General Structure Information
| PDB ID | 3au5 |
| HGNC Gene Label(s) | MYO10 |
| Structure Name | structure of the human myosin-x myth4-ferm cassette |
| Resolution | 2.55Å |
| Reference | AUTH Y.HIRANO,T.HATANO,A.TAKAHASHI,M.TORIYAMA,N.INAGAKI,AUTH 2 T.HAKOSHIMATITL STRUCTURAL BASIS OF CARGO RECOGNITION BY THE MYOSIN-XTITL 2 MYTH4-FERM DOMAINREF EMBO J. V. 30 2734 2011REFN ISSN 0261-4189PMID 21642953DOI 10.1038/EMBOJ.2011.177 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 484 |
| Number Of SNVs | 132 |
| Number Of Permutations | 34397 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.286 |
| p-value | 0.663 |
COSMIC
| Number Of Residues | 484 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1266 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.1 |
| p-value | 0.841 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 132 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.074 |
| p-value | 0.844 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:16680077 | Q>H | B:1507 | (-47.05, -16.89, -56.51) | |
| 5:16680063 | D>G | B:1512 | (-51.74, -25.45, -56.07) | |
| 5:16680057 | K>R | B:1514 | (-46.09, -27.03, -51.68) | |
| 5:16676256 | C>Y | B:1517 | (-45.82, -33.22, -54.38) | |
| 5:16676253 | rs557281540 | L>R | B:1518 | (-46.81, -36.23, -52.81) |
| 5:16676247 | rs61744227 | S>L | B:1520 | (-48.39, -37.41, -60.10) |
| 5:16676233 | Q>E | B:1525 | (-53.32, -31.39, -64.09) | |
| 5:16676221 | rs373603959 | R>W | B:1529 | (-57.05, -26.98, -66.74) |
| 5:16676214 | P>L | B:1531 | (-51.12, -22.85, -69.85) | |
| 5:16676196 | rs370259877 | H>R | B:1537 | (-45.89, -20.69, -79.27) |
| 5:16676178 | P>L | B:1543 | (-44.53, -10.09, -65.11) | |
| 5:16676170 | rs368821991 | P>A | B:1546 | (-44.28, -10.74, -58.16) |
| 5:16676163 | rs377728133 COSM1065447 |
P>L | B:1548 | (-40.46, -5.58, -56.04) |
| 5:16676160 | Y>C | B:1549 | (-41.24, -1.78, -59.93) | |
| 5:16675250 | D>V | B:1559 | (-28.07, 6.59, -62.93) | |
| 5:16675229 | Q>R | B:1566 | (-41.89, -5.35, -65.70) | |
| 5:16675208 | F>S | B:1573 | (-40.48, -14.87, -72.52) | |
| 5:16675209 | rs371657176 | F>L | B:1573 | (-40.48, -14.87, -72.52) |
| 5:16675192 | Q>H | B:1578 | (-37.58, -13.87, -80.98) | |
| 5:16675191 | rs199723519 | L>M | B:1579 | (-34.14, -17.52, -80.20) |
| 5:16675164 | I>V | B:1588 | (-28.18, -13.49, -76.28) | |
| 5:16675154 | rs42766 | G>D | B:1591 | (-27.49, -10.47, -70.86) |
| 5:16675149 | L>I | B:1593 | (-26.68, -13.75, -67.06) | |
| 5:16675122 | L>V | B:1602 | (-35.61, -10.07, -62.49) | |
| 5:16675119 | R>W | B:1603 | (-31.41, -12.90, -59.07) | |
| 5:16675085 | COSM449268 | T>S | B:1614 | (-37.95, -26.21, -69.77) |
| 5:16675074 | P>T | B:1618 | (-42.82, -29.00, -78.58) | |
| 5:16675065 | rs117892845 | G>S | B:1621 | (-33.87, -31.50, -78.16) |
| 5:16675032 | rs185651996 | L>V | B:1632 | (-31.09, -23.02, -66.32) |
| 5:16675013 | T>I | B:1638 | (-24.43, -16.46, -61.74) | |
| 5:16674998 | COSM1065439 | R>Q | B:1643 | (-35.02, -18.62, -50.65) |
| 5:16673993 | R>Q | B:1657 | (-32.05, -36.93, -64.50) | |
| 5:16673994 | R>W | B:1657 | (-32.05, -36.93, -64.50) | |
| 5:16673988 | Q>E | B:1659 | (-40.10, -37.49, -67.32) | |
| 5:16673983 | F>L | B:1660 | (-37.03, -36.23, -70.74) | |
| 5:16673979 | G>R | B:1662 | (-29.96, -39.83, -71.84) | |
| 5:16673967 | E>Q | B:1666 | (-30.32, -35.89, -67.88) | |
