General Structure Information
| PDB ID | 3l4v |
| HGNC Gene Label(s) | MGAM |
| Structure Name | crystal complex of n-terminal human maltase-glucoamylase with kotalanol |
| Resolution | 2.1Å |
| Reference | AUTH L.SIM,K.JAYAKANTHAN,S.MOHAN,R.NASI,B.D.JOHNSTON,AUTH 2 B.M.PINTO,D.R.ROSETITL NEW GLUCOSIDASE INHIBITORS FROM AN AYURVEDIC HERBALTITL 2 TREATMENT FOR TYPE 2 DIABETES: STRUCTURES ANDTITL 3 INHIBITION OF HUMAN INTESTINAL MALTASE-GLUCOAMYLASETITL 4 WITH COMPOUNDS FROM SALACIA RETICULATA.REF BIOCHEMISTRY V. 49 443 2010REFN ISSN 0006-2960PMID 20039683DOI 10.1021/BI9016457 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 861 |
| Number Of SNVs | 256 |
| Number Of Permutations | 85205 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.046 |
| p-value | 0.512 |
COSMIC
| Number Of Residues | 861 |
| Number Of SNVs | 27 |
| Number Of Permutations | 34382 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.066 |
| p-value | 0.55 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 256 |
| Number Of COSMIC SNVs | 24 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | -0.015 |
| p-value | 0.625 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:141708468 | E>V | A:11 | (58.89, 78.18, -3.75) | |
| 7:141708471 | COSM227521 COSM227522 COSM1086375 COSM227523 |
R>Q | A:12 | (55.76, 72.86, -1.73) |
| 7:141708490 | D>E | A:18 | (42.04, 73.08, 7.02) | |
| 7:141708495 | P>L | A:20 | (45.23, 66.85, 8.50) | |
| 7:141718999 | A>S | A:24 | (41.29, 63.41, -1.20) | |
| 7:141719003 | T>I | A:25 | (41.21, 67.04, 0.35) | |
| 7:141719014 | R>C | A:29 | (40.77, 71.61, -1.50) | |
| 7:141719020 | C>R | A:31 | (45.62, 70.98, -5.53) | |
| 7:141719021 | C>Y | A:31 | (45.62, 70.98, -5.53) | |
| 7:141719026 | W>R | A:33 | (49.55, 64.64, -2.24) | |
| 7:141719044 | V>L | A:39 | (59.22, 69.42, 8.85) | |
| 7:141719050 | V>I | A:41 | (56.84, 70.95, 3.66) | |
| 7:141719051 | V>A | A:41 | (56.84, 70.95, 3.66) | |
| 7:141719056 | W>R | A:43 | (52.34, 65.75, 2.90) | |
| 7:141719072 | rs370701658 | K>R | A:48 | (52.70, 77.02, -12.11) |
| 7:141719075 | N>S | A:49 | (48.30, 77.90, -13.58) | |
| 7:141719078 | rs114936410 | H>R | A:50 | (44.22, 78.28, -9.76) |
| 7:141719095 | rs368074859 | G>S | A:56 | (42.37, 92.46, -20.85) |
| 7:141719116 | A>T | A:63 | (46.59, 107.47, -9.90) | |
| 7:141719117 | A>V | A:63 | (46.59, 107.47, -9.90) | |
| 7:141719119 | G>R | A:64 | (47.24, 104.81, -12.38) | |
| 7:141720785 | rs191137461 | R>W | A:68 | (37.73, 94.42, -15.56) |
| 7:141720786 | rs200453166 | R>Q | A:68 | (37.73, 94.42, -15.56) |
| 7:141720810 | P>R | A:76 | (34.16, 75.55, -3.70) | |
| 7:141720813 | V>A | A:77 | (37.68, 75.68, -0.64) | |
| 7:141720821 | S>G | A:80 | (33.06, 80.76, -4.03) | |
| 7:141720827 | V>I | A:82 | (34.62, 86.63, -6.30) | |
| 7:141720832 | D>E | A:83 | (32.99, 85.68, -10.41) | |
| 7:141720834 | N>S | A:84 | (34.64, 89.65, -11.63) | |
| 7:141720843 | L>P | A:87 | (43.69, 95.91, -9.52) | |
| 7:141720851 | E>Q | A:90 | (46.40, 104.46, -5.86) | |
| 7:141720858 | Q>R | A:92 | (49.61, 107.32, -3.05) | |
| 7:141720866 | rs201586821 | N>D | A:95 | (58.76, 106.40, -1.51) |
| 7:141720869 | rs146995745 | R>C | A:96 | (52.60, 106.06, -0.28) |
| 7:141720870 | R>H | A:96 | (52.60, 106.06, -0.28) | |
| 7:141720876 | H>L | A:98 | (47.09, 101.78, -2.51) | |
| 7:141721392 | rs577101147 | D>N | A:103 | (33.57, 92.38, -5.60) |
| 7:141721402 | N>T | A:106 | (29.48, 93.28, -4.61) | |
| 7:141721431 | rs368879552 COSM3878820 COSM3878819 COSM3878818 COSM3878817 |
V>M | A:116 | (43.78, 106.84, 6.03) |
| 7:141721443 | S>R | A:120 | (43.03, 112.41, -4.75) | |
| 7:141721446 | G>R | A:121 | (45.09, 112.52, -7.87) | |
| 7:141721482 | I>L | A:133 | (50.78, 93.40, -13.88) | |
| 7:141721483 | I>T | A:133 | (50.78, 93.40, -13.88) | |
| 7:141721488 | R>G | A:135 | (47.40, 89.95, -18.50) | |
| 7:141721501 | S>T | A:139 | (50.97, 88.74, -10.94) | |
| 7:141721519 | rs183067128 | R>I | A:145 | (63.57, 103.48, -10.99) |
| 7:141721530 | COSM2861835 COSM2861834 COSM2861833 COSM2861832 |
R>C | A:149 | (66.72, 94.00, -5.07) |
| 7:141721531 | R>H | A:149 | (66.72, 94.00, -5.07) | |
| 7:141721534 | V>A | A:150 | (62.08, 91.92, -6.56) | |
| 7:141722069 | F>L | A:152 | (54.78, 92.49, -3.27) | |
| 7:141722073 | D>G | A:153 | (56.40, 88.54, -6.44) | |
| 7:141722076 | COSM3634432 COSM3634431 COSM3634430 COSM3634429 |
S>L | A:154 | (52.26, 87.56, -6.16) |
| 7:141722094 | COSM1448689 COSM1448688 COSM1448687 COSM1448686 |
L>P | A:160 | (42.70, 83.10, -2.96) |
| 7:141722104 | D>E | A:163 | (32.69, 86.43, 1.64) | |
| 7:141722107 | Q>H | A:164 | (34.02, 84.01, 4.92) | |
| 7:141722121 | S>F | A:169 | (51.49, 85.71, -1.48) | |
| 7:141722127 | R>Q | A:171 | (58.50, 85.45, -4.49) | |
| 7:141722137 | S>R | A:174 | (65.40, 89.12, 2.65) | |
| 7:141722166 | V>A | A:184 | (55.74, 86.73, 22.11) | |
| 7:141722180 | COSM3634436 COSM3634435 COSM3634434 COSM3634433 |
R>W | A:189 | (66.22, 87.73, 12.05) |
| 7:141722186 | D>Y | A:191 | (63.06, 82.46, 11.19) | |
| 7:141722198 | K>E | A:195 | (55.70, 80.35, 12.28) | |
| 7:141722204 | W>R | A:197 | (53.28, 84.42, 14.24) | |
| 7:141722208 | P>L | A:198 | (47.82, 84.38, 14.87) | |
| 7:141722235 | N>S | A:207 | (52.93, 82.89, 26.33) | |
| 7:141724850 | N>H | A:209 | (52.42, 79.21, 23.38) | |
| 7:141724854 | rs571907096 | G>E | A:210 | (52.29, 82.24, 19.82) |
| 7:141724881 | rs373438553 | F>C | A:219 | (54.69, 97.31, 9.30) |
| 7:141724904 | S>G | A:227 | (72.83, 99.43, 1.61) | |
| 7:141724919 | G>R | A:232 | (57.29, 97.86, 3.37) | |
| 7:141724925 | F>L | A:234 | (49.45, 98.18, 6.24) | |
| 7:141724932 | M>K | A:236 | (43.94, 98.56, 5.86) | |
| 7:141724935 | rs527339185 | N>S | A:237 | (42.08, 93.64, 7.00) |
| 7:141724938 | S>N | A:238 | (39.83, 94.27, 10.57) | |
| 7:141724940 | COSM3878824 COSM3878823 COSM3878822 COSM3878821 |
N>H | A:239 | (38.84, 90.76, 9.22) |
| 7:141724946 | rs548853167 | M>V | A:241 | (44.53, 87.90, 9.91) |
| 7:141726933 | COSM1086409 COSM1086408 COSM1086406 |
A>V | A:248 | (61.74, 81.07, -0.05) |
| 7:141726944 | T>S | A:252 | (50.99, 84.39, 3.16) | |
| 7:141726951 | R>H | A:254 | (45.83, 82.43, 5.47) | |
| 7:141726962 | G>S | A:258 | (37.03, 91.94, 3.29) | |
| 7:141726965 | I>V | A:259 | (39.31, 94.36, 1.09) | |
| 7:141726978 | Y>C | A:263 | (48.97, 100.93, 1.67) | |
| 7:141727018 | E>D | A:276 | (57.17, 106.61, 4.15) | |
| 7:141727020 | Y>C | A:277 | (53.26, 102.45, 8.78) | |
| 7:141727419 | COSM1215021 COSM1215020 COSM1215019 |
R>W | A:283 | (53.29, 111.29, 12.07) |
| 7:141727420 | rs368035457 COSM3634455 COSM3634454 COSM3634453 |
R>Q | A:283 | (53.29, 111.29, 12.07) |
| 7:141727425 | A>T | A:285 | (51.69, 111.38, 20.10) | |
| 7:141727443 | A>T | A:291 | (54.93, 110.25, 30.92) | |
| 7:141727444 | rs189324698 | A>V | A:291 | (54.93, 110.25, 30.92) |
| 7:141727449 | rs558293494 | G>R | A:293 | (58.48, 108.80, 33.90) |
| 7:141727450 | rs191269779 | G>E | A:293 | (58.48, 108.80, 33.90) |
| 7:141727455 | H>Y | A:295 | (54.71, 105.37, 35.30) | |
| 7:141727456 | H>R | A:295 | (54.71, 105.37, 35.30) | |
| 7:141727465 | rs537674844 COSM1131690 COSM1131689 COSM1131687 |
R>H | A:298 | (49.60, 95.90, 43.34) |
| 7:141727470 | rs373200528 | E>K | A:300 | (43.96, 94.58, 44.81) |
| 7:141727480 | T>N | A:303 | (43.31, 99.96, 50.90) | |
| 7:141727485 | rs184092742 | D>N | A:305 | (45.60, 103.08, 54.18) |
| 7:141727487 | D>E | A:305 | (45.60, 103.08, 54.18) | |
| 7:141727488 | N>D | A:306 | (47.68, 99.56, 51.64) | |
| 7:141727489 | rs200834950 | N>S | A:306 | (47.68, 99.56, 51.64) |
| 7:141727492 | M>T | A:307 | (47.89, 103.31, 47.36) | |
| 7:141727497 | rs371920898 | E>K | A:309 | (52.29, 101.78, 53.10) |
| 7:141727503 | rs377442966 | V>M | A:311 | (53.48, 106.38, 47.72) |
| 7:141727516 | COSM1257668 COSM1257667 COSM1257666 |
R>H | A:315 | (57.72, 110.75, 48.49) |
| 7:141727518 | rs371373847 COSM2861926 COSM2861925 COSM2861924 |
A>T | A:316 | (61.50, 108.27, 51.29) |
| 7:141727519 | rs374307676 | A>G | A:316 | (61.50, 108.27, 51.29) |
| 7:141727525 | Q>P | A:318 | (64.44, 110.46, 47.58) | |
| 7:141727526 | rs2272330 | Q>H | A:318 | (64.44, 110.46, 47.58) |
| 7:141727528 | L>P | A:319 | (62.29, 106.68, 43.53) | |
| 7:141727533 | Y>N | A:321 | (56.88, 107.95, 42.30) | |
| 7:141730191 | M>I | A:331 | (36.51, 100.85, 41.20) | |
| 7:141730195 | rs567166329 | E>K | A:333 | (31.74, 96.48, 44.25) |
| 7:141730202 | rs374898168 | R>K | A:335 | (30.39, 99.85, 40.00) |
| 7:141730205 | COSM269579 COSM269580 |
D>G | A:336 | (33.60, 102.31, 35.50) |
| 7:141730208 | F>S | A:337 | (33.03, 106.27, 35.67) | |
| 7:141730216 | D>N | A:340 | (35.41, 102.09, 48.12) | |
| 7:141730219 | S>P | A:341 | (33.37, 104.94, 50.55) | |
| 7:141730225 | D>N | A:343 | (38.37, 100.34, 51.41) | |
| 7:141730255 | E>Q | A:353 | (48.27, 114.21, 49.55) | |
| 7:141730264 | N>D | A:356 | (51.64, 119.31, 46.90) | |
| 7:141730265 | N>S | A:356 | (51.64, 119.31, 46.90) | |
| 7:141730273 | Q>K | A:359 | (53.42, 112.68, 42.23) | |
| 7:141730279 | rs142037158 | L>V | A:361 | (46.19, 109.81, 39.32) |
| 7:141730289 | I>T | A:364 | (41.71, 101.55, 35.35) | |
| 7:141730441 | D>N | A:366 | (37.28, 99.00, 32.42) | |
| 7:141730450 | I>V | A:369 | (29.10, 99.54, 31.84) | |
| 7:141730458 | N>K | A:371 | (23.26, 95.54, 33.74) | |
| 7:141730462 | S>T | A:373 | (20.09, 99.78, 37.64) | |
| 7:141730471 | rs76276410 | S>G | A:376 | (16.31, 101.96, 44.42) |
| 7:141730477 | P>T | A:378 | (21.01, 104.43, 41.32) | |
| 7:141730487 | P>L | A:381 | (27.01, 105.15, 34.18) | |
| 7:141730498 | rs377157038 | G>S | A:385 | (23.52, 105.04, 28.21) |
| 7:141730526 | S>N | A:394 | (22.65, 91.61, 19.65) | |
| 7:141730531 | D>N | A:396 | (18.23, 92.08, 17.32) | |
| 7:141730544 | P>L | A:400 | (21.45, 95.55, 24.46) | |
| 7:141731480 | V>F | A:405 | (33.60, 91.79, 33.12) | |
| 7:141731499 | V>A | A:411 | (26.63, 96.59, 28.74) | |
| 7:141731504 | COSM3634485 COSM3634484 COSM3634483 |
P>A | A:413 | (30.58, 100.58, 25.05) |
| 7:141731511 | Y>C | A:415 | (33.71, 103.23, 22.75) | |
| 7:141731514 | T>N | A:416 | (31.91, 103.21, 16.46) | |
| 7:141731523 | rs552591544 | N>S | A:419 | (26.27, 109.89, 20.70) |
| 7:141731528 | A>T | A:421 | (31.93, 110.12, 22.97) | |
| 7:141731546 | COSM3634491 COSM231135 COSM3634490 COSM231136 COSM3634489 |
E>K | A:427 | (30.39, 109.34, 32.54) |
| 7:141731550 | F>C | A:428 | (36.00, 110.25, 31.85) | |
| 7:141731565 | rs570887648 | N>S | A:433 | (34.03, 116.83, 39.27) |
| 7:141731585 | I>V | A:440 | (42.96, 107.65, 31.08) | |
| 7:141732627 | rs200532183 | D>E | A:443 | (42.12, 97.32, 30.32) |
| 7:141732644 | N>T | A:449 | (33.57, 88.50, 27.56) | |
| 7:141732653 | D>V | A:452 | (32.34, 82.47, 25.47) | |
| 7:141732659 | S>L | A:454 | (26.85, 86.06, 25.42) | |
| 7:141732665 | rs10266732 | S>L | A:456 | (23.22, 83.36, 25.40) |
| 7:141732680 | N>S | A:461 | (26.30, 81.76, 12.33) | |
| 7:141732698 | P>L | A:467 | (34.33, 78.63, 6.64) | |
| 7:141734070 | rs535382832 | D>N | A:474 | (40.74, 78.58, 22.45) |
| 7:141734076 | Y>N | A:476 | (35.59, 78.08, 18.92) | |
| 7:141734086 | C>Y | A:479 | (36.78, 83.08, 22.91) | |
| 7:141734094 | L>V | A:482 | (31.68, 90.30, 21.84) | |
| 7:141734095 | L>P | A:482 | (31.68, 90.30, 21.84) | |
| 7:141734098 | C>Y | A:483 | (29.05, 87.81, 19.40) | |
| 7:141734106 | A>T | A:486 | (27.47, 91.84, 16.94) | |
| 7:141734116 | H>P | A:489 | (27.82, 103.35, 13.41) | |
| 7:141734127 | Q>K | A:493 | (32.48, 92.13, 16.39) | |
| 7:141734136 | rs572766702 | I>V | A:496 | (34.48, 95.93, 13.86) |
| 7:141734160 | M>V | A:504 | (38.22, 102.91, 23.86) | |
| 7:141734164 | A>V | A:505 | (41.35, 105.63, 21.99) | |
| 7:141734175 | rs543667858 | A>T | A:509 | (40.96, 111.55, 23.13) |
| 7:141734477 | K>E | A:513 | (39.32, 117.36, 23.07) | |
| 7:141734493 | N>S | A:518 | (44.43, 122.95, 25.45) | |
| 7:141734495 | rs372853118 | K>E | A:519 | (46.65, 120.17, 28.40) |
| 7:141734502 | rs377214911 | S>N | A:521 | (47.11, 113.68, 29.09) |
| 7:141734513 | T>S | A:525 | (45.94, 101.06, 25.23) | |
| 7:141734516 | R>C | A:526 | (45.05, 95.29, 27.01) | |
| 7:141734517 | rs369813631 | R>H | A:526 | (45.05, 95.29, 27.01) |
| 7:141734520 | S>F | A:527 | (43.90, 97.07, 22.29) | |
| 7:141734528 | rs547400304 | A>T | A:530 | (46.85, 100.66, 12.97) |
| 7:141734545 | F>L | A:535 | (44.75, 108.56, 19.19) | |
| 7:141734553 | rs551921132 | H>R | A:538 | (50.89, 99.17, 24.47) |
| 7:141734574 | A>D | A:545 | (58.24, 86.71, 37.01) | |
| 7:141734576 | T>A | A:546 | (60.06, 84.96, 34.05) | |
| 7:141734585 | D>N | A:549 | (58.76, 87.26, 30.44) | |
| 7:141734587 | D>E | A:549 | (58.76, 87.26, 30.44) | |
| 7:141734593 | rs190777514 | R>S | A:551 | (65.20, 86.61, 28.09) |
| 7:141734595 | rs201436141 | W>S | A:552 | (59.98, 86.19, 25.89) |
| 7:141734600 | I>V | A:554 | (63.84, 93.92, 24.04) | |
| 7:141734604 | P>R | A:555 | (61.56, 92.13, 20.99) | |
| 7:141734609 | rs200523868 | V>M | A:557 | (59.71, 97.58, 22.79) |
| 7:141734617 | E>D | A:559 | (57.96, 94.60, 17.42) | |
| 7:141734639 | M>V | A:567 | (55.15, 105.56, 25.35) | |
| 7:141735981 | I>V | A:572 | (58.99, 96.63, 35.44) | |
| 7:141735985 | rs374280812 | C>Y | A:573 | (59.33, 92.86, 37.81) |
| 7:141736021 | rs370644495 COSM3950052 COSM3950051 COSM3950050 |
R>M | A:585 | (68.97, 93.46, 40.92) |
| 7:141736023 | R>W | A:586 | (70.06, 92.72, 36.46) | |
| 7:141736024 | R>Q | A:586 | (70.06, 92.72, 36.46) | |
| 7:141736048 | rs367841743 | Y>C | A:594 | (61.65, 99.26, 29.19) |
| 7:141736051 | P>L | A:595 | (60.16, 103.91, 26.37) | |
| 7:141736057 | S>F | A:597 | (58.73, 103.15, 32.99) | |
| 7:141736065 | H>N | A:600 | (51.54, 96.47, 37.27) | |
| 7:141736066 | H>R | A:600 | (51.54, 96.47, 37.27) | |
| 7:141736643 | rs74975727 | F>L | A:613 | (62.80, 94.74, 47.21) |
| 7:141736650 | D>H | A:616 | (69.58, 100.52, 52.85) | |
| 7:141736686 | N>D | A:628 | (68.59, 109.57, 38.75) | |
| 7:141736692 | COSM2862046 COSM2862045 COSM2862044 |
R>G | A:630 | (64.48, 107.51, 32.21) |
| 7:141736693 | rs202196208 | R>H | A:630 | (64.48, 107.51, 32.21) |
| 7:141736696 | Y>C | A:631 | (63.90, 111.22, 35.57) | |
| 7:141736705 | L>W | A:634 | (64.11, 112.95, 30.15) | |
| 7:141736713 | L>V | A:637 | (63.65, 110.36, 25.64) | |
| 7:141736722 | L>V | A:640 | (64.10, 110.86, 20.50) | |
| 7:141736731 | COSM3411679 COSM3411678 COSM3411677 |
R>C | A:643 | (62.81, 114.74, 15.17) |
| 7:141736732 | rs116034282 | R>H | A:643 | (62.81, 114.74, 15.17) |
| 7:141736734 | A>S | A:644 | (58.31, 110.60, 16.23) | |
| 7:141736749 | D>N | A:649 | (62.01, 109.00, 13.81) | |
| 7:141736753 | T>M | A:650 | (62.39, 105.03, 16.04) | |
| 7:141736758 | A>T | A:652 | (63.28, 102.33, 20.55) | |
| 7:141736775 | H>Q | A:657 | (67.03, 100.58, 12.20) | |
| 7:141738336 | Y>C | A:660 | (72.47, 100.13, 7.65) | |
| 7:141738339 | E>G | A:661 | (76.78, 99.22, 6.35) | |
| 7:141738356 | D>N | A:667 | (70.26, 88.71, 14.83) | |
| 7:141738362 | rs113689539 | H>Y | A:669 | (67.17, 89.88, 20.51) |
| 7:141738369 | Q>P | A:671 | (72.02, 94.91, 22.58) | |
| 7:141738370 | rs201786618 | Q>H | A:671 | (72.02, 94.91, 22.58) |
| 7:141738386 | rs376805556 | G>S | A:677 | (73.52, 107.10, 20.75) |
| 7:141738405 | V>D | A:683 | (72.20, 91.32, 32.48) | |
| 7:141739916 | G>D | A:687 | (73.77, 84.79, 37.59) | |
| 7:141739918 | A>T | A:688 | (74.92, 86.94, 35.50) | |
| 7:141739919 | A>E | A:688 | (74.92, 86.94, 35.50) | |
| 7:141739921 | E>Q | A:689 | (78.33, 89.05, 37.50) | |
| 7:141739925 | K>T | A:690 | (79.83, 87.99, 32.50) | |
| 7:141739948 | A>T | A:698 | (81.77, 102.91, 16.54) | |
| 7:141739957 | Y>N | A:701 | (83.05, 107.52, 24.30) | |
| 7:141739967 | E>A | A:704 | (78.52, 105.32, 34.57) | |
| 7:141740523 | rs538201085 | G>E | A:706 | (83.85, 108.21, 29.72) |
| 7:141740526 | S>N | A:707 | (85.94, 105.53, 28.97) | |
| 7:141740537 | W>R | A:711 | (85.20, 96.50, 23.88) | |
| 7:141740543 | K>E | A:713 | (82.95, 95.72, 13.37) | |
| 7:141740562 | rs374820212 | E>G | A:719 | (82.41, 93.46, 34.22) |
| 7:141740580 | rs187975007 | I>T | A:725 | (72.93, 98.45, 32.72) |
| 7:141740604 | Y>C | A:733 | (75.91, 111.18, 17.68) | |
| 7:141740616 | T>K | A:737 | (71.45, 116.95, 30.09) | |
| 7:141740621 | rs148440972 | Q>K | A:739 | (70.69, 118.98, 37.37) |
| 7:141740631 | T>K | A:742 | (62.11, 113.04, 42.53) | |
| 7:141740633 | T>S | A:743 | (59.63, 115.23, 40.06) | |
| 7:141740636 | T>P | A:744 | (59.37, 115.99, 35.79) | |
| 7:141740642 | A>P | A:746 | (61.28, 119.85, 39.33) | |
| 7:141740643 | A>D | A:746 | (61.28, 119.85, 39.33) | |
| 7:141740646 | S>N | A:747 | (63.47, 118.38, 36.65) | |
| 7:141747587 | COSM599597 COSM599596 COSM599595 |
R>Q | A:748 | (60.65, 120.88, 32.70) |
| 7:141747595 | rs368897231 | P>A | A:751 | (70.36, 123.06, 35.76) |
| 7:141747601 | rs556685550 | G>S | A:753 | (73.54, 119.91, 29.68) |
| 7:141747602 | G>V | A:753 | (73.54, 119.91, 29.68) | |
| 7:141747613 | A>T | A:757 | (80.76, 112.35, 21.89) | |
| 7:141747617 | L>P | A:758 | (84.31, 113.61, 20.28) | |
| 7:141747631 | E>K | A:763 | (83.62, 116.29, 14.08) | |
| 7:141747632 | rs201270012 | E>G | A:763 | (83.62, 116.29, 14.08) |
| 7:141747634 | A>T | A:764 | (79.74, 116.34, 17.01) | |
| 7:141747646 | L>F | A:768 | (67.12, 120.53, 22.63) | |
| 7:141747652 | W>R | A:770 | (62.39, 122.49, 26.63) | |
| 7:141747653 | W>L | A:770 | (62.39, 122.49, 26.63) | |
| 7:141747655 | COSM3634564 COSM3634563 COSM3634562 |
D>N | A:771 | (57.72, 122.18, 24.89) |
| 7:141747658 | rs2960746 | N>D | A:772 | (54.76, 123.43, 27.69) |
| 7:141747664 | E>K | A:774 | (51.50, 120.45, 29.55) | |
| 7:141747673 | rs374784553 COSM3634567 COSM3634566 COSM3634565 |
D>N | A:777 | (49.07, 120.19, 18.85) |
| 7:141750038 | T>I | A:778 | (53.22, 122.51, 20.58) | |
| 7:141750047 | N>T | A:781 | (50.23, 125.28, 16.63) | |
| 7:141750066 | C>W | A:787 | (68.59, 123.56, 19.27) | |
| 7:141750076 | V>L | A:791 | (81.57, 119.90, 17.69) | |
| 7:141750500 | R>C | A:795 | (83.93, 126.51, 16.56) | |
| 7:141750513 | N>T | A:799 | (72.36, 127.00, 15.96) | |
| 7:141750522 | Q>R | A:802 | (61.55, 127.21, 15.76) | |
| 7:141750528 | T>N | A:804 | (58.22, 130.03, 19.20) | |
| 7:141750543 | rs200893409 | N>S | A:809 | (61.76, 128.61, 34.73) |
| 7:141750549 | L>S | A:811 | (66.36, 127.17, 31.72) | |
| 7:141750572 | COSM1215030 COSM3634579 COSM1215029 COSM3634578 COSM1215028 COSM3634577 |
L>I | A:819 | (83.65, 112.28, 25.97) |
| 7:141750575 | G>W | A:820 | (87.67, 112.27, 23.39) | |
| 7:141750579 | rs187898444 | T>M | A:821 | (89.23, 115.37, 24.44) |
| 7:141750588 | P>L | A:824 | (90.59, 121.61, 26.75) | |
| 7:141750602 | V>L | A:829 | (81.92, 132.07, 25.67) | |
| 7:141750613 | rs145430437 | N>K | A:832 | (74.96, 136.57, 19.08) |
| 7:141750615 | rs575790209 | G>D | A:833 | (79.87, 137.42, 18.99) |
| 7:141750638 | T>P | A:841 | (86.19, 125.97, 34.93) | |
| 7:141750639 | T>I | A:841 | (86.19, 125.97, 34.93) | |
| 7:141752094 | V>F | A:850 | (87.29, 113.59, 30.27) | |
| 7:141752097 | rs191173315 | A>T | A:851 | (86.46, 117.44, 29.67) |
| 7:141752113 | I>T | A:856 | (79.25, 127.85, 31.56) | |
| 7:141752127 | COSM3634594 COSM3634593 COSM3634592 |
G>R | A:861 | (67.74, 130.03, 23.10) |
| 7:141752139 | rs180749383 | T>A | A:865 | (80.55, 130.23, 19.97) |
| 7:141752145 | E>Q | A:867 | (86.14, 129.14, 20.64) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:141708471 | COSM227521 | R>Q | A:12 | (55.76, 72.86, -1.73) |
| 7:141719006 | COSM1548479 | C>Y | A:26 | (44.14, 67.64, -2.96) |
| 7:141719039 | COSM231133 | G>E | A:37 | (59.19, 66.48, 2.80) |
| 7:141719069 | COSM1548474 | S>F | A:47 | (48.84, 75.13, -8.97) |
| 7:141719073 | COSM1086389 | K>N | A:48 | (52.70, 77.02, -12.11) |
| 7:141721425 | COSM3634419 | E>K | A:114 | (41.00, 108.91, 12.11) |
| 7:141722180 | COSM3634434 | R>W | A:189 | (66.22, 87.73, 12.05) |
| 7:141722220 | COSM3634443 | R>K | A:202 | (42.10, 86.39, 23.39) |
| 7:141724853 | COSM1086399 | G>R | A:210 | (52.29, 82.24, 19.82) |
| 7:141724872 | COSM3778169 | A>V | A:216 | (46.37, 94.45, 15.26) |
| 7:141726975 | COSM1622449 | F>Y | A:262 | (48.15, 94.98, 0.33) |
| 7:141726990 | COSM3634452 | G>E | A:267 | (63.88, 103.08, 1.50) |
| 7:141727419 | COSM1215020 | R>W | A:283 | (53.29, 111.29, 12.07) |
| 7:141727437 | COSM599615 | Y>N | A:289 | (59.14, 115.95, 30.20) |
| 7:141730243 | COSM3634468 | E>K | A:349 | (41.44, 114.07, 50.64) |
| 7:141731519 | COSM3634487 | P>S | A:418 | (29.59, 109.45, 17.28) |
| 7:141731583 | COSM3634495 | G>E | A:439 | (44.91, 109.95, 33.45) |
| 7:141734145 | COSM1622454 | L>M | A:499 | (38.65, 98.38, 14.95) |
| 7:141734529 | COSM304506 | A>V | A:530 | (46.85, 100.66, 12.97) |
| 7:141734624 | COSM3634518 | L>F | A:562 | (58.36, 99.33, 13.75) |
| 7:141736632 | COSM2862043 | P>S | A:610 | (61.28, 99.71, 44.41) |
| 7:141739966 | COSM227049 | E>K | A:704 | (78.52, 105.32, 34.57) |
| 7:141740561 | COSM3634544 | E>K | A:719 | (82.41, 93.46, 34.22) |
| 7:141740634 | COSM3634552 | T>I | A:743 | (59.63, 115.23, 40.06) |
| 7:141747587 | COSM599595 | R>Q | A:748 | (60.65, 120.88, 32.70) |
| 7:141750572 | COSM3634579 | L>F | A:819 | (83.65, 112.28, 25.97) |
| 7:141752128 | COSM1086461 | G>E | A:861 | (67.74, 130.03, 23.10) |
| 7:141752137 | COSM1086463 | Y>C | A:864 | (75.68, 131.00, 23.46) |