General Structure Information
| PDB ID | 4kx9 |
| HGNC Gene Label(s) | ENPEP |
| Structure Name | crystal structure of human aminopeptidase a complexed with arginine |
| Resolution | 2.25Å |
| Reference | AUTH Y.YANG,C.LIU,Y.L.LIN,F.LITITL STRUCTURAL INSIGHTS INTO CENTRAL HYPERTENSION REGULATION BYTITL 2 HUMAN AMINOPEPTIDASE A.REF J.BIOL.CHEM. V. 288 25638 2013REFN ISSN 0021-9258PMID 23888046DOI 10.1074/JBC.M113.494955 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 875 |
| Number Of SNVs | 238 |
| Number Of Permutations | 81850 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.005 |
| p-value | 0.478 |
COSMIC
| Number Of Residues | 875 |
| Number Of SNVs | 22 |
| Number Of Permutations | 10228 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.069 |
| p-value | 0.789 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 238 |
| Number Of COSMIC SNVs | 20 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | -0.043 |
| p-value | 0.823 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:111397805 | P>T | A:79 | (-20.43, 52.52, 73.58) | |
| 4:111397817 | COSM1694823 | D>H | A:83 | (-12.70, 60.37, 71.81) |
| 4:111397820 | COSM420241 | E>K | A:84 | (-11.41, 62.19, 67.44) |
| 4:111397823 | S>G | A:85 | (-8.03, 61.78, 71.79) | |
| 4:111397824 | S>N | A:85 | (-8.03, 61.78, 71.79) | |
| 4:111397825 | S>R | A:85 | (-8.03, 61.78, 71.79) | |
| 4:111397826 | rs370568319 | G>R | A:86 | (-6.15, 59.05, 69.42) |
| 4:111397844 | rs143343563 | R>G | A:92 | (-2.78, 52.26, 57.80) |
| 4:111397845 | COSM3599125 | R>Q | A:92 | (-2.78, 52.26, 57.80) |
| 4:111397851 | COSM3940701 | P>L | A:94 | (-1.05, 50.42, 64.72) |
| 4:111397853 | rs570596378 COSM1671208 COSM3599126 |
D>Y | A:95 | (3.82, 49.46, 63.03) |
| 4:111397854 | rs545769710 | D>V | A:95 | (3.82, 49.46, 63.03) |
| 4:111397859 | rs534876489 COSM1485605 |
V>I | A:97 | (-0.01, 45.91, 67.14) |
| 4:111397866 | P>Q | A:99 | (-1.18, 39.64, 64.79) | |
| 4:111397877 | rs146706022 | D>N | A:103 | (-8.26, 31.02, 68.85) |
| 4:111397895 | L>M | A:109 | (-28.78, 30.50, 65.03) | |
| 4:111397907 | D>N | A:113 | (-30.61, 34.98, 59.72) | |
| 4:111397908 | COSM3974666 | D>G | A:113 | (-30.61, 34.98, 59.72) |
| 4:111397911 | rs183715198 | T>S | A:114 | (-28.26, 34.76, 64.00) |
| 4:111397914 | Y>C | A:115 | (-22.89, 35.58, 63.53) | |
| 4:111397935 | S>F | A:122 | (-1.98, 36.40, 69.68) | |
| 4:111397937 | rs574857140 | I>L | A:123 | (-1.29, 40.62, 70.67) |
| 4:111397940 | N>H | A:124 | (3.76, 41.37, 69.29) | |
| 4:111397941 | N>S | A:124 | (3.76, 41.37, 69.29) | |
| 4:111397948 | COSM366484 | S>R | A:126 | (6.16, 47.17, 70.33) |
| 4:111397969 | W>C | A:133 | (-6.14, 50.59, 68.17) | |
| 4:111397980 | rs144015322 | R>Q | A:137 | (-18.47, 46.69, 59.06) |
| 4:111397988 | R>G | A:140 | (-23.83, 43.54, 68.67) | |
| 4:111397994 | T>S | A:142 | (-21.57, 40.44, 73.44) | |
| 4:111397995 | T>S | A:142 | (-21.57, 40.44, 73.44) | |
| 4:111397997 | R>W | A:143 | (-19.21, 39.54, 77.89) | |
| 4:111398000 | rs140663821 | L>V | A:144 | (-16.01, 43.71, 78.66) |
| 4:111398004 | rs375739854 | P>L | A:145 | (-13.43, 42.96, 76.45) |
| 4:111398016 | rs150487146 | R>K | A:149 | (-0.52, 40.92, 81.82) |
| 4:111398034 | V>E | A:155 | (-5.35, 43.05, 81.93) | |
| 4:111398037 | Q>R | A:156 | (-8.45, 46.02, 85.33) | |
| 4:111398047 | rs142566268 | R>S | A:159 | (-14.51, 53.09, 78.87) |
| 4:111398054 | E>K | A:162 | (-17.76, 51.16, 68.36) | |
| 4:111398057 | Y>H | A:163 | (-13.61, 56.17, 65.85) | |
| 4:111398076 | V>A | A:169 | (-13.31, 48.09, 68.70) | |
| 4:111398090 | E>Q | A:174 | (-7.91, 51.09, 84.65) | |
| 4:111398108 | rs75626276 | S>R | A:180 | (6.41, 41.52, 73.52) |
| 4:111398114 | G>R | A:182 | (9.97, 37.43, 73.50) | |
| 4:111398118 | D>V | A:183 | (8.68, 33.59, 73.55) | |
| 4:111398124 | L>P | A:185 | (2.38, 36.76, 72.91) | |
| 4:111398136 | rs375233805 | T>I | A:189 | (-10.87, 37.42, 74.51) |
| 4:111398139 | rs540053490 | M>T | A:190 | (-13.42, 39.94, 71.66) |
| 4:111398151 | COSM1426381 | G>D | A:194 | (-24.54, 38.71, 64.10) |
| 4:111398161 | COSM201212 | N>K | A:197 | (-29.70, 39.19, 57.44) |
| 4:111398162 | COSM1538809 | G>S | A:198 | (-28.84, 41.56, 53.98) |
| 4:111398172 | V>A | A:201 | (-20.59, 40.92, 52.87) | |
| 4:111398183 | rs551997283 | R>G | A:205 | (-29.27, 32.20, 55.37) |
| 4:111398208 | rs10004516 | Q>R | A:213 | (-38.23, 20.80, 51.32) |
| 4:111398210 | V>I | A:214 | (-35.92, 25.55, 51.42) | |
| 4:111409699 | S>I | A:216 | (-29.50, 26.57, 53.94) | |
| 4:111409702 | COSM4121363 | I>T | A:217 | (-25.39, 27.86, 52.21) |
| 4:111409705 | rs1126483 | V>A | A:218 | (-23.25, 29.54, 54.99) |
| 4:111409713 | COSM1205334 | D>N | A:221 | (-16.94, 37.61, 50.91) |
| 4:111409714 | D>G | A:221 | (-16.94, 37.61, 50.91) | |
| 4:111409721 | COSM3599137 | E>D | A:223 | (-11.20, 40.90, 48.84) |
| 4:111409723 | COSM731977 | P>L | A:224 | (-11.51, 44.34, 50.78) |
| 4:111409726 | T>R | A:225 | (-12.86, 45.86, 54.16) | |
| 4:111409732 | A>V | A:227 | (-13.56, 40.46, 57.98) | |
| 4:111409739 | K>N | A:229 | (-19.68, 41.87, 58.71) | |
| 4:111409746 | P>S | A:232 | (-13.44, 40.72, 65.67) | |
| 4:111409749 | C>R | A:233 | (-10.03, 41.78, 62.88) | |
| 4:111409751 | C>W | A:233 | (-10.03, 41.78, 62.88) | |
| 4:111409761 | P>A | A:237 | (-3.25, 43.12, 54.17) | |
| 4:111409773 | A>S | A:241 | (-2.00, 35.45, 61.10) | |
| 4:111409776 | T>S | A:242 | (-2.11, 31.73, 62.57) | |
| 4:111409777 | rs200540684 | T>I | A:242 | (-2.11, 31.73, 62.57) |
| 4:111409782 | T>A | A:244 | (-7.27, 27.92, 64.81) | |
| 4:111409786 | I>T | A:245 | (-11.20, 27.99, 62.30) | |
| 4:111409791 | I>V | A:247 | (-17.81, 25.92, 63.07) | |
| 4:111409799 | H>Q | A:249 | (-22.26, 22.42, 62.69) | |
| 4:111409812 | COSM3916962 | G>R | A:254 | (-21.24, 20.77, 56.97) |
| 4:111409829 | M>I | A:259 | (-7.01, 24.20, 56.71) | |
| 4:111409830 | rs377134824 | P>A | A:260 | (-7.99, 20.45, 56.71) |
| 4:111409834 | V>G | A:261 | (-11.26, 18.42, 59.27) | |
| 4:111409837 | rs373049379 COSM1050050 |
A>V | A:262 | (-9.26, 17.91, 62.73) |
| 4:111412190 | K>I | A:263 | (-11.47, 17.93, 66.62) | |
| 4:111412198 | S>P | A:266 | (-20.93, 15.77, 69.79) | |
| 4:111412220 | rs546059710 | R>Q | A:273 | (-16.60, 22.66, 68.26) |
| 4:111412226 | rs200421305 COSM1694825 |
T>N | A:275 | (-11.95, 21.83, 64.75) |
| 4:111412248 | M>I | A:282 | (-3.80, 33.80, 56.39) | |
| 4:111412273 | V>L | A:291 | (-22.40, 25.79, 56.78) | |
| 4:111412280 | rs377420203 | Q>R | A:293 | (-26.82, 20.24, 53.26) |
| 4:111412302 | I>M | A:300 | (-6.10, 13.35, 43.21) | |
| 4:111412303 | rs370829083 | S>P | A:301 | (-2.82, 16.16, 42.82) |
| 4:111412309 | rs531654231 | S>G | A:303 | (0.79, 16.39, 44.93) |
| 4:111412313 | G>E | A:304 | (-1.78, 13.97, 46.48) | |
| 4:111427818 | Q>R | A:315 | (-26.03, 21.90, 40.23) | |
| 4:111427830 | A>V | A:319 | (-18.55, 20.01, 38.21) | |
| 4:111427832 | rs376732795 | E>K | A:320 | (-17.07, 16.70, 35.91) |
| 4:111427856 | S>G | A:328 | (-4.54, 20.91, 34.58) | |
| 4:111427863 | F>C | A:330 | (-2.78, 22.47, 41.55) | |
| 4:111427872 | F>S | A:333 | (-0.03, 27.54, 37.68) | |
| 4:111427887 | A>V | A:338 | (8.78, 26.20, 41.78) | |
| 4:111430817 | rs148617807 | A>T | A:350 | (-20.82, 27.78, 44.56) |
| 4:111430820 | I>L | A:351 | (-22.24, 30.45, 47.14) | |
| 4:111430826 | D>H | A:353 | (-26.46, 34.86, 46.30) | |
| 4:111430838 | rs142050074 | G>S | A:357 | (-17.09, 36.00, 40.94) |
| 4:111430842 | rs374609714 | A>G | A:358 | (-14.56, 34.92, 42.71) |
| 4:111430845 | rs368712110 | M>T | A:359 | (-12.37, 35.00, 46.78) |
| 4:111430848 | E>G | A:360 | (-8.61, 34.48, 46.38) | |
| 4:111430849 | E>D | A:360 | (-8.61, 34.48, 46.38) | |
| 4:111430852 | COSM1739010 | N>K | A:361 | (-10.81, 32.11, 49.92) |
| 4:111430863 | I>T | A:365 | (-11.84, 28.84, 45.99) | |
| 4:111430866 | rs151125401 | T>M | A:366 | (-15.73, 31.20, 46.77) |
| 4:111430878 | T>M | A:370 | (-21.78, 31.75, 36.03) | |
| 4:111430896 | P>L | A:376 | (-21.55, 20.25, 28.02) | |
| 4:111430901 | COSM1050054 | E>Q | A:378 | (-27.62, 23.21, 27.73) |
| 4:111430902 | E>G | A:378 | (-27.62, 23.21, 27.73) | |
| 4:111430917 | N>S | A:383 | (-20.00, 29.78, 29.30) | |
| 4:111430926 | rs200606594 | R>K | A:386 | (-15.52, 33.69, 32.90) |
| 4:111431420 | T>I | A:405 | (0.40, 39.44, 50.09) | |
| 4:111431455 | G>R | A:417 | (-2.37, 41.06, 37.50) | |
| 4:111431474 | E>G | A:423 | (-5.96, 34.09, 33.54) | |
| 4:111431500 | T>A | A:432 | (-3.92, 23.65, 22.96) | |
| 4:111431506 | W>R | A:434 | (-9.69, 27.37, 24.35) | |
| 4:111434572 | rs34949711 | R>H | A:437 | (-0.18, 33.98, 25.52) |
| 4:111434582 | M>I | A:440 | (-4.10, 38.40, 26.58) | |
| 4:111434595 | rs373034509 | V>I | A:445 | (-4.58, 44.88, 26.11) |
| 4:111434622 | rs370220462 | L>V | A:454 | (-9.87, 58.53, 30.25) |
| 4:111434623 | L>S | A:454 | (-9.87, 58.53, 30.25) | |
| 4:111434632 | rs199991890 | S>L | A:457 | (-7.28, 57.01, 35.07) |
| 4:111434635 | COSM3373356 | H>P | A:458 | (-5.85, 54.58, 38.44) |
| 4:111434638 | COSM1426384 | P>L | A:459 | (-1.99, 55.31, 38.87) |
| 4:111434640 | I>V | A:460 | (-0.81, 50.49, 38.45) | |
| 4:111434652 | V>M | A:464 | (-5.92, 54.06, 49.09) | |
| 4:111434661 | P>S | A:467 | (-12.88, 51.80, 52.86) | |
| 4:111434683 | rs138193515 | F>S | A:474 | (-10.56, 45.49, 43.63) |
| 4:111434685 | D>N | A:475 | (-9.83, 48.53, 38.42) | |
| 4:111436537 | S>Y | A:483 | (-1.97, 41.84, 32.39) | |
| 4:111436597 | Q>R | A:503 | (10.63, 30.87, 40.41) | |
| 4:111441165 | M>R | A:504 | (13.87, 34.40, 42.80) | |
| 4:111441167 | Y>D | A:505 | (7.97, 37.99, 44.52) | |
| 4:111441193 | N>K | A:513 | (3.70, 41.18, 52.77) | |
| 4:111441212 | W>G | A:520 | (9.57, 46.17, 39.38) | |
| 4:111441213 | W>L | A:520 | (9.57, 46.17, 39.38) | |
| 4:111441216 | A>E | A:521 | (14.51, 43.40, 42.27) | |
| 4:111441371 | rs143234247 | A>P | A:526 | (16.98, 37.66, 36.33) |
| 4:111441378 | R>M | A:528 | (21.64, 41.11, 34.31) | |
| 4:111441387 | V>A | A:531 | (13.19, 46.36, 35.69) | |
| 4:111441407 | W>R | A:538 | (4.74, 51.66, 31.15) | |
| 4:111441409 | W>C | A:538 | (4.74, 51.66, 31.15) | |
| 4:111441411 | T>I | A:539 | (3.70, 51.80, 37.79) | |
| 4:111441426 | rs143212590 | Y>F | A:544 | (-1.77, 54.89, 26.56) |
| 4:111441428 | P>A | A:545 | (2.41, 55.96, 24.95) | |
| 4:111441434 | L>F | A:547 | (4.92, 55.68, 19.10) | |
| 4:111441440 | rs146261286 | V>M | A:549 | (5.96, 57.59, 12.58) |
| 4:111441446 | G>S | A:551 | (9.93, 58.41, 8.19) | |
| 4:111441453 | rs200733220 | K>T | A:553 | (13.63, 54.86, 10.31) |
| 4:111441470 | rs544907084 | R>C | A:559 | (-0.75, 61.59, 28.11) |
| 4:111441498 | P>L | A:568 | (-1.22, 66.84, 28.65) | |
| 4:111441515 | D>H | A:574 | (7.42, 63.14, 39.55) | |
| 4:111452383 | T>I | A:586 | (8.80, 43.30, 12.01) | |
| 4:111452398 | T>I | A:591 | (12.32, 40.79, 15.20) | |
| 4:111452413 | F>C | A:596 | (12.03, 55.57, 23.35) | |
| 4:111452432 | rs141720845 | E>D | A:602 | (14.58, 65.64, 20.05) |
| 4:111463909 | I>V | A:604 | (14.58, 56.92, 18.89) | |
| 4:111463917 | rs150543830 | L>F | A:606 | (13.85, 52.24, 14.66) |
| 4:111463920 | N>K | A:607 | (18.68, 50.52, 13.76) | |
| 4:111463964 | rs569341367 | D>G | A:622 | (1.29, 40.52, 18.20) |
| 4:111463967 | rs200838648 | H>R | A:623 | (-0.77, 45.92, 20.75) |
| 4:111463969 | I>V | A:624 | (3.61, 42.94, 22.99) | |
| 4:111463979 | Y>C | A:627 | (3.26, 50.82, 22.16) | |
| 4:111463981 | rs149676891 | R>C | A:628 | (-2.62, 53.12, 20.79) |
| 4:111463991 | COSM1291807 | Y>C | A:631 | (2.20, 53.60, 11.39) |
| 4:111464012 | COSM1426386 | S>L | A:638 | (-0.47, 51.67, 2.05) |
| 4:111464042 | K>R | A:648 | (-3.70, 36.45, 5.51) | |
| 4:111464181 | S>L | A:652 | (-4.68, 38.05, 13.06) | |
| 4:111464189 | rs139405480 | R>C | A:655 | (-5.38, 41.30, 10.60) |
| 4:111464205 | D>G | A:660 | (-7.73, 49.29, 18.13) | |
| 4:111464211 | rs200157627 | A>D | A:662 | (-6.95, 53.82, 13.98) |
| 4:111464216 | A>S | A:664 | (-8.40, 55.48, 18.70) | |
| 4:111464222 | A>T | A:666 | (-9.83, 58.99, 15.30) | |
| 4:111464225 | R>G | A:667 | (-12.72, 57.70, 20.34) | |
| 4:111469354 | V>L | A:675 | (-7.52, 56.87, 7.26) | |
| 4:111469357 | rs141772249 | A>T | A:676 | (-9.82, 54.46, 9.55) |
| 4:111469358 | A>D | A:676 | (-9.82, 54.46, 9.55) | |
| 4:111469392 | COSM170230 | E>D | A:687 | (-12.05, 34.18, 7.35) |
| 4:111469395 | N>K | A:688 | (-9.45, 35.67, 11.55) | |
| 4:111469430 | T>N | A:700 | (-20.43, 49.40, 18.68) | |
| 4:111469435 | I>L | A:702 | (-19.23, 54.78, 15.38) | |
| 4:111469445 | M>T | A:705 | (-22.61, 58.04, 19.23) | |
| 4:111469449 | F>L | A:706 | (-24.01, 58.62, 14.48) | |
| 4:111469450 | E>Q | A:707 | (-28.61, 54.88, 18.09) | |
| 4:111469457 | D>G | A:709 | (-28.49, 60.42, 12.64) | |
| 4:111469469 | Y>C | A:713 | (-28.05, 53.52, 12.13) | |
| 4:111469478 | I>T | A:716 | (-23.18, 53.17, 9.43) | |
| 4:111470505 | Y>H | A:719 | (-19.76, 49.42, 4.95) | |
| 4:111470509 | F>S | A:720 | (-20.04, 48.13, 8.89) | |
| 4:111470532 | A>T | A:728 | (-22.13, 34.98, 8.51) | |
| 4:111470533 | A>G | A:728 | (-22.13, 34.98, 8.51) | |
| 4:111470539 | rs367777066 | S>F | A:730 | (-19.62, 30.82, 5.91) |
| 4:111470544 | COSM3916968 | G>R | A:732 | (-23.83, 29.84, 10.23) |
| 4:111470552 | N>K | A:734 | (-24.10, 25.54, 12.50) | |
| 4:111470556 | A>P | A:736 | (-19.30, 24.10, 13.73) | |
| 4:111470565 | H>D | A:739 | (-13.22, 27.70, 21.40) | |
| 4:111470689 | COSM1694831 | L>H | A:744 | (-16.11, 34.21, 14.76) |
| 4:111470691 | R>C | A:745 | (-20.41, 30.60, 14.29) | |
| 4:111470692 | COSM1050059 | R>H | A:745 | (-20.41, 30.60, 14.29) |
| 4:111470736 | rs138819789 | A>P | A:760 | (-30.20, 36.88, 10.76) |