| 5:16673960 | Y>C | B:1668 | (-27.31, -29.18, -70.07) | |
| 5:16673958 | A>T | B:1669 | (-30.19, -30.95, -65.01) | |
| 5:16673954 | L>H | B:1670 | (-27.03, -33.44, -63.10) | |
| 5:16673955 | rs547603553 | L>V | B:1670 | (-27.03, -33.44, -63.10) |
| 5:16673949 | T>A | B:1672 | (-27.99, -27.12, -62.80) | |
| 5:16673930 | K>T | B:1678 | (-20.52, -25.29, -55.77) | |
| 5:16673909 | V>A | B:1685 | (-21.67, -12.15, -65.43) | |
| 5:16673906 | rs368708280 | P>L | B:1686 | (-20.54, -15.47, -66.76) |
| 5:16673900 | COSM1065435 | R>Q | B:1688 | (-17.85, -14.79, -75.39) |
| 5:16673897 | rs375400478 | D>G | B:1689 | (-14.44, -18.48, -72.58) |
| 5:16673882 | L>Q | B:1694 | (-21.06, -23.72, -68.66) | |
| 5:16673883 | L>V | B:1694 | (-21.06, -23.72, -68.66) | |
| 5:16673879 | rs370804744 | I>T | B:1695 | (-22.75, -24.75, -73.47) |
| 5:16673861 | T>I | B:1701 | (-8.93, -23.04, -69.95) | |
| 5:16673855 | T>M | B:1703 | (-2.95, -18.49, -68.52) | |
| 5:16673849 | Y>C | B:1705 | (0.95, -15.36, -67.74) | |
| 5:16673838 | rs531604162 | G>S | B:1709 | (7.88, -15.64, -69.39) |
| 5:16673825 | K>R | B:1713 | (-3.09, -25.00, -69.11) | |
| 5:16673821 | I>M | B:1714 | (-5.45, -22.91, -65.29) | |
| 5:16673822 | I>T | B:1714 | (-5.45, -22.91, -65.29) | |
| 5:16673817 | I>V | B:1716 | (-11.32, -23.01, -63.93) | |
| 5:16673799 | A>T | B:1722 | (-7.60, -18.53, -56.05) | |
| 5:16672927 | rs376572268 | E>V | B:1727 | (-3.13, -25.43, -52.66) |
| 5:16672928 | E>K | B:1727 | (-3.13, -25.43, -52.66) | |
| 5:16672904 | M>V | B:1735 | (7.09, -23.94, -53.41) | |
| 5:16672894 | S>N | B:1738 | (7.67, -21.95, -48.53) | |
| 5:16672885 | M>T | B:1741 | (2.97, -16.77, -48.14) | |
| 5:16672886 | rs374096730 | M>V | B:1741 | (2.97, -16.77, -48.14) |
| 5:16672882 | F>C | B:1742 | (3.95, -17.89, -53.02) | |
| 5:16672862 | G>S | B:1749 | (2.16, -4.34, -65.34) | |
| 5:16672855 | V>A | B:1751 | (-0.52, -2.51, -61.02) | |
| 5:16672856 | COSM1634125 | V>I | B:1751 | (-0.52, -2.51, -61.02) |
| 5:16672844 | I>V | B:1755 | (-6.56, -12.61, -55.82) | |
| 5:16672829 | V>I | B:1760 | (-14.18, -16.96, -58.17) | |
| 5:16672819 | rs369875344 | D>V | B:1763 | (-15.76, -13.50, -61.05) |
| 5:16671617 | W>R | B:1782 | (-5.70, -6.07, -65.96) | |
| 5:16671607 | Y>C | B:1785 | (1.53, -12.44, -63.68) | |
| 5:16671604 | rs368604684 | F>C | B:1786 | (2.52, -17.72, -58.72) |
| 5:16671599 | rs374361994 | L>V | B:1788 | (6.30, -13.80, -53.22) |
| 5:16671596 | Y>H | B:1789 | (0.99, -10.98, -50.83) | |
| 5:16671580 | rs368061125 | T>I | B:1794 | (14.61, -13.57, -47.48) |
| 5:16671572 | rs536649750 | V>M | B:1797 | (15.85, -19.27, -49.34) |
| 5:16671553 | E>A | B:1803 | (11.52, -20.05, -52.94) | |
| 5:16671535 | E>G | B:1809 | (12.82, -13.43, -62.27) | |
| 5:16671081 | E>K | B:1813 | (9.86, -7.06, -62.82) | |
| 5:16671077 | A>V | B:1814 | (11.29, -4.38, -59.18) | |
| 5:16671071 | rs189405246 | I>T | B:1816 | (13.03, -3.17, -64.46) |
| 5:16671061 | H>Q | B:1819 | (9.18, -0.57, -57.12) | |
| 5:16671059 | H>P | B:1820 | (15.94, -1.80, -55.62) | |
| 5:16671060 | H>N | B:1820 | (15.94, -1.80, -55.62) | |
| 5:16671053 | rs374196495 | A>V | B:1822 | (19.74, 2.05, -55.46) |
| 5:16671051 | rs547027348 | P>A | B:1823 | (23.00, 3.10, -55.69) |
| 5:16671034 | rs373476309 | Q>H | B:1828 | (24.92, 0.34, -63.82) |
| 5:16670997 | D>H | B:1841 | (30.17, -14.90, -71.40) | |
| 5:16670990 | T>I | B:1843 | