General Structure Information
| PDB ID | 1n7d |
| HGNC Gene Label(s) | LDLR |
| Structure Name | extracellular domain of the ldl receptor |
| Resolution | 3.7Å |
| Reference | AUTH G.RUDENKO,L.HENRY,K.HENDERSON,K.ICHTCHENKO,M.S.BROWN,AUTH 2 J.L.GOLDSTEIN,J.DEISENHOFERTITL STRUCTURE OF THE LDL RECEPTOR EXTRACELLULAR DOMAIN ATTITL 2 ENDOSOMAL PHREF SCIENCE V. 298 2353 2002REFN ISSN 0036-8075PMID 12459547DOI 10.1126/SCIENCE.1078124 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 639 |
| Number Of SNVs | 200 |
| Number Of Permutations | 74535 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.017 |
| p-value | 0.271 |
ClinVar
| Number Of Residues | 639 |
| Number Of SNVs | 42 |
| Number Of Permutations | 28494 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.008 |
| p-value | 0.703 |
COSMIC
| Number Of Residues | 639 |
| Number Of SNVs | 11 |
| Number Of Permutations | 10541 |
| Optimal Distance Threshold | 52.0 |
| K Statistic | 0.418 |
| p-value | 0.245 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 200 |
| Number Of ClinVar SNVs | 41 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.041 |
| p-value | 0.455 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 200 |
| Number Of COSMIC SNVs | 11 |
| Optimal Distance Threshold | 52.0 |
| K Statistic | -0.239 |
| p-value | 0.335 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:11213360 | G>R | A:50 | (9.81, 51.98, -0.68) | |
| 19:11213361 | G>E | A:50 | (9.81, 51.98, -0.68) | |
| 19:11213363 | COSM3528459 CD962417 |
D>N | A:51 | (14.33, 51.20, -0.14) |
| 19:11213375 | rs574337291 COSM1726125 CM074326 |
G>R | A:55 | (16.19, 65.01, 7.49) |
| 19:11213390 | R>C | A:60 | (9.98, 59.34, 5.73) | |
| 19:11213408 | rs121908025 | W>G | A:66 | (18.24, 63.17, -6.14) |
| 19:11213417 | D>N | A:69 | (23.68, 61.70, -6.55) | |
| 19:11213418 | D>G | A:69 | (23.68, 61.70, -6.55) | |
| 19:11213423 | Q>E | A:71 | (24.02, 66.07, -4.78) | |
| 19:11213429 | D>N | A:73 | (19.96, 67.26, -2.61) | |
| 19:11213438 | N>D | A:76 | (20.60, 67.19, 6.76) | |
| 19:11213441 | G>S | A:77 | (22.11, 63.21, 6.26) | |
| 19:11213450 | rs144172724 | E>K | A:80 | (24.99, 63.88, -1.17) |
| 19:11213462 | rs13306510 | P>S | A:84 | (28.56, 55.79, 1.26) |
| 19:11215905 | T>M | A:87 | (30.25, 58.01, 9.85) | |
| 19:11215908 | rs121908042 CM983629 CM021116 CM942293 |
C>Y | A:88 | (30.39, 59.53, 13.41) |
| 19:11215914 | Q>R | A:90 | (29.02, 57.73, 19.14) | |
| 19:11215919 | E>K | A:92 | (28.09, 64.64, 17.93) | |
| 19:11215925 | COSM3891505 CM055402 |
R>C | A:94 | (30.35, 66.75, 12.24) |
| 19:11215926 | rs201102461 CM002336 |
R>H | A:94 | (30.35, 66.75, 12.24) |
| 19:11215934 | COSM990775 CM990791 |
D>Y | A:97 | (35.79, 65.93, 9.74) |
| 19:11215974 | D>G | A:110 | (39.10, 72.75, 24.69) | |
| 19:11215975 | D>E | A:110 | (39.10, 72.75, 24.69) | |
| 19:11215976 | rs368978979 | R>W | A:111 | (41.97, 73.09, 18.83) |
| 19:11215977 | R>Q | A:111 | (41.97, 73.09, 18.83) | |
| 19:11215991 | G>S | A:116 | (37.49, 75.40, 17.16) | |
| 19:11215992 | G>V | A:116 | (37.49, 75.40, 17.16) | |
| 19:11216016 | V>A | A:124 | (26.84, 84.09, 26.94) | |
| 19:11216033 | A>P | A:130 | (24.25, 92.32, 37.51) | |
| 19:11216064 | I>N | A:140 | (27.34, 88.56, 40.91) | |
| 19:11216084 | rs200727689 CM930474 CM960930 CM970879 |
D>N | A:147 | (33.10, 92.35, 48.56) |
| 19:11216086 | D>E | A:147 | (33.10, 92.35, 48.56) | |
| 19:11216090 | rs139089530 | D>N | A:149 | (32.73, 88.29, 51.18) |
| 19:11216091 | rs533896621 | D>G | A:149 | (32.73, 88.29, 51.18) |
| 19:11216112 | rs121908026 | S>L | A:156 | (34.88, 89.31, 41.04) |
| 19:11216124 | rs557344672 CM012620 |
P>R | A:160 | (42.72, 92.49, 41.40) |
| 19:11216127 | Q>R | A:161 | (40.63, 92.07, 37.50) | |
| 19:11216130 | R>H | A:162 | (40.18, 95.68, 37.53) | |
| 19:11216144 | Y>D | A:167 | (50.78, 99.04, 38.62) | |
| 19:11216147 | rs370820135 CM024117 |
V>L | A:168 | (54.15, 99.57, 41.14) |
| 19:11216169 | COSM3891506 | P>H | A:175 | (49.99, 93.42, 49.05) |
| 19:11216171 | C>R | A:176 | (45.92, 95.70, 50.09) | |
| 19:11216172 | rs376459828 COSM3821903 CM920418 CM920417 |
C>F | A:176 | (45.92, 95.70, 50.09) |
| 19:11216184 | E>G | A:180 | (42.01, 97.29, 54.87) | |
| 19:11216190 | H>R | A:182 | (50.00, 92.46, 56.04) | |
| 19:11216202 | G>D | A:186 | (48.45, 86.99, 57.42) | |
| 19:11216213 | H>Y | A:190 | (35.54, 93.60, 56.66) | |
| 19:11216221 | S>R | A:192 | (39.60, 98.15, 60.88) | |
| 19:11216225 | R>C | A:194 | (42.20, 97.05, 64.41) | |
| 19:11216226 | R>H | A:194 | (42.20, 97.05, 64.41) | |
| 19:11216238 | rs201384282 CD056820 CM981184 |
G>D | A:198 | (40.12, 90.82, 68.81) |
| 19:11216244 | rs373822756 CM094960 CM920420 |
D>G | A:200 | (41.93, 89.01, 64.00) |
| 19:11216246 | rs577934998 CM055385 CM995133 CX108058 |
C>R | A:201 | (46.01, 88.19, 63.04) |
| 19:11216247 | C>Y | A:201 | (46.01, 88.19, 63.04) | |
| 19:11216273 | C>G | A:210 | (47.85, 99.77, 69.23) | |
| 19:11216276 | rs72658857 | A>T | A:211 | (48.42, 101.51, 72.87) |
| 19:11217256 | rs148171426 | R>H | A:216 | (46.66, 116.65, 72.73) |
| 19:11217258 | rs376963526 | P>S | A:217 | (41.60, 118.12, 75.84) |
| 19:11217264 | COSM990777 CM920426 CM055368 |
E>K | A:219 | (39.09, 115.39, 72.58) |
| 19:11217268 | F>S | A:220 | (34.38, 112.25, 74.36) | |
| 19:11217282 | G>R | A:225 | (39.45, 105.55, 73.93) | |
| 19:11217297 | G>S | A:230 | (34.84, 118.00, 68.69) | |
| 19:11217302 | S>R | A:231 | (31.47, 118.80, 69.16) | |
| 19:11217303 | rs150673992 | R>W | A:232 | (32.77, 115.14, 64.78) |
| 19:11217304 | rs139507589 | R>Q | A:232 | (32.77, 115.14, 64.78) |
| 19:11217306 | Q>E | A:233 | (28.16, 116.91, 69.06) | |
| 19:11217315 | rs200990725 CM012394 |
R>W | A:236 | (21.43, 114.14, 67.54) |
| 19:11217316 | R>Q | A:236 | (21.43, 114.14, 67.54) | |
| 19:11217328 | rs121908040 | C>F | A:240 | (31.14, 106.87, 69.34) |
| 19:11217333 | D>N | A:242 | (28.68, 104.54, 71.57) | |
| 19:11217336 | M>L | A:243 | (25.08, 104.86, 72.14) | |
| 19:11217337 | M>T | A:243 | (25.08, 104.86, 72.14) | |
| 19:11217344 | rs139043155 | D>E | A:245 | (27.84, 111.96, 70.68) |
| 19:11217348 | V>I | A:247 | (24.86, 111.32, 75.89) | |
| 19:11217352 | rs143992984 | G>D | A:248 | (22.28, 113.58, 78.15) |
| 19:11217357 | V>I | A:250 | (18.65, 117.77, 78.22) | |
| 19:11218071 | T>K | A:253 | (14.28, 117.72, 86.22) | |
| 19:11218079 | rs148698650 | E>K | A:256 | (10.87, 113.35, 89.40) |
| 19:11218081 | E>D | A:256 | (10.87, 113.35, 89.40) | |
| 19:11218096 | F>L | A:261 | (1.96, 117.77, 92.17) | |
| 19:11218103 | H>Y | A:264 | (-1.86, 122.67, 87.62) | |
| 19:11218109 | rs375495026 CM067690 |
G>S | A:266 | (4.40, 125.59, 89.02) |
| 19:11218112 | rs368657165 COSM2813899 CM990797 CM990796 |
E>K | A:267 | (7.05, 124.39, 90.65) |
| 19:11218121 | T>P | A:270 | (6.10, 116.94, 97.96) | |
| 19:11218142 | M>V | A:277 | (-4.84, 122.81, 106.27) | |
| 19:11218148 | R>G | A:279 | (-1.06, 129.30, 98.26) | |
| 19:11218157 | rs151207122 | R>W | A:282 | (0.15, 129.54, 93.43) |
| 19:11218158 | COSM3821905 | R>Q | A:282 | (0.15, 129.54, 93.43) |
| 19:11218160 | rs121908030 | D>N | A:283 | (-2.79, 127.12, 92.12) |
| 19:11218163 | W>G | A:284 | (-5.78, 125.53, 94.05) | |
| 19:11218178 | I>F | A:289 | (-12.78, 119.97, 97.06) | |
| 19:11221333 | N>H | A:295 | (-9.40, 106.05, 100.50) | |
| 19:11221334 | N>S | A:295 | (-9.40, 106.05, 100.50) | |
| 19:11221336 | E>K | A:296 | (-11.81, 107.35, 97.33) | |
| 19:11221354 | rs373869746 CM984576 |
G>S | A:302 | (-16.05, 99.32, 90.29) |
| 19:11221357 | rs72658860 | G>S | A:303 | (-15.02, 101.98, 89.20) |
| 19:11221366 | H>Y | A:306 | (-10.99, 92.66, 90.34) | |
| 19:11221369 | V>I | A:307 | (-6.90, 95.11, 93.57) | |
| 19:11221375 | N>H | A:309 | (-3.57, 100.95, 96.96) | |
| 19:11221393 | Y>H | A:315 | (-9.08, 109.02, 93.57) | |
| 19:11221396 | rs539080792 | E>K | A:316 | (-4.76, 104.09, 91.70) |
| 19:11221406 | C>F | A:319 | (-4.40, 96.16, 87.42) | |
| 19:11221407 | C>W | A:319 | (-4.40, 96.16, 87.42) | |
| 19:11221411 | rs139361635 | D>N | A:321 | (1.61, 92.31, 89.70) |
| 19:11221414 | G>S | A:322 | (2.06, 89.22, 86.77) | |
| 19:11221429 | rs545532525 CD108083 |
A>T | A:327 | (-8.75, 101.22, 80.96) |
| 19:11221442 | rs193922566 CM107994 CM920443 CD042597 |
C>Y | A:331 | (-6.95, 94.19, 84.30) |
| 19:11221444 | rs370471092 CM013563 |
E>K | A:332 | (-7.29, 91.99, 80.80) |
| 19:11222195 | D>N | A:335 | (-2.98, 88.36, 76.21) | |
| 19:11222199 | E>G | A:336 | (1.24, 85.80, 78.09) | |
| 19:11222207 | D>H | A:339 | (7.67, 82.74, 70.63) | |
| 19:11222209 | D>E | A:339 | (7.67, 82.74, 70.63) | |
| 19:11222217 | rs200533979 | T>I | A:342 | (6.27, 82.09, 73.99) |
| 19:11222226 | Q>R | A:345 | (9.78, 74.45, 72.61) | |
| 19:11222232 | C>Y | A:347 | (2.96, 78.50, 74.25) | |
| 19:11222234 | V>M | A:348 | (0.12, 77.96, 76.45) | |
| 19:11222258 | C>R | A:356 | (6.28, 75.74, 78.39) | |
| 19:11222262 | Q>P | A:357 | (4.46, 72.25, 77.38) | |
| 19:11222273 | G>R | A:361 | (8.70, 62.97, 73.45) | |
| 19:11222274 | G>A | A:361 | (8.70, 62.97, 73.45) | |
| 19:11222289 | P>L | A:366 | (15.88, 71.08, 85.42) | |
| 19:11222291 | H>N | A:367 | (20.61, 72.62, 85.57) | |
| 19:11222295 | rs149227308 | T>M | A:368 | (17.12, 74.16, 81.48) |
| 19:11222300 | rs11669576 | A>T | A:370 | (14.87, 72.74, 77.24) |
| 19:11222310 | A>V | A:373 | (14.16, 65.42, 73.96) | |
| 19:11223962 | A>T | A:378 | (21.10, 63.12, 68.48) | |
| 19:11223968 | rs146200173 | L>V | A:380 | (25.36, 66.85, 63.12) |
| 19:11223983 | rs121908043 CM960936 CS075176 |
R>W | A:385 | (35.44, 68.02, 49.37) |
| 19:11223984 | rs552422789 CM001723 CM055375 |
R>Q | A:385 | (35.44, 68.02, 49.37) |
| 19:11223988 | COSM1390295 | H>Q | A:386 | (34.88, 64.56, 49.33) |
| 19:11223989 | rs137943601 | E>K | A:387 | (34.30, 64.06, 53.95) |
| 19:11224005 | rs368562025 CM020456 |
T>M | A:392 | (28.32, 63.37, 68.33) |
| 19:11224008 | L>R | A:393 | (25.20, 67.38, 68.82) | |
| 19:11224013 | rs570942190 CM970893 |
R>W | A:395 | (27.16, 62.46, 71.76) |
| 19:11224014 | COSM1711834 CM103826 CM981191 CM011396 |
R>Q | A:395 | (27.16, 62.46, 71.76) |
| 19:11224026 | T>N | A:399 | (32.15, 60.28, 61.93) | |
| 19:11224030 | S>R | A:400 | (32.37, 59.79, 58.90) | |
| 19:11224052 | rs28942078 | V>M | A:408 | (29.47, 67.25, 47.74) |
| 19:11224061 | L>V | A:411 | (23.44, 66.80, 53.09) | |
| 19:11224066 | D>E | A:412 | (18.22, 65.67, 53.17) | |
| 19:11224068 | COSM4074078 CM014577 CM920453 CM002351 |
T>M | A:413 | (18.09, 62.18, 55.36) |
| 19:11224074 | V>A | A:415 | (14.70, 57.74, 59.16) | |
| 19:11224077 | A>V | A:416 | (13.44, 54.04, 59.14) | |
| 19:11224094 | W>R | A:422 | (24.91, 62.03, 47.76) | |
| 19:11224102 | D>E | A:424 | (28.14, 64.58, 42.92) | |
| 19:11224124 | S>G | A:432 | (21.14, 57.03, 47.40) | |
| 19:11224218 | L>F | A:435 | (22.81, 53.56, 56.36) | |
| 19:11224245 | Y>N | A:444 | (23.39, 51.22, 47.31) | |
| 19:11224251 | T>S | A:446 | (21.95, 56.04, 40.99) | |
| 19:11224252 | T>N | A:446 | (21.95, 56.04, 40.99) | |
| 19:11224254 | rs5932 | V>I | A:447 | (19.04, 59.17, 41.51) |
| 19:11224266 | D>Y | A:451 | (18.87, 67.41, 34.36) | |
| 19:11224281 | COSM261750 CM055369 |
D>N | A:456 | (22.47, 74.30, 44.86) |
| 19:11224284 | rs144614838 | G>R | A:457 | (19.85, 71.09, 47.04) |
| 19:11224296 | rs139624145 | D>N | A:461 | (8.63, 63.69, 51.08) |
| 19:11224326 | rs373646964 CM981194 CM990803 |
D>N | A:471 | (19.41, 72.36, 39.12) |
| 19:11224348 | S>C | A:478 | (11.41, 69.40, 41.59) | |
| 19:11224354 | COSM2813917 COSM1579910 CM043859 CM055393 |
A>V | A:480 | (11.71, 63.27, 41.97) |
| 19:11224362 | K>E | A:483 | (11.61, 53.84, 45.14) | |
| 19:11224368 | rs373848925 COSM990781 |
V>M | A:485 | (11.43, 56.56, 38.55) |
| 19:11224381 | T>M | A:489 | (9.95, 70.59, 36.48) | |
| 19:11224398 | rs141673997 | G>S | A:495 | (16.33, 83.72, 37.98) |
| 19:11224399 | G>D | A:495 | (16.33, 83.72, 37.98) | |
| 19:11224402 | COSM1325515 | S>C | A:496 | (17.38, 81.30, 40.32) |
| 19:11224414 | A>V | A:500 | (17.36, 76.07, 49.80) | |
| 19:11224416 | I>V | A:501 | (14.53, 73.37, 49.50) | |
| 19:11224422 | V>M | A:503 | (9.58, 69.93, 52.75) | |
| 19:11224427 | D>E | A:504 | (5.73, 71.21, 55.78) | |
| 19:11224428 | COSM417762 CM100938 CM920460 |
P>S | A:505 | (5.50, 67.59, 55.40) |
| 19:11224431 | V>I | A:506 | (1.19, 67.93, 56.52) | |
| 19:11224432 | V>A | A:506 | (1.19, 67.93, 56.52) | |
| 19:11224437 | G>R | A:508 | (2.03, 70.72, 50.35) | |
| 19:11226775 | M>K | A:510 | (8.06, 73.84, 48.78) | |
| 19:11226796 | T>I | A:517 | (18.77, 91.04, 41.55) | |
| 19:11226801 | A>T | A:519 | (16.14, 88.28, 47.86) | |
| 19:11226806 | COSM213029 | K>N | A:520 | (13.29, 86.04, 47.93) |
| 19:11226817 | G>E | A:524 | (5.94, 75.59, 48.13) | |
| 19:11226828 | G>R | A:528 | (3.29, 74.36, 42.03) | |
| 19:11226829 | rs28941776 | G>D | A:528 | (3.29, 74.36, 42.03) |
| 19:11226834 | D>Y | A:530 | (0.96, 78.91, 46.32) | |
| 19:11226874 | N>S | A:543 | (22.91, 80.89, 52.35) | |
| 19:11227540 | COSM3528470 | L>F | A:550 | (5.86, 72.17, 66.07) |
| 19:11227545 | S>R | A:551 | (5.04, 76.25, 63.96) | |
| 19:11227549 | rs185098634 | R>C | A:553 | (9.67, 81.74, 64.27) |
| 19:11227559 | rs138947766 | W>S | A:556 | (16.74, 83.70, 57.21) |
| 19:11227562 | rs72658864 | V>A | A:557 | (21.65, 81.93, 56.46) |
| 19:11227580 | S>F | A:563 | (23.13, 87.31, 59.54) | |
| 19:11227600 | rs140644832 | N>D | A:570 | (3.16, 83.57, 57.40) |
| 19:11227601 | N>S | A:570 | (3.16, 83.57, 57.40) | |
| 19:11227603 | G>R | A:571 | (5.62, 86.64, 58.57) | |
| 19:11227604 | rs137929307 | G>E | A:571 | (5.62, 86.64, 58.57) |
| 19:11227606 | rs544456198 | G>C | A:572 | (5.02, 86.85, 61.64) |
| 19:11227612 | rs373371572 COSM1130004 CM014579 |
R>W | A:574 | (10.89, 87.89, 61.93) |
| 19:11227613 | rs201102492 CM055377 CD951774 CM973289 |
R>Q | A:574 | (10.89, 87.89, 61.93) |
| 19:11227616 | K>R | A:575 | (13.44, 86.39, 64.38) | |
| 19:11227629 | E>D | A:579 | (24.94, 90.28, 63.41) | |
| 19:11227630 | D>N | A:580 | (29.18, 89.49, 64.49) | |
| 19:11230777 | F>L | A:598 | (23.92, 73.85, 65.48) | |
| 19:11230789 | rs555292896 COSM3718061 CD013650 |
I>V | A:602 | (32.78, 80.76, 55.95) |
| 19:11230790 | rs141155833 | I>T | A:602 | (32.78, 80.76, 55.95) |
| 19:11230798 | rs139791325 CM055367 |
E>K | A:605 | (38.33, 76.70, 57.51) |
| 19:11230807 | F>V | A:608 | (30.46, 77.87, 64.76) | |
| 19:11230820 | R>H | A:612 | (16.44, 78.40, 69.37) | |
| 19:11230828 | COSM218570 CM055354 |
G>S | A:615 | (21.71, 83.46, 73.31) |
| 19:11230834 | D>N | A:617 | (26.80, 80.51, 73.70) | |
| 19:11230840 | N>Y | A:619 | (30.54, 76.71, 71.70) | |
| 19:11230858 | L>I | A:625 | (36.06, 72.78, 58.32) | |
| 19:11230870 | E>K | A:629 | (27.06, 74.57, 52.14) | |
| 19:11230874 | rs563382937 CM094981 |
D>G | A:630 | (24.09, 71.24, 54.24) |
| 19:11230876 | M>V | A:631 | (24.38, 71.06, 58.81) | |
| 19:11230888 | H>N | A:635 | (17.24, 59.59, 65.28) | |
| 19:11231058 | rs28942083 | C>Y | A:646 | (-2.28, 58.26, 48.48) |
| 19:11231075 | S>R | A:652 | (-2.68, 52.07, 45.36) | |
| 19:11231081 | G>S | A:654 | (-3.85, 58.60, 43.70) | |
| 19:11231084 | G>S | A:655 | (-5.20, 57.84, 40.96) | |
| 19:11231087 | C>R | A:656 | (-2.81, 59.49, 39.90) | |
| 19:11231106 | P>L | A:662 | (1.05, 67.08, 47.16) | |
| 19:11231108 | A>T | A:663 | (-1.88, 69.95, 48.26) | |
| 19:11231112 | rs28942084 | P>L | A:664 | (-1.07, 73.02, 48.79) |
| 19:11231123 | P>S | A:668 | (-9.99, 74.15, 54.14) | |
| 19:11231126 | H>N | A:669 | (-12.54, 74.84, 50.69) | |
| 19:11231130 | rs369943481 | S>L | A:670 | (-7.58, 72.64, 48.84) |
| 19:11231147 | A>T | A:676 | (0.82, 65.00, 37.92) | |
| 19:11231154 | rs201573863 CM950771 |
P>L | A:678 | (5.50, 65.50, 32.82) |
| 19:11231156 | rs375009082 CM094085 |
D>N | A:679 | (8.03, 68.62, 31.25) |
| 19:11231159 | rs368838866 CM055380 |
G>S | A:680 | (4.15, 68.39, 28.27) |
| 19:11231162 | rs371482223 | M>V | A:681 | (1.93, 65.23, 29.11) |
| 19:11231174 | R>G | A:685 | (-10.19, 65.32, 30.60) | |
| 19:11231182 | M>I | A:687 | (-9.57, 64.64, 37.76) | |
| 19:11231184 | COSM1325514 | R>K | A:688 | (-7.72, 60.76, 38.06) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:11213408 | rs121908025 | W>G | A:66 | (18.24, 63.17, -6.14) |
| 19:11213450 | rs144172724 | E>K | A:80 | (24.99, 63.88, -1.17) |
| 19:11215908 | rs121908042 | C>Y | A:88 | (30.39, 59.53, 13.41) |
| 19:11216105 | rs121908033 | D>N | A:154 | (38.65, 83.03, 42.33) |
| 19:11216112 | rs121908026 | S>L | A:156 | (34.88, 89.31, 41.04) |
| 19:11216133 | rs121908039 | C>Y | A:163 | (39.40, 96.22, 41.00) |
| 19:11216172 | rs376459828 | C>Y | A:176 | (45.92, 95.70, 50.09) |
| 19:11216252 | rs387906303 | D>N | A:203 | (50.32, 84.57, 64.41) |
| 19:11216264 | rs121908029 | E>K | A:207 | (44.05, 93.95, 68.32) |
| 19:11217264 | rs768563000 | E>K | A:219 | (39.09, 115.39, 72.58) |
| 19:11217303 | rs150673992 | R>W | A:232 | (32.77, 115.14, 64.78) |
| 19:11217328 | rs121908040 | C>F | A:240 | (31.14, 106.87, 69.34) |
| 19:11217344 | rs139043155 | D>E | A:245 | (27.84, 111.96, 70.68) |
