General Structure Information
| PDB ID | 4db1 |
| HGNC Gene Label(s) | MYH7 |
| Structure Name | cardiac human myosin s1dc, beta isoform complexed with mn-amppnp |
| Resolution | 2.6Å |
| Reference | AUTH V.A.KLENCHIN,J.C.DEACON,A.C.COMBS,L.A.LEINWAND,I.RAYMENTTITL CARDIAC HUMAN MYOSIN S1DC, BETA ISOFORM COMPLEXED WITHTITL 2 MN-AMPPNPREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 715 |
| Number Of SNVs | 97 |
| Number Of Permutations | 67235 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.008 |
| p-value | 0.346 |
ClinVar
| Number Of Residues | 715 |
| Number Of SNVs | 106 |
| Number Of Permutations | 70540 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.032 |
| p-value | 0.018 |
COSMIC
| Number Of Residues | 715 |
| Number Of SNVs | 23 |
| Number Of Permutations | 39348 |
| Optimal Distance Threshold | 4.0 |
| K Statistic | 0.004 |
| p-value | 0.737 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 97 |
| Number Of ClinVar SNVs | 95 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.005 |
| p-value | 0.028 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 97 |
| Number Of COSMIC SNVs | 19 |
| Optimal Distance Threshold | 4.0 |
| K Statistic | 0.005 |
| p-value | 0.602 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:23902931 | COSM124613 CM092554 |
S>L | A:4 | (19.06, 45.64, 44.82) |
| 14:23902925 | M>T | A:6 | (15.72, 44.04, 49.63) | |
| 14:23902914 | rs199577321 | G>R | A:10 | (19.79, 40.73, 54.42) |
| 14:23902901 | P>L | A:14 | (13.49, 36.32, 53.27) | |
| 14:23902888 | K>N | A:18 | (9.39, 36.80, 49.14) | |
| 14:23902875 | COSM954789 | R>W | A:23 | (8.01, 39.36, 42.44) |
| 14:23902865 | rs186964570 | A>V | A:26 | (3.21, 33.83, 40.84) |
| 14:23902866 | A>T | A:26 | (3.21, 33.83, 40.84) | |
| 14:23902851 | F>L | A:31 | (-6.56, 33.66, 37.80) | |
| 14:23902827 | rs376160714 FHC1010 CM031265 |
V>M | A:39 | (-17.39, 30.53, 48.71) |
| 14:23902818 | COSM1733958 | D>N | A:42 | (-19.16, 26.82, 58.03) |
| 14:23902804 | F>L | A:46 | (-15.20, 33.44, 53.69) | |
| 14:23902782 | R>G | A:54 | (-22.83, 28.58, 35.55) | |
| 14:23902776 | G>S | A:56 | (-29.28, 30.83, 37.20) | |
| 14:23902758 | E>K | A:62 | (-14.40, 23.15, 44.23) | |
| 14:23902430 | rs397516129 | T>S | A:70 | (-24.18, 25.23, 46.91) |
| 14:23902427 | COSM1493255 | V>M | A:71 | (-24.40, 28.96, 46.46) |
| 14:23902385 | D>H | A:85 | (-0.27, 37.42, 44.87) | |
| 14:23902370 | M>V | A:90 | (-4.36, 45.27, 51.75) | |
| 14:23902310 | G>S | A:110 | (3.04, 31.52, 55.06) | |
| 14:23902297 | I>T | A:114 | (4.63, 38.93, 60.22) | |
| 14:23902298 | I>F | A:114 | (4.63, 38.93, 60.22) | |
| 14:23902295 | rs397516183 CM042404 |
Y>H | A:115 | (5.33, 43.04, 60.03) |
| 14:23902000 | rs201012865 | Y>F | A:117 | (1.77, 48.58, 55.57) |
| 14:23901953 | rs199637885 | V>M | A:133 | (13.38, 41.05, 61.43) |
| 14:23901922 | rs397516209 FHC0103 COSM1369239 CM962618 |
R>Q | A:143 | (17.39, 55.70, 60.52) |
| 14:23901923 | COSM71746 CM034049 CM032601 |
R>W | A:143 | (17.39, 55.70, 60.52) |
| 14:23901907 | COSM3885914 CM034050 |
S>I | A:148 | (7.05, 53.61, 49.97) |
| 14:23901908 | S>G | A:148 | (7.05, 53.61, 49.97) | |
| 14:23901905 | E>K | A:149 | (11.05, 54.64, 50.66) | |
| 14:23901885 | F>L | A:155 | (11.84, 48.65, 63.06) | |
| 14:23901869 | rs552302426 | A>T | A:161 | (7.20, 58.94, 64.08) |
| 14:23901850 | T>R | A:167 | (9.49, 67.32, 59.96) | |
| 14:23901688 | T>I | A:177 | (-4.69, 47.26, 69.35) | |
| 14:23901068 | G>R | A:181 | (-1.78, 37.19, 71.97) | |
| 14:23901044 | K>Q | A:189 | (9.15, 45.50, 74.48) | |
| 14:23901020 | V>I | A:197 | (18.49, 52.87, 69.31) | |
| 14:23901008 | I>F | A:201 | (22.06, 62.00, 73.77) | |
| 14:23900999 | rs397516259 | R>C | A:204 | (24.67, 65.47, 81.27) |
| 14:23900886 | G>S | A:214 | (21.98, 55.21, 84.45) | |
| 14:23900868 | I>V | A:220 | (12.39, 54.02, 79.49) | |
| 14:23900820 | rs397516261 | V>I | A:236 | (-5.72, 30.27, 78.33) |
| 14:23900817 | rs45516091 | R>W | A:237 | (-5.72, 33.66, 73.90) |
| 14:23900798 | rs267606910 CM055450 |
R>H | A:243 | (-4.76, 40.98, 82.58) |
| 14:23900672 | H>Y | A:251 | (8.23, 63.53, 76.84) | |
| 14:23900184 | I>T | A:274 | (-8.51, 36.61, 95.12) | |
| 14:23900152 | I>V | A:285 | (5.52, 38.70, 92.11) | |
| 14:23900130 | rs564075781 | N>T | A:292 | (14.27, 30.27, 96.96) |
| 14:23899870 | M>L | A:300 | (11.17, 39.60, 104.49) | |
| 14:23899858 | T>S | A:304 | (6.56, 28.51, 102.34) | |
| 14:23899855 | N>H | A:305 | (8.78, 26.65, 98.88) | |
| 14:23899852 | rs201467368 | N>D | A:306 | (4.14, 25.35, 98.46) |
| 14:23899843 | D>N | A:309 | (1.01, 26.45, 101.46) | |
| 14:23899834 | F>L | A:312 | (-5.93, 34.73, 98.00) | |
| 14:23899819 | E>Q | A:317 | (-1.89, 26.43, 86.45) | |
| 14:23899810 | rs376897125 FHC1025 CM033923 |
V>M | A:320 | (4.78, 28.23, 83.15) |
| 14:23899792 | rs372731424 FHC0115 CM973125 |
A>P | A:326 | (13.98, 32.64, 89.11) |
| 14:23899104 | G>S | A:340 | (15.93, 53.78, 92.28) | |
| 14:23899089 | E>K | A:345 | (11.02, 52.01, 98.10) | |
| 14:23899077 | M>V | A:349 | (6.71, 46.33, 97.07) | |
| 14:23899036 | M>I | A:362 | (-7.28, 34.86, 107.35) | |
| 14:23898996 | D>H | A:376 | (-10.25, 28.86, 113.02) | |
| 14:23898993 | G>S | A:377 | (-6.98, 30.76, 114.04) | |
| 14:23898464 | V>I | A:411 | (-22.51, 51.39, 114.18) | |
| 14:23898449 | rs563668308 | N>H | A:416 | (-21.34, 35.77, 107.90) |
| 14:23898309 | I>T | A:421 | (-14.23, 35.22, 103.24) | |
| 14:23898310 | I>V | A:421 | (-14.23, 35.22, 103.24) | |
| 14:23898256 | rs370310929 | M>L | A:439 | (4.93, 50.59, 90.93) |
| 14:23898249 | rs121913653 | T>M | A:441 | (3.68, 57.02, 90.86) |
| 14:23898246 | R>H | A:442 | (9.39, 55.86, 92.57) | |
| 14:23898247 | rs148808089 | R>C | A:442 | (9.39, 55.86, 92.57) |
| 14:23898237 | A>V | A:445 | (9.80, 59.94, 89.52) | |
| 14:23898201 | rs397516103 | I>T | A:457 | (6.25, 59.63, 70.73) |
| 14:23898166 | rs397516106 COSM954777 |
D>N | A:469 | (-19.27, 33.37, 75.59) |
| 14:23897840 | rs121913651 | E>K | A:483 | (-16.48, 52.77, 70.16) |
| 14:23897768 | rs558212108 COSM954775 |
E>K | A:507 | (-16.38, 67.34, 45.03) |
| 14:23897094 | I>V | A:530 | (-25.11, 53.00, 80.37) | |
| 14:23897081 | L>P | A:534 | (-23.87, 52.50, 87.12) | |
| 14:23897071 | E>D | A:537 | (-28.83, 53.12, 91.08) | |
| 14:23897052 | rs397516119 | T>A | A:544 | (-30.84, 46.35, 93.00) |
| 14:23897020 | D>E | A:554 | (-37.38, 52.61, 82.08) | |
| 14:23896982 | rs377491278 | R>H | A:567 | (-29.79, 37.51, 72.48) |
| 14:23896983 | R>C | A:567 | (-29.79, 37.51, 72.48) | |
| 14:23896980 | N>D | A:568 | (-31.50, 34.13, 74.14) | |
| 14:23896955 | H>R | A:576 | (-29.48, 41.36, 81.61) | |
| 14:23896952 | F>S | A:577 | (-27.62, 45.37, 77.89) | |
| 14:23896953 | F>L | A:577 | (-27.62, 45.37, 77.89) | |
| 14:23896928 | I>T | A:585 | (-24.59, 42.99, 68.28) | |
| 14:23896926 | COSM240791 | V>M | A:586 | (-22.41, 43.06, 72.67) |
| 14:23896916 | N>S | A:589 | (-24.43, 39.93, 82.64) | |
| 14:23896910 | I>T | A:591 | (-25.00, 40.09, 87.71) | |
| 14:23896894 | K>N | A:596 | (-18.03, 45.02, 89.63) | |
| 14:23896826 | rs541143322 | T>I | A:619 | (0.87, 56.12, 101.32) |
| 14:23896823 | rs199862338 | L>Q | A:620 | (-1.44, 52.79, 99.54) |
| 14:23896451 | R>G | A:652 | (-15.77, 59.61, 83.26) | |
| 14:23896059 | K>N | A:657 | (-6.36, 62.46, 81.17) | |
| 14:23896055 | M>V | A:659 | (-8.77, 60.61, 73.95) | |
| 14:23896042 | rs371898076 FHC0137 COSM162726 CM993620 |
R>H | A:663 | (-8.46, 64.19, 70.66) |
| 14:23896033 | H>R | A:666 | (0.45, 61.98, 63.13) | |
| 14:23895986 | rs554149826 | G>R | A:682 | (1.98, 29.34, 60.53) |
| 14:23895283 | M>I | A:684 | (-4.44, 31.47, 59.71) | |
| 14:23895275 | COSM698145 | P>H | A:687 | (-12.75, 31.88, 61.74) |
| 14:23895255 | R>C | A:694 | (-15.82, 40.70, 61.07) | |
| 14:23895201 | R>C | A:712 | (-7.44, 56.72, 44.58) | |
| 14:23894602 | G>A | A:771 | (-14.15, 44.94, 38.14) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:23902913 | rs730880826 | G>A | A:10 | (19.79, 40.73, 54.42) |
| 14:23902914 | rs199577321 | G>R | A:10 | (19.79, 40.73, 54.42) |
| 14:23902865 | rs186964570 | A>V | A:26 | (3.21, 33.83, 40.84) |
| 14:23902340 | rs730880154 | A>S | A:100 | (-9.22, 39.41, 50.07) |
| 14:23902297 | rs730880833 | I>T | A:114 | (4.63, 38.93, 60.22) |
| 14:23901977 | rs730880729 | V>F | A:125 | (0.30, 37.99, 62.21) |
| 14:23901922 | rs397516209 | R>Q | A:143 | (17.39, 55.70, 60.52) |
| 14:23901923 | rs727503278 | R>W | A:143 | (17.39, 55.70, 60.52) |
| 14:23901919 | rs730880834 | G>D | A:144 | (14.52, 57.68, 56.84) |
| 14:23901912 | rs397516212 | K>N | A:146 | (8.97, 58.01, 53.73) |
| 14:23901908 | rs730880836 | S>G | A:148 | (7.05, 53.61, 49.97) |
| 14:23901898 | rs730880837 | P>L | A:151 | (9.58, 46.67, 53.32) |
| 14:23901856 | rs730880920 | M>K | A:165 | (8.55, 64.55, 66.42) |
| 14:23901857 | rs730880839 | M>V | A:165 | (8.55, 64.55, 66.42) |
| 14:23901713 | rs727504267 | R>G | A:169 | (8.48, 71.08, 63.62) |
| 14:23901710 | rs730880841 | E>K | A:170 | (3.22, 67.26, 65.17) |
| 14:23901707 | rs730880842 | N>H | A:171 | (2.83, 65.56, 69.52) |
| 14:23901077 | rs730880156 | G>R | A:178 | (-5.79, 43.49, 70.44) |
| 14:23901059 | rs730880843 | K>Q | A:184 | (-0.59, 44.03, 72.15) |
| 14:23901046 | rs730880844 | T>N | A:188 | (5.27, 48.07, 72.63) |
| 14:23901013 | rs727504283 | A>V | A:199 | (17.63, 58.98, 70.21) |
| 14:23901014 | rs730880845 | A>T | A:199 | (17.63, 58.98, 70.21) |
| 14:23901007 | rs397516258 | I>T | A:201 | (22.06, 62.00, 73.77) |
| 14:23900999 | rs397516259 | R>C | A:204 | (24.67, 65.47, 81.27) |
| 14:23900877 | rs730880847 | E>Q | A:217 | (18.04, 55.46, 77.25) |
| 14:23900859 | rs121913645 | A>T | A:223 | (9.80, 49.56, 83.32) |
| 14:23900829 | rs730880848 | A>S | A:233 | (-0.37, 36.67, 83.83) |
| 14:23900817 | rs45516091 | R>W | A:237 | (-5.72, 33.66, 73.90) |
| 14:23900811 | rs397516264 | D>N | A:239 | (2.34, 32.25, 78.98) |
| 14:23900801 | rs730880921 | S>C | A:242 | (-1.15, 42.24, 79.90) |
| 14:23900798 | rs267606910 | R>H | A:243 | (-4.76, 40.98, 82.58) |
| 14:23900796 | rs730880849 | F>L | A:244 | (-1.54, 46.61, 82.64) |
| 14:23900683 | rs730880922 | F>C | A:247 | (-0.28, 56.37, 76.94) |
| 14:23900677 | rs3218713 | R>Q | A:249 | (3.36, 61.19, 77.61) |
| 14:23900678 | rs730880852 | R>G | A:249 | (3.36, 61.19, 77.61) |
| 14:23900675 | rs397516268 | I>F | A:250 | (8.60, 58.89, 74.97) |
| 14:23900668 | rs727505202 | F>S | A:252 | (11.48, 63.06, 72.30) |
| 14:23900665 | rs730880853 | G>V | A:253 | (13.40, 67.67, 71.97) |
| 14:23900656 | rs121913633 | G>E | A:256 | (15.58, 64.14, 69.66) |
| 14:23900647 | rs730880854 | A>E | A:259 | (13.77, 64.04, 77.92) |
| 14:23900634 | rs730880855 | I>M | A:263 | (3.93, 55.22, 82.60) |
| 14:23900635 | rs397516269 | I>T | A:263 | (3.93, 55.22, 82.60) |
| 14:23900206 | rs727504409 | L>V | A:267 | (-8.80, 48.86, 83.86) |
| 14:23900163 | rs730880856 | R>T | A:281 | (0.57, 31.72, 87.15) |
| 14:23900157 | rs727503274 | Y>C | A:283 | (-1.13, 39.24, 88.84) |
| 14:23900158 | rs397515482 | Y>D | A:283 | (-1.13, 39.24, 88.84) |
| 14:23900145 | rs587782961 | Y>C | A:287 | (3.73, 32.29, 91.13) |
| 14:23900133 | rs397516272 | S>F | A:291 | (11.77, 30.75, 93.31) |
| 14:23900134 | rs730880857 | S>P | A:291 | (11.77, 30.75, 93.31) |
| 14:23899810 | rs376897125 | V>M | A:320 | (4.78, 28.23, 83.15) |
| 14:23899804 | rs730880859 | S>T | A:322 | (7.73, 29.63, 79.29) |
| 14:23899800 | rs397516275 | I>N | A:323 | (7.92, 31.31, 82.88) |
| 14:23899109 | rs397516087 | V>A | A:338 | (17.87, 50.43, 87.32) |
| 14:23899110 | rs727503271 | V>M | A:338 | (17.87, 50.43, 87.32) |
| 14:23899076 | rs121913640 | M>T | A:349 | (6.71, 46.33, 97.07) |
| 14:23899074 | rs730880863 | Y>H | A:350 | (9.52, 42.22, 97.54) |
| 14:23899071 | rs730880864 | K>E | A:351 | (7.13, 43.16, 103.64) |
| 14:23899052 | rs730880865 | M>R | A:357 | (0.76, 35.46, 100.23) |
| 14:23899049 | rs606231316 | H>L | A:358 | (0.36, 35.17, 105.03) |
| 14:23899021 | rs606231318 | K>N | A:367 | (-19.67, 32.72, 117.65) |
| 14:23899016 | rs397516089 | R>Q | A:369 | (-24.73, 30.44, 119.86) |
| 14:23898987 | rs730880866 | E>K | A:379 | (-1.04, 32.59, 112.52) |
| 14:23898544 | rs606231319 | S>Y | A:384 | (-0.56, 39.69, 107.88) |
| 14:23898538 | rs727503269 | Y>C | A:386 | (5.75, 41.91, 111.67) |
| 14:23898529 | rs727503268 | G>E | A:389 | (1.74, 47.24, 110.60) |
| 14:23898518 | rs730880925 | A>P | A:393 | (-6.53, 42.11, 117.35) |
| 14:23898487 | rs121913624 | R>L | A:403 | (-17.74, 50.35, 113.06) |
| 14:23898488 | rs3218714 | R>W | A:403 | (-17.74, 50.35, 113.06) |
| 14:23898464 | rs730880868 | V>I | A:411 | (-22.51, 51.39, 114.18) |
| 14:23898461 | rs730880869 | T>S | A:412 | (-21.36, 47.66, 115.48) |
| 14:23898304 | rs606231321 | A>T | A:423 | (-13.90, 41.48, 103.09) |
| 14:23898298 | rs397516097 | G>R | A:425 | (-10.68, 40.16, 99.37) |
| 14:23898280 | rs606231322 | V>M | A:431 | (-3.72, 46.53, 98.97) |
| 14:23898255 | rs730880927 | M>R | A:439 | (4.93, 50.59, 90.93) |
| 14:23898253 | rs397516098 | V>M | A:440 | (3.33, 53.54, 88.16) |
| 14:23898249 | rs121913653 | T>M | A:441 | (3.68, 57.02, 90.86) |
| 14:23898246 | rs730880870 | R>H | A:442 | (9.39, 55.86, 92.57) |
| 14:23898247 | rs148808089 | R>C | A:442 | (9.39, 55.86, 92.57) |
| 14:23898240 | rs730880159 | N>S | A:444 | (6.41, 58.30, 86.64) |
| 14:23898213 | rs397516101 | R>H | A:453 | (10.01, 68.31, 78.51) |
| 14:23898214 | rs121913625 | R>C | A:453 | (10.01, 68.31, 78.51) |
| 14:23898171 | rs730880872 | I>T | A:467 | (-17.21, 39.83, 71.37) |
| 14:23897840 | rs121913651 | E>K | A:483 | (-16.48, 52.77, 70.16) |
| 14:23897808 | rs730880876 | M>I | A:493 | (-9.24, 58.01, 57.23) |
| 14:23897809 | rs786205905 | M>K | A:493 | (-9.24, 58.01, 57.23) |
| 14:23897810 | rs730880875 | M>V | A:493 | (-9.24, 58.01, 57.23) |
| 14:23897796 | rs267606911 | E>D | A:497 | (-9.91, 60.61, 51.94) |
| 14:23897757 | rs606231323 | F>L | A:510 | (-20.83, 61.58, 54.07) |
| 14:23897755 | rs397516110 | I>T | A:511 | (-20.75, 63.09, 57.99) |
| 14:23897749 | rs121913636 | F>C | A:513 | (-15.79, 59.00, 57.84) |
| 14:23897716 | rs730880929 | I>T | A:524 | (-21.74, 54.64, 76.96) |
| 14:23897717 | rs727504401 | I>V | A:524 | (-21.74, 54.64, 76.96) |
| 14:23897714 | rs606231324 | E>K | A:525 | (-20.09, 59.84, 77.23) |
| 14:23897088 | rs121913642 | S>P | A:532 | (-25.05, 58.02, 84.61) |
| 14:23897085 | rs397516113 | I>V | A:533 | (-28.07, 55.13, 85.05) |
| 14:23897074 | rs397516115 | E>D | A:536 | (-26.92, 57.05, 89.83) |
| 14:23897075 | rs730880877 | E>G | A:536 | (-26.92, 57.05, 89.83) |
| 14:23897067 | rs730880930 | M>V | A:539 | (-25.77, 57.76, 94.96) |
| 14:23897055 | rs730880160 | A>T | A:543 | (-30.11, 49.64, 94.94) |
| 14:23896982 | rs377491278 | R>H | A:567 | (-29.79, 37.51, 72.48) |
| 14:23896955 | rs727504238 | H>R | A:576 | (-29.48, 41.36, 81.61) |
| 14:23896932 | rs121913626 | G>S | A:584 | (-21.27, 44.69, 67.10) |
| 14:23896925 | rs397516121 | V>A | A:586 | (-22.41, 43.06, 72.67) |
| 14:23896886 | rs730880931 | D>V | A:599 | (-14.75, 48.47, 96.01) |
| 14:23896884 | rs397516123 | P>S | A:600 | (-17.44, 48.01, 99.03) |
| 14:23896877 | rs730880880 | N>S | A:602 | (-13.73, 47.02, 106.60) |
| 14:23896871 | rs730880881 | T>I | A:604 | (-12.53, 49.44, 110.77) |
| 14:23896866 | rs121913627 | V>M | A:606 | (-9.11, 51.32, 105.88) |
| 14:23896453 | rs606231328 | H>R | A:651 | (-12.88, 54.37, 82.21) |
| 14:23896451 | rs727504239 | R>G | A:652 | (-15.77, 59.61, 83.26) |
| 14:23896061 | rs727503264 | K>Q | A:657 | (-6.36, 62.46, 81.17) |
| 14:23896042 | rs371898076 | R>H | A:663 | (-8.46, 64.19, 70.66) |
| 14:23896043 | rs397516127 | R>C | A:663 | (-8.46, 64.19, 70.66) |
| 14:23896012 | rs730880884 | I>S | A:673 | (-3.76, 39.54, 64.30) |
| 14:23895284 | rs606231332 | M>R | A:684 | (-4.44, 31.47, 59.71) |
| 14:23895272 | rs730880731 | L>P | A:688 | (-9.74, 33.82, 65.06) |
| 14:23895255 | rs727504240 | R>C | A:694 | (-15.82, 40.70, 61.07) |
| 14:23895248 | rs730880732 | N>S | A:696 | (-9.39, 45.63, 64.01) |
| 14:23895242 | rs397516130 | V>A | A:698 | (-9.10, 46.64, 58.90) |
| 14:23895230 | rs397516132 | I>N | A:702 | (-12.19, 48.96, 53.79) |
| 14:23894944 | rs727504320 | L>Q | A:749 | (-17.53, 52.30, 27.74) |
| 14:23894626 | rs730880735 | V>G | A:763 | (-8.92, 58.67, 38.28) |
| 14:23894622 | rs121913643 | F>L | A:764 | (-10.53, 59.65, 42.20) |
| 14:23894612 | rs727503260 | G>R | A:768 | (-16.57, 48.12, 40.79) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:23902931 | COSM124613 | S>L | A:4 | (19.06, 45.64, 44.82) |
| 14:23902818 | COSM1733958 | D>N | A:42 | (-19.16, 26.82, 58.03) |
| 14:23902316 | COSM2031889 | R>C | A:108 | (2.52, 38.77, 53.42) |
| 14:23902299 | COSM232838 | M>I | A:113 | (5.67, 37.80, 54.87) |
| 14:23901923 | COSM71746 | R>W | A:143 | (17.39, 55.70, 60.52) |
| 14:23901694 | COSM954784 | L>R | A:175 | (-2.65, 53.44, 68.64) |
| 14:23901076 | COSM4551597 | G>E | A:178 | (-5.79, 43.49, 70.44) |
| 14:23900677 | COSM954783 | R>Q | A:249 | (3.36, 61.19, 77.61) |
| 14:23899816 | COSM2031872 | T>A | A:318 | (1.83, 26.83, 89.99) |
| 14:23899040 | COSM1607528 | N>S | A:361 | (-4.29, 31.45, 104.51) |
| 14:23899017 | COSM432910 | R>W | A:369 | (-24.73, 30.44, 119.86) |
| 14:23898488 | COSM954779 | R>W | A:403 | (-17.74, 50.35, 113.06) |
| 14:23898464 | COSM4050076 | V>I | A:411 | (-22.51, 51.39, 114.18) |
| 14:23898270 | COSM1258465 | R>K | A:434 | (-4.65, 52.13, 96.41) |
| 14:23898213 | COSM4050075 | R>H | A:453 | (10.01, 68.31, 78.51) |
| 14:23898199 | COSM4050074 | G>R | A:458 | (2.70, 57.80, 72.19) |
| 14:23897768 | COSM954775 | E>K | A:507 | (-16.38, 67.34, 45.03) |
| 14:23897746 | COSM276215 | G>D | A:514 | (-16.80, 59.70, 63.51) |
| 14:23896926 | COSM240791 | V>M | A:586 | (-22.41, 43.06, 72.67) |
| 14:23896073 | COSM3885908 | E>K | A:653 | (-10.37, 61.10, 85.19) |
| 14:23896042 | COSM162726 | R>H | A:663 | (-8.46, 64.19, 70.66) |
| 14:23895227 | COSM71745 | R>H | A:703 | (-17.79, 51.50, 56.29) |
| 14:23894587 | COSM1677898 | M>T | A:776 | (-14.56, 44.08, 30.02) |