General Structure Information
| PDB ID | 3tdc |
| HGNC Gene Label(s) | ACACB |
| Structure Name | crystal structure of human acetyl-coa carboxylase 2 |
| Resolution | 2.41Å |
| Reference | AUTH T.YAMASHITA,M.KAMATA,S.ENDO,M.YAMAMOTO,K.KAKEGAWA,AUTH 2 H.WATANABE,K.MIWA,T.YAMANO,M.FUNATA,J.SAKAMOTO,A.TANI,AUTH 3 C.D.MOL,H.ZOU,D.R.DOUGAN,B.SANG,G.SNELL,K.FUKATSUTITL DESIGN, SYNTHESIS, AND STRUCTURE-ACTIVITY RELATIONSHIPS OFTITL 2 SPIROLACTONES BEARING 2-UREIDOBENZOTHIOPHENE AS ACETYL-COATITL 3 CARBOXYLASES INHIBITORS.REF BIOORG.MED.CHEM.LETT. V. 21 6314 2011REFN ISSN 0960-894XPMID 21944854DOI 10.1016/J.BMCL.2011.08.117 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 720 |
| Number Of SNVs | 226 |
| Number Of Permutations | 93952 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.017 |
| p-value | 0.753 |
COSMIC
| Number Of Residues | 720 |
| Number Of SNVs | 13 |
| Number Of Permutations | 17584 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.128 |
| p-value | 0.016 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 226 |
| Number Of COSMIC SNVs | 13 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.08 |
| p-value | 0.05 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:109680300 | T>I | A:1719 | (24.39, 18.44, 34.19) | |
| 12:109680306 | Y>C | A:1721 | (20.80, 14.20, 33.74) | |
| 12:109680308 | V>I | A:1722 | (20.66, 18.77, 37.71) | |
| 12:109680366 | Y>C | A:1741 | (20.60, 36.16, 44.36) | |
| 12:109680368 | I>V | A:1742 | (18.39, 38.44, 47.91) | |
| 12:109680381 | P>L | A:1746 | (14.34, 32.50, 51.61) | |
| 12:109680388 | rs372726643 | M>I | A:1748 | (19.71, 30.60, 54.24) |
| 12:109680392 | R>G | A:1750 | (12.81, 26.55, 54.48) | |
| 12:109680396 | rs375618828 | Q>R | A:1751 | (18.58, 25.54, 55.44) |
| 12:109683434 | rs151146449 | L>V | A:1753 | (13.83, 27.33, 60.96) |
| 12:109683440 | K>E | A:1755 | (20.38, 24.11, 63.19) | |
| 12:109683449 | G>S | A:1758 | (16.61, 19.92, 65.27) | |
| 12:109683458 | COSM1196410 COSM1196411 |
D>H | A:1761 | (11.61, 13.96, 65.01) |
| 12:109683468 | rs545762685 | P>R | A:1764 | (6.46, 21.44, 61.43) |
| 12:109683489 | T>S | A:1771 | (5.25, 36.33, 49.77) | |
| 12:109683503 | rs140188899 | D>H | A:1776 | (1.96, 48.85, 42.05) |
| 12:109683516 | rs145398869 | Q>R | A:1780 | (1.34, 50.93, 46.85) |
| 12:109683531 | rs147443159 | N>S | A:1785 | (3.65, 33.68, 44.44) |
| 12:109683534 | R>Q | A:1786 | (7.81, 37.15, 40.97) | |
| 12:109683984 | V>L | A:1793 | (14.20, 47.51, 41.67) | |
| 12:109683996 | rs142599425 | A>S | A:1797 | (10.81, 42.00, 49.63) |
| 12:109684003 | K>R | A:1799 | (4.85, 38.56, 54.49) | |
| 12:109684009 | rs144793901 | R>M | A:1801 | (3.27, 33.05, 58.41) |
| 12:109684017 | T>A | A:1804 | (8.82, 28.80, 66.32) | |
| 12:109684030 | rs372356232 | P>L | A:1808 | (3.82, 26.74, 67.14) |
| 12:109684038 | rs149326318 | R>W | A:1811 | (7.32, 34.86, 64.74) |
| 12:109684039 | rs144673785 | R>Q | A:1811 | (7.32, 34.86, 64.74) |
| 12:109684042 | D>V | A:1812 | (4.55, 37.07, 60.62) | |
| 12:109684044 | rs143901792 | V>M | A:1813 | (8.84, 38.57, 59.30) |
| 12:109684045 | V>A | A:1813 | (8.84, 38.57, 59.30) | |
| 12:109684051 | rs376636256 | V>A | A:1815 | (12.74, 40.32, 54.63) |
| 12:109684053 | rs200927603 | I>V | A:1816 | (13.93, 44.54, 53.43) |
| 12:109684056 | COSM1358591 COSM1358592 |
G>S | A:1817 | (17.00, 43.78, 50.32) |
| 12:109684065 | I>V | A:1820 | (25.15, 43.37, 45.35) | |
| 12:109684074 | rs368377350 COSM1946333 COSM1946334 |
R>C | A:1823 | (22.34, 50.10, 38.57) |
| 12:109684108 | L>P | A:1834 | (10.66, 48.46, 47.99) | |
| 12:109684110 | Y>H | A:1835 | (13.58, 50.28, 53.38) | |
| 12:109684116 | R>W | A:1837 | (5.64, 52.16, 50.50) | |
| 12:109684117 | rs201217547 | R>Q | A:1837 | (5.64, 52.16, 50.50) |
| 12:109684122 | S>T | A:1839 | (8.91, 49.64, 56.61) | |
| 12:109684125 | rs61752535 | E>K | A:1840 | (5.27, 52.06, 55.35) |
| 12:109684130 | M>I | A:1841 | (3.67, 46.33, 55.35) | |
| 12:109684135 | rs151300416 | R>Q | A:1843 | (5.42, 51.18, 60.69) |
| 12:109684138 | A>E | A:1844 | (1.01, 48.26, 60.16) | |
| 12:109684161 | rs563984467 | V>M | A:1852 | (19.86, 42.19, 54.12) |
| 12:109684164 | A>T | A:1853 | (23.13, 44.81, 54.00) | |
| 12:109684179 | A>T | A:1858 | (24.01, 56.52, 46.65) | |
| 12:109684182 | R>C | A:1859 | (21.89, 54.88, 41.77) | |
| 12:109684183 | rs369007554 | R>H | A:1859 | (21.89, 54.88, 41.77) |
| 12:109684185 | I>V | A:1860 | (26.90, 58.12, 41.52) | |
| 12:109684197 | E>K | A:1864 | (25.94, 59.59, 29.88) | |
| 12:109684200 | E>K | A:1865 | (22.59, 63.03, 27.33) | |
| 12:109684205 | I>M | A:1866 | (25.45, 66.14, 27.56) | |
| 12:109684214 | rs552607556 | M>I | A:1869 | (27.36, 66.79, 22.89) |
| 12:109684221 | rs200269069 | V>M | A:1872 | (35.81, 73.84, 25.48) |
| 12:109684236 | P>A | A:1877 | (42.95, 77.85, 21.36) | |
| 12:109684246 | P>L | A:1880 | (45.21, 74.53, 26.61) | |
| 12:109685412 | G>E | A:1883 | (42.25, 77.59, 30.12) | |
| 12:109685421 | Y>F | A:1886 | (32.38, 79.29, 27.46) | |
| 12:109685426 | Y>H | A:1888 | (30.47, 75.36, 23.42) | |
| 12:109685427 | Y>C | A:1888 | (30.47, 75.36, 23.42) | |
| 12:109685429 | rs552016893 | L>M | A:1889 | (26.03, 72.79, 23.33) |
| 12:109685447 | T>A | A:1895 | (18.42, 70.88, 17.87) | |
| 12:109685450 | R>G | A:1896 | (21.08, 66.59, 17.61) | |
| 12:109685451 | R>T | A:1896 | (21.08, 66.59, 17.61) | |
| 12:109685458 | S>R | A:1898 | (15.88, 71.00, 23.26) | |
| 12:109685471 | rs201210568 | V>I | A:1903 | (20.42, 71.41, 29.28) |
| 12:109685474 | rs369208008 | H>Y | A:1904 | (18.93, 74.75, 32.11) |
| 12:109685483 | H>Y | A:1907 | (22.10, 82.47, 22.21) | |
| 12:109685486 | I>V | A:1908 | (26.35, 83.12, 23.37) | |
| 12:109685489 | E>K | A:1909 | (26.80, 86.11, 19.45) | |
| 12:109687793 | M>V | A:1917 | (26.55, 79.24, 27.97) | |
| 12:109687800 | COSM1358593 COSM1358594 |
T>M | A:1919 | (24.01, 77.16, 33.12) |
| 12:109687803 | D>G | A:1920 | (22.23, 74.35, 34.57) | |
| 12:109687811 | rs3742025 | G>R | A:1923 | (19.17, 65.15, 32.68) |
| 12:109687832 | rs182648370 | V>M | A:1930 | (20.07, 65.62, 44.66) |
| 12:109689859 | C>W | A:1958 | (29.89, 42.73, 51.68) | |
| 12:109689872 | I>F | A:1963 | (21.99, 55.30, 53.35) | |
| 12:109689894 | L>P | A:1970 | (18.68, 54.14, 62.35) | |
| 12:109689903 | R>Q | A:1973 | (18.08, 45.73, 67.23) | |
| 12:109689913 | Q>H | A:1976 | (29.49, 42.84, 61.03) | |
| 12:109689926 | H>Y | A:1981 | (33.03, 47.17, 54.46) | |
| 12:109689933 | I>T | A:1983 | (31.90, 52.55, 55.03) | |
| 12:109689953 | L>V | A:1990 | (39.74, 59.24, 52.64) | |
| 12:109690842 | rs17848833 | T>I | A:2000 | (45.05, 49.47, 54.07) |
| 12:109690847 | N>H | A:2002 | (37.28, 49.78, 53.30) | |
| 12:109690848 | N>I | A:2002 | (37.28, 49.78, 53.30) | |
| 12:109690854 | rs150383484 | Q>P | A:2004 | (41.73, 50.22, 58.47) |
| 12:109690865 | rs138134900 | V>I | A:2008 | (34.63, 43.43, 62.89) |
| 12:109690876 | M>I | A:2011 | (31.92, 48.86, 64.03) | |
| 12:109690884 | N>S | A:2014 | (31.94, 50.81, 68.46) | |
| 12:109690887 | G>D | A:2015 | (28.50, 49.06, 69.28) | |
| 12:109690901 | rs187297100 | T>A | A:2020 | (30.34, 38.72, 64.82) |
| 12:109690904 | rs138582469 | V>M | A:2021 | (28.78, 36.09, 61.86) |
| 12:109690907 | P>S | A:2022 | (31.19, 33.35, 60.27) | |
| 12:109690910 | D>Y | A:2023 | (28.54, 32.59, 57.66) | |
| 12:109690931 | T>A | A:2030 | (21.76, 35.10, 64.88) | |
| 12:109690956 | M>T | A:2038 | (11.81, 39.01, 70.46) | |
| 12:109692024 | N>K | A:2042 | (3.64, 45.78, 68.40) | |
| 12:109692049 | P>S | A:2051 | (11.06, 24.98, 81.22) | |
| 12:109692053 | rs17848835 | T>I | A:2052 | (14.32, 21.95, 80.31) |
| 12:109692061 | rs76447919 | I>V | A:2055 | (11.79, 26.67, 88.38) |
| 12:109692065 | D>V | A:2056 | (12.52, 23.52, 91.78) | |
| 12:109692073 | I>V | A:2059 | (22.30, 28.95, 92.03) | |
| 12:109692082 | L>V | A:2062 | (28.74, 30.47, 94.78) | |
| 12:109692103 | COSM1188601 COSM1706246 COSM1188602 COSM1706247 |
D>N | A:2069 | (33.16, 35.95, 84.49) |
| 12:109692106 | P>T | A:2070 | (30.12, 38.01, 85.18) | |
| 12:109692110 | rs148572580 | R>Q | A:2071 | (30.25, 36.61, 81.23) |
| 12:109692114 | W>C | A:2072 | (32.26, 32.14, 85.50) | |
| 12:109692129 | R>S | A:2077 | (32.03, 27.51, 86.31) | |
| 12:109693957 | rs142964772 | T>M | A:2085 | (29.83, 18.58, 85.49) |
| 12:109693968 | rs150701956 | G>R | A:2089 | (23.16, 29.27, 87.14) |
| 12:109693975 | rs377624412 | F>Y | A:2091 | (19.43, 33.45, 83.96) |
| 12:109693981 | H>R | A:2093 | (22.03, 25.13, 80.32) | |
| 12:109693983 | rs201323153 | G>S | A:2094 | (21.83, 28.16, 77.29) |
| 12:109694001 | rs143974380 | M>V | A:2100 | (27.22, 45.29, 72.81) |
| 12:109694013 | A>T | A:2104 | (32.43, 48.28, 77.39) | |
| 12:109694014 | A>V | A:2104 | (32.43, 48.28, 77.39) | |
| 12:109694017 | Q>R | A:2105 | (34.96, 44.65, 78.17) | |
| 12:109694025 | V>M | A:2108 | (27.54, 42.23, 80.72) | |
| 12:109694035 | COSM546171 COSM546172 |
R>Q | A:2111 | (18.93, 39.22, 74.41) |
| 12:109696089 | rs146424440 | V>M | A:2119 | (15.03, 38.43, 80.18) |
| 12:109696102 | A>V | A:2123 | (25.97, 42.72, 84.32) | |
| 12:109696110 | rs373662394 | T>P | A:2126 | (34.59, 41.99, 89.13) |
| 12:109696113 | R>W | A:2127 | (37.30, 39.93, 85.47) | |
| 12:109696114 | rs368938120 | R>Q | A:2127 | (37.30, 39.93, 85.47) |
| 12:109696119 | V>M | A:2129 | (39.21, 45.67, 81.79) | |
| 12:109696125 | V>M | A:2131 | (41.01, 48.05, 76.53) | |
| 12:109696129 | A>V | A:2132 | (42.79, 47.77, 72.88) | |
| 12:109696131 | V>I | A:2133 | (43.20, 51.81, 72.03) | |
| 12:109696132 | V>G | A:2133 | (43.20, 51.81, 72.03) | |
| 12:109696149 | N>D | A:2139 | (48.34, 61.00, 64.08) | |
| 12:109696150 | N>S | A:2139 | (48.34, 61.00, 64.08) | |
| 12:109696167 | K>Q | A:2145 | (48.15, 52.93, 73.89) | |
| 12:109696798 | Q>H | A:2152 | (32.69, 47.06, 90.81) | |
| 12:109696807 | rs373328609 | F>L | A:2155 | (34.37, 53.79, 83.12) |
| 12:109696813 | rs377654795 | D>E | A:2157 | (32.34, 52.91, 77.85) |
| 12:109696817 | rs369413010 | A>T | A:2159 | (27.01, 54.11, 80.48) |
| 12:109696821 | Y>S | A:2160 | (26.25, 55.14, 74.81) | |
| 12:109696827 | T>I | A:2162 | (23.81, 50.46, 80.15) | |
| 12:109696829 | rs145553418 | A>T | A:2163 | (21.52, 52.98, 77.88) |
| 12:109696830 | A>V | A:2163 | (21.52, 52.98, 77.88) | |
| 12:109696838 | rs2075260 | V>I | A:2166 | (17.84, 50.12, 78.87) |
| 12:109696841 | K>E | A:2167 | (16.53, 53.03, 74.61) | |
| 12:109696854 | rs374132389 | R>Q | A:2171 | (12.33, 50.54, 72.05) |
| 12:109696861 | rs143558242 | K>N | A:2173 | (7.63, 45.19, 74.24) |
| 12:109696868 | L>V | A:2176 | (15.47, 44.55, 82.66) | |
| 12:109696869 | L>P | A:2176 | (15.47, 44.55, 82.66) | |
| 12:109696872 | COSM934762 COSM934763 |
M>K | A:2177 | (16.91, 40.81, 85.23) |
| 12:109696876 | I>M | A:2178 | (19.60, 45.03, 86.73) | |
| 12:109696881 | A>G | A:2180 | (23.82, 45.23, 90.86) | |
| 12:109696885 | N>K | A:2181 | (28.37, 45.24, 91.36) | |
| 12:109696893 | G>E | A:2184 | (30.29, 54.12, 90.45) | |
| 12:109696901 | rs148052616 | G>S | A:2187 | (35.41, 61.25, 88.09) |
| 12:109696909 | M>I | A:2189 | (39.99, 65.25, 83.89) | |
| 12:109696913 | D>N | A:2191 | (36.30, 59.80, 82.34) | |
| 12:109698320 | I>V | A:2203 | (20.95, 55.20, 82.82) | |
| 12:109698323 | V>M | A:2204 | (17.56, 58.20, 84.25) | |
| 12:109698329 | rs530383151 | G>S | A:2206 | (15.39, 54.69, 80.26) |
| 12:109698344 | K>E | A:2211 | (6.38, 50.87, 79.20) | |
| 12:109698363 | rs146283042 | Y>C | A:2217 | (19.90, 40.15, 93.21) |
| 12:109698369 | rs139082246 | P>L | A:2219 | (24.54, 40.18, 94.03) |
| 12:109698386 | R>W | A:2225 | (28.28, 51.84, 97.52) | |
| 12:109698387 | R>Q | A:2225 | (28.28, 51.84, 97.52) | |
| 12:109698389 | COSM1244058 | G>R | A:2226 | (25.87, 56.47, 94.83) |
| 12:109698398 | rs570493501 | W>R | A:2229 | (20.75, 52.81, 95.18) |
| 12:109698409 | I>M | A:2232 | (19.24, 52.13, 89.25) | |
| 12:109698419 | I>V | A:2236 | (13.31, 56.44, 88.19) | |
| 12:109698426 | rs372069080 | P>L | A:2238 | (7.42, 53.40, 90.49) |
| 12:109698444 | Y>C | A:2244 | (14.42, 42.37, 95.18) | |
| 12:109698455 | rs368094089 | E>Q | A:2248 | (26.05, 38.28, 102.05) |
| 12:109698459 | S>N | A:2249 | (24.78, 42.92, 100.12) | |
| 12:109700163 | G>S | A:2251 | (24.76, 50.00, 100.69) | |
| 12:109700164 | rs139062970 | G>V | A:2251 | (24.76, 50.00, 100.69) |
| 12:109700172 | L>M | A:2254 | (30.35, 56.87, 100.53) | |
| 12:109700182 | E>A | A:2257 | (36.71, 52.77, 103.43) | |
| 12:109700197 | I>N | A:2262 | (33.62, 62.57, 105.85) | |
| 12:109700206 | COSM1358605 | R>Q | A:2265 | (38.65, 62.75, 110.23) |
| 12:109700214 | D>N | A:2268 | (36.01, 60.85, 116.50) | |
| 12:109700222 | I>M | A:2270 | (41.55, 60.23, 119.94) | |
| 12:109700236 | rs149957235 | R>M | A:2275 | (34.63, 54.75, 124.73) |
| 12:109700244 | rs200696584 | P>S | A:2278 | (42.52, 50.50, 129.06) |
| 12:109700245 | P>R | A:2278 | (42.52, 50.50, 129.06) | |
| 12:109700263 | M>T | A:2284 | (44.15, 61.38, 129.61) | |
| 12:109700264 | M>I | A:2284 | (44.15, 61.38, 129.61) | |
| 12:109700265 | rs79982724 | E>K | A:2285 | (42.46, 59.37, 134.34) |
| 12:109700271 | L>I | A:2287 | (47.97, 63.98, 131.80) | |
| 12:109702042 | P>S | A:2290 | (47.14, 69.67, 138.83) | |
| 12:109702045 | D>Y | A:2291 | (49.98, 67.98, 141.43) | |
| 12:109702057 | K>E | A:2295 | (60.55, 64.80, 134.83) | |
| 12:109702064 | R>Q | A:2297 | (52.68, 67.27, 132.29) | |
| 12:109702079 | rs374238980 | G>V | A:2302 | (54.77, 60.25, 125.21) |
| 12:109702081 | rs199967038 | R>W | A:2303 | (53.63, 56.60, 128.74) |
| 12:109702082 | R>Q | A:2303 | (53.63, 56.60, 128.74) | |
| 12:109702085 | L>R | A:2304 | (49.23, 59.56, 125.14) | |
| 12:109702093 | rs537638499 | R>C | A:2307 | (48.63, 52.71, 123.25) |
| 12:109702094 | rs565580708 | R>H | A:2307 | (48.63, 52.71, 123.25) |
| 12:109702096 | E>K | A:2308 | (47.83, 58.33, 119.30) | |
| 12:109702103 | L>P | A:2310 | (50.22, 51.06, 118.69) | |
| 12:109702114 | I>F | A:2314 | (43.03, 48.62, 114.51) | |
| 12:109702130 | rs139826793 | A>V | A:2319 | (35.34, 52.66, 112.06) |
| 12:109702141 | A>T | A:2323 | (30.21, 51.94, 108.71) | |
| 12:109702144 | D>N | A:2324 | (29.92, 47.77, 107.05) | |
| 12:109702156 | T>A | A:2328 | (23.13, 46.36, 105.93) | |
| 12:109702162 | rs140217207 | G>S | A:2330 | (18.62, 45.59, 106.80) |
| 12:109702166 | rs149917930 | R>Q | A:2331 | (19.54, 51.33, 107.08) |
| 12:109702168 | M>V | A:2332 | (18.74, 48.18, 102.43) | |
| 12:109702181 | G>D | A:2336 | (12.39, 50.94, 101.94) | |
| 12:109702183 | rs374342222 | V>I | A:2337 | (15.22, 51.06, 99.70) |
| 12:109702915 | D>N | A:2340 | (12.53, 41.26, 99.87) | |
| 12:109702925 | E>V | A:2343 | (19.07, 33.30, 100.70) | |
| 12:109702936 | rs587776495 | A>T | A:2347 | (16.96, 33.49, 93.71) |
| 12:109702939 | R>C | A:2348 | (16.26, 30.00, 88.86) | |
| 12:109702940 | rs147616769 | R>H | A:2348 | (16.26, 30.00, 88.86) |
| 12:109702942 | T>A | A:2349 | (12.91, 29.99, 92.68) | |
| 12:109702943 | T>S | A:2349 | (12.91, 29.99, 92.68) | |
| 12:109702946 | F>S | A:2350 | (11.60, 35.20, 95.08) | |
| 12:109702957 | rs560469698 | R>C | A:2354 | (7.15, 39.18, 92.24) |
| 12:109702958 | rs146268113 | R>H | A:2354 | (7.15, 39.18, 92.24) |
| 12:109702963 | rs147871680 | R>C | A:2356 | (4.68, 33.72, 85.68) |
| 12:109702964 | rs367989648 | R>H | A:2356 | (4.68, 33.72, 85.68) |
| 12:109702967 | COSM4038503 | R>H | A:2357 | (2.35, 38.35, 91.25) |
| 12:109702970 | L>R | A:2358 | (4.99, 41.28, 88.06) | |
| 12:109702983 | D>E | A:2362 | (0.62, 44.07, 83.13) | |
| 12:109702999 | I>F | A:2368 | (-8.51, 47.42, 84.41) | |
| 12:109703003 | rs371799472 | L>P | A:2369 | (-6.42, 51.23, 82.16) |
| 12:109703009 | A>G | A:2371 | (-12.24, 50.22, 80.58) | |
| 12:109703014 | rs368598355 | G>R | A:2373 | (-8.37, 55.46, 82.33) |
| 12:109703017 | E>K | A:2374 | (-9.75, 58.58, 84.59) | |
| 12:109703018 | E>V | A:2374 | (-9.75, 58.58, 84.59) | |
| 12:109703026 | rs200707789 | H>D | A:2377 | (-1.60, 53.25, 88.54) |
| 12:109703029 | V>M | A:2378 | (-3.43, 52.84, 94.10) | |
| 12:109703039 | Q>R | A:2381 | (-2.66, 46.83, 93.41) | |
| 12:109703044 | rs117537396 | M>V | A:2383 | (-9.88, 46.50, 92.01) |
| 12:109703051 | COSM934767 | R>H | A:2385 | (-5.81, 42.36, 98.50) |
| 12:109703053 | rs372645487 | R>C | A:2386 | (-11.38, 44.79, 96.19) |
| 12:109703062 | rs552167251 | V>M | A:2389 | (-10.69, 38.45, 99.17) |
| 12:109703069 | COSM1244060 | T>M | A:2391 | (-12.83, 34.41, 95.03) |
| 12:109703218 | rs148106171 | V>M | A:2405 | (-0.80, 31.21, 95.16) |
| 12:109703221 | rs141894238 | V>I | A:2406 | (-1.23, 34.94, 92.85) |
| 12:109703222 | V>A | A:2406 | (-1.23, 34.94, 92.85) | |
| 12:109703224 | rs373300737 | V>M | A:2407 | (0.45, 32.69, 89.30) |
| 12:109703230 | rs564704950 | W>R | A:2409 | (-6.89, 34.14, 91.50) |
| 12:109703290 | T>A | A:2429 | (-18.38, 44.93, 81.95) | |
| 12:109703291 | T>M | A:2429 | (-18.38, 44.93, 81.95) | |
| 12:109703305 | rs144520667 | D>N | A:2434 | (-19.76, 53.98, 84.27) |
| 12:109703307 | rs139766548 | D>E | A:2434 | (-19.76, 53.98, 84.27) |
| 12:109703309 | S>F | A:2435 | (-16.28, 55.09, 80.98) | |
| 12:109703314 | L>F | A:2437 | (-22.22, 56.97, 80.30) | |
| 12:109703323 | I>V | A:2440 | (-21.22, 60.11, 75.72) | |
| 12:109703327 | rs201073233 | R>Q | A:2441 | (-20.38, 63.87, 80.77) |
| 12:109704057 | P>T | A:2448 | (-24.48, 72.12, 73.49) | |
| 12:109704060 | E>K | A:2449 | (-26.06, 71.44, 68.91) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:109683458 | COSM1196411 | D>N | A:1761 | (11.61, 13.96, 65.01) |
| 12:109684056 | COSM1358591 | G>S | A:1817 | (17.00, 43.78, 50.32) |
| 12:109684081 | COSM3810921 | G>V | A:1825 | (23.33, 48.24, 45.31) |
| 12:109684137 | COSM1605540 | A>S | A:1844 | (1.01, 48.26, 60.16) |
| 12:109685508 | COSM1677328 | R>I | A:1915 | (29.63, 79.42, 21.08) |
| 12:109687889 | COSM4552967 | E>Q | A:1949 | (6.51, 51.90, 65.91) |
| 12:109687895 | COSM3396051 | V>F | A:1951 | (11.55, 44.42, 66.06) |
| 12:109690898 | COSM3703842 | I>V | A:2019 | (27.11, 39.72, 67.07) |
| 12:109694012 | COSM1677330 | W>C | A:2103 | (30.92, 49.35, 73.70) |
| 12:109694035 | COSM546171 | R>L | A:2111 | (18.93, 39.22, 74.41) |
| 12:109696853 | COSM2150980 | R>W | A:2171 | (12.33, 50.54, 72.05) |
| 12:109698326 | COSM1677332 | D>N | A:2205 | (16.18, 59.17, 80.36) |
| 12:109703325 | COSM1746729 | I>M | A:2440 | (-21.22, 60.11, 75.72) |