| 19:11217357 | rs749220643 | V>I | A:250 | (18.65, 117.77, 78.22) |
| 19:11218112 | rs368657165 | E>K | A:267 | (7.05, 124.39, 90.65) |
| 19:11218160 | rs121908030 | D>N | A:283 | (-2.79, 127.12, 92.12) |
| 19:11221390 | rs544453230 | G>S | A:314 | (-4.40, 108.16, 93.68) |
| 19:11221411 | rs139361635 | D>N | A:321 | (1.61, 92.31, 89.70) |
| 19:11221442 | rs193922566 | C>Y | A:331 | (-6.95, 94.19, 84.30) |
| 19:11222214 | rs138315511 | D>V | A:341 | (7.15, 86.48, 74.91) |
| 19:11223968 | rs146200173 | L>V | A:380 | (25.36, 66.85, 63.12) |
| 19:11223969 | rs121908038 | L>H | A:380 | (25.36, 66.85, 63.12) |
| 19:11223989 | rs137943601 | E>K | A:387 | (34.30, 64.06, 53.95) |
| 19:11224052 | rs28942078 | V>M | A:408 | (29.47, 67.25, 47.74) |
| 19:11224058 | rs28942079 | A>T | A:410 | (23.07, 69.47, 49.95) |
| 19:11224064 | rs121908036 | D>H | A:412 | (18.22, 65.67, 53.17) |
| 19:11224233 | rs193922568 | G>S | A:440 | (31.96, 48.32, 51.41) |
| 19:11224266 | rs730882102 | D>Y | A:451 | (18.87, 67.41, 34.36) |
| 19:11224296 | rs139624145 | D>N | A:461 | (8.63, 63.69, 51.08) |
| 19:11224320 | rs730880130 | W>R | A:469 | (15.21, 68.52, 41.93) |
| 19:11224419 | rs28942080 | V>M | A:502 | (12.57, 72.93, 53.31) |
| 19:11226820 | rs28942081 | G>D | A:525 | (3.79, 74.47, 46.55) |
| 19:11226829 | rs28941776 | G>D | A:528 | (3.29, 74.36, 42.03) |
| 19:11226873 | rs397509365 | N>H | A:543 | (22.91, 80.89, 52.35) |
| 19:11226877 | rs28942082 | G>V | A:544 | (20.30, 78.14, 53.83) |
| 19:11227549 | rs185098634 | R>C | A:553 | (9.67, 81.74, 64.27) |
| 19:11227604 | rs137929307 | G>E | A:571 | (5.62, 86.64, 58.57) |
| 19:11227645 | rs72658865 | A>T | A:585 | (30.34, 84.24, 56.96) |
| 19:11230838 | rs794728584 | V>D | A:618 | (30.37, 80.71, 71.18) |
| 19:11231058 | rs28942083 | C>Y | A:646 | (-2.28, 58.26, 48.48) |
| 19:11231112 | rs28942084 | P>L | A:664 | (-1.07, 73.02, 48.79) |
| 19:11231156 | rs375009082 | D>N | A:679 | (8.03, 68.62, 31.25) |
| 19:11231171 | rs193922570 | A>S | A:684 | (-6.48, 65.02, 31.08) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:11215918 | COSM3712786 | D>E | A:91 | (29.93, 61.29, 18.41) |
| 19:11215925 | COSM3891505 | R>C | A:94 | (30.35, 66.75, 12.24) |
| 19:11217255 | COSM1680662 | R>C | A:216 | (46.66, 116.65, 72.73) |
| 19:11218140 | COSM71422 | N>S | A:276 | (-2.55, 119.74, 103.26) |
| 19:11218149 | COSM4140242 | R>T | A:279 | (-1.06, 129.30, 98.26) |
| 19:11222300 | COSM4987178 | A>T | A:370 | (14.87, 72.74, 77.24) |
| 19:11224014 | COSM1711834 | R>Q | A:395 | (27.16, 62.46, 71.76) |
| 19:11224428 | COSM417762 | P>S | A:505 | (5.50, 67.59, 55.40) |
| 19:11227594 | COSM1197156 | D>Y | A:568 | (6.54, 82.69, 61.31) |
| 19:11230789 | COSM3718061 | I>V | A:602 | (32.78, 80.76, 55.95) |
| 19:11230828 | COSM218570 | G>S | A:615 | (21.71, 83.46, 73.31) |