| 4:111470737 | A>D | A:760 | (-30.20, 36.88, 10.76) | |
| 4:111470784 | rs140475203 | V>L | A:776 | (-36.00, 22.52, 20.42) |
| 4:111470876 | P>S | A:779 | (-27.85, 25.61, 19.20) | |
| 4:111470877 | COSM3599147 | P>L | A:779 | (-27.85, 25.61, 19.20) |
| 4:111470879 | V>I | A:780 | (-24.88, 26.04, 22.81) | |
| 4:111470890 | COSM3916969 | R>S | A:783 | (-29.02, 28.49, 23.96) |
| 4:111470903 | R>W | A:788 | (-29.92, 39.52, 22.45) | |
| 4:111470904 | rs138109608 | R>L | A:788 | (-29.92, 39.52, 22.45) |
| 4:111470913 | M>T | A:791 | (-37.86, 38.58, 22.94) | |
| 4:111470919 | N>S | A:793 | (-37.50, 40.82, 16.35) | |
| 4:111470920 | N>K | A:793 | (-37.50, 40.82, 16.35) | |
| 4:111470946 | Y>C | A:802 | (-41.93, 29.78, 28.08) | |
| 4:111470951 | L>I | A:804 | (-40.07, 34.64, 33.80) | |
| 4:111470956 | E>D | A:805 | (-42.39, 30.06, 33.51) | |
| 4:111470989 | K>N | A:816 | (-30.92, 31.31, 35.28) | |
| 4:111470994 | K>T | A:818 | (-28.05, 33.03, 28.32) | |
| 4:111471003 | rs530693685 | Y>C | A:821 | (-29.07, 40.19, 27.32) |
| 4:111471005 | rs373396405 | G>R | A:822 | (-34.01, 38.34, 26.82) |
| 4:111471014 | S>T | A:825 | (-34.67, 42.23, 24.63) | |
| 4:111471038 | S>P | A:833 | (-41.90, 47.96, 34.24) | |
| 4:111471039 | S>L | A:833 | (-41.90, 47.96, 34.24) | |
| 4:111474475 | L>M | A:836 | (-37.34, 47.38, 36.46) | |
| 4:111474490 | D>N | A:841 | (-38.76, 39.71, 44.24) | |
| 4:111474494 | rs200338472 COSM3006502 |
T>M | A:842 | (-35.51, 38.31, 46.78) |
| 4:111474502 | rs376347849 | I>V | A:845 | (-34.02, 38.73, 40.78) |
| 4:111474504 | I>M | A:845 | (-34.02, 38.73, 40.78) | |
| 4:111474512 | Q>R | A:848 | (-25.93, 37.37, 42.22) | |
| 4:111474529 | I>V | A:854 | (-29.96, 47.45, 35.83) | |
| 4:111474536 | Y>C | A:856 | (-28.28, 42.36, 30.56) | |
| 4:111474538 | I>V | A:857 | (-32.88, 46.89, 31.02) | |
| 4:111474544 | Y>H | A:859 | (-27.09, 47.09, 27.21) | |
| 4:111474552 | rs35812243 | S>R | A:861 | (-33.77, 51.11, 22.73) |
| 4:111474578 | W>L | A:870 | (-35.10, 51.28, 39.15) | |
| 4:111474590 | N>T | A:874 | (-35.15, 53.34, 43.15) | |
| 4:111474596 | rs533760687 | D>V | A:876 | (-32.31, 56.21, 48.71) |
| 4:111474611 | rs141205275 | R>K | A:881 | (-30.62, 45.51, 48.35) |
| 4:111480805 | Y>C | A:882 | (-26.73, 46.34, 47.20) | |
| 4:111480811 | L>P | A:884 | (-22.11, 53.92, 49.44) | |
| 4:111480820 | rs377658225 COSM1050061 COSM32737 |
R>K | A:887 | (-16.65, 46.77, 43.85) |
| 4:111480832 | COSM1050062 | R>Q | A:891 | (-18.04, 49.75, 39.05) |
| 4:111480849 | E>K | A:897 | (-20.63, 54.65, 29.00) | |
| 4:111480851 | E>D | A:897 | (-20.63, 54.65, 29.00) | |
| 4:111480859 | rs562089438 | N>S | A:900 | (-24.65, 61.77, 22.93) |
| 4:111480862 | T>N | A:901 | (-26.63, 65.06, 24.84) | |
| 4:111480868 | L>P | A:903 | (-30.32, 67.02, 28.12) | |
| 4:111482596 | rs371337822 | G>E | A:919 | (-18.27, 56.25, 47.26) |
| 4:111482608 | rs188236443 | K>I | A:923 | (-12.96, 57.27, 39.87) |
| 4:111482613 | rs147367863 | R>G | A:925 | (-20.60, 59.57, 40.23) |
| 4:111482623 | V>G | A:928 | (-19.46, 58.53, 33.00) | |
| 4:111482625 | L>V | A:929 | (-19.03, 62.83, 33.78) | |
| 4:111482628 | E>K | A:930 | (-13.93, 61.99, 30.73) | |
| 4:111482638 | K>R | A:933 | (-17.89, 65.75, 29.10) | |
| 4:111482644 | N>S | A:935 | (-19.51, 61.16, 23.55) | |
| 4:111482648 | I>M | A:936 | (-20.89, 66.05, 23.49) | |
| 4:111482649 | E>K | A:937 | (-16.18, 67.42, 21.25) | |
| 4:111482669 | rs139469362 | R>S | A:943 | (-22.91, 64.41, 11.38) |
| 4:111482674 | T>I | A:945 | (-15.99, 63.43, 8.29) | |
| 4:111482687 | rs201213870 | W>C | A:949 | (-16.01, 56.44, 4.23) |
| 4:111482692 | rs144996738 | F>S | A:951 | (-23.44, 60.34, 0.27) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:111397817 | COSM1694823 | D>N | A:83 | (-12.70, 60.37, 71.81) |
| 4:111397845 | COSM3599125 | R>Q | A:92 | (-2.78, 52.26, 57.80) |
| 4:111397859 | COSM1485605 | V>I | A:97 | (-0.01, 45.91, 67.14) |
| 4:111397949 | COSM1050048 | A>T | A:127 | (4.46, 50.11, 72.50) |
| 4:111398043 | COSM3408992 | R>Q | A:158 | (-11.56, 52.93, 82.73) |
| 4:111398053 | COSM3824954 | F>L | A:161 | (-14.02, 53.04, 72.69) |
| 4:111409837 | COSM1050050 | A>V | A:262 | (-9.26, 17.91, 62.73) |
| 4:111412268 | COSM3365464 | F>C | A:289 | (-16.28, 30.66, 57.87) |
| 4:111431408 | COSM3006462 | G>E | A:401 | (-1.62, 36.58, 47.39) |
| 4:111431424 | COSM1694826 | M>I | A:406 | (-0.74, 43.11, 49.00) |
| 4:111431477 | COSM1753489 | F>Y | A:424 | (-4.79, 34.43, 29.63) |
| 4:111434637 | COSM1426383 | P>T | A:459 | (-1.99, 55.31, 38.87) |
| 4:111441420 | COSM1618273 | M>T | A:542 | (-2.28, 58.12, 34.53) |
| 4:111463981 | COSM280805 | R>C | A:628 | (-2.62, 53.12, 20.79) |
| 4:111463982 | COSM1618274 | R>L | A:628 | (-2.62, 53.12, 20.79) |
| 4:111464189 | COSM1538804 | R>S | A:655 | (-5.38, 41.30, 10.60) |
| 4:111464226 | COSM2152646 | R>I | A:667 | (-12.72, 57.70, 20.34) |
| 4:111469471 | COSM1694829 | P>S | A:714 | (-29.04, 54.11, 7.71) |
| 4:111470695 | COSM3599145 | S>F | A:746 | (-21.30, 34.21, 18.09) |
| 4:111470731 | COSM1753490 | R>I | A:758 | (-34.32, 42.07, 6.01) |
| 4:111470932 | COSM731973 | E>D | A:797 | (-47.66, 39.17, 27.95) |
| 4:111470973 | COSM3599150 | S>L | A:811 | (-30.66, 24.75, 37.56) |
| 4:111474533 | COSM136429 | R>Q | A:855 | (-25.08, 47.24, 33.17) |
| 4:111474551 | COSM1753491 | S>T | A:861 | (-33.77, 51.11, 22.73) |
| 4:111482614 | COSM1718739 | R>K | A:925 | (-20.60, 59.57, 40.23) |