |
| 13:114526452 | A>T | A:517 | (48.39, 90.03, 90.13) | |
| 13:114526449 | D>H | A:518 | (44.22, 89.31, 90.30) | |
| 13:114526440 | V>M | A:521 | (46.24, 100.36, 91.43) | |
| 13:114526436 | L>P | A:522 | (47.63, 100.30, 87.17) | |
| 13:114526421 | rs144928601 | A>V | A:527 | (42.36, 114.03, 96.83) |
| 13:114526416 | rs370340821 | D>N | A:529 | (42.11, 117.88, 101.44) |
| 13:114526409 | R>H | A:531 | (41.50, 110.89, 102.35) | |
| 13:114526410 | rs368447635 | R>C | A:531 | (41.50, 110.89, 102.35) |
| 13:114526404 | V>M | A:533 | (39.94, 108.27, 94.02) | |
| 13:114526401 | P>S | A:534 | (39.41, 111.31, 91.50) | |
| 13:114526394 | S>C | A:536 | (41.11, 104.80, 88.67) | |
| 13:114526388 | rs149907010 | A>V | A:538 | (42.70, 98.63, 87.61) |
| 13:114525144 | rs375892497 | V>M | A:557 | (35.17, 108.23, 88.65) |
| 13:114525141 | E>Q | A:558 | (34.80, 109.05, 92.95) | |
| 13:114525138 | COSM1747353 COSM1747354 |
H>D | A:559 | (32.05, 105.95, 94.24) |
| 13:114525134 | T>M | A:560 | (31.70, 104.98, 89.88) | |
| 13:114525123 | rs146664338 | L>I | A:564 | (35.02, 97.14, 82.33) |
| 13:114525102 | rs368109588 | D>N | A:571 | (50.03, 85.70, 80.04) |
| 13:114525098 | G>D | A:572 | (53.29, 87.06, 81.01) | |
| 13:114525087 | rs374910916 | V>M | A:576 | (49.06, 98.21, 76.10) |
| 13:114525078 | COSM39285 | V>I | A:579 | (43.01, 105.74, 79.68) |
| 13:114525074 | rs79807310 | S>L | A:580 | (41.35, 108.83, 77.05) |
| 13:114525039 | G>S | A:592 | (43.05, 98.05, 70.74) | |
| 13:114525012 | rs148773342 | A>T | A:601 | (26.20, 109.70, 78.77) |
| 13:114525008 | A>V | A:602 | (24.17, 110.50, 81.63) | |
| 13:114525009 | rs144262744 | A>T | A:602 | (24.17, 110.50, 81.63) |
| 13:114524985 | rs371536576 | V>M | A:610 | (33.00, 115.34, 89.48) |
| 13:114524979 | rs73583241 | E>K | A:612 | (35.81, 119.17, 85.06) |
| 13:114524966 | rs199700915 | R>Q | A:616 | (38.22, 123.04, 88.36) |
| 13:114524955 | L>F | A:620 | (48.73, 113.71, 94.27) | |
| 13:114523973 | rs372674142 | A>V | A:634 | (37.39, 102.44, 94.91) |
| 13:114523970 | rs143026609 | P>L | A:635 | (37.09, 100.09, 92.39) |
| 13:114523961 | A>V | A:638 | (45.51, 97.12, 95.97) | |
| 13:114523962 | A>T | A:638 | (45.51, 97.12, 95.97) | |
| 13:114523925 | rs200546417 | R>Q | A:650 | (51.79, 114.42, 75.02) |
| 13:114523926 | R>W | A:650 | (51.79, 114.42, 75.02) | |
| 13:114523905 | rs201330919 | E>K | A:657 | (62.17, 113.05, 88.41) |
| 13:114523899 | A>T | A:659 | (57.95, 112.90, 95.00) | |
| 13:114523896 | Y>H | A:660 | (57.42, 108.34, 98.07) | |
| 13:114523884 | rs562381726 COSM945661 |
D>N | A:664 | (60.99, 98.01, 97.77) |
| 13:114523881 | I>V | A:665 | (59.67, 100.61, 93.45) | |
| 13:114523877 | T>M | A:666 | (62.77, 98.88, 90.51) | |
| 13:114523865 | C>S | A:670 | (62.27, 94.26, 85.68) | |
| 13:114523851 | P>S | A:675 | (60.31, 79.97, 83.41) | |
| 13:114523848 | A>S | A:676 | (57.24, 77.14, 84.41) | |
| 13:114523845 | A>T | A:677 | (56.71, 75.05, 84.49) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 13:114530107 | COSM1365634 | S>G | A:447 | (84.13, 93.58, 90.89) |
| 13:114530025 | COSM4785015 | T>M | A:474 | (68.17, 92.91, 84.49) |
| 13:114530010 | COSM1365637 | F>S | A:479 | (59.17, 95.01, 89.92) |
| 13:114525017 | COSM1365638 | V>E | A:599 | (27.85, 104.68, 81.92) |
| 13:114523927 | COSM4785654 | N>K | A:649 | (49.62, 113.78, 79.48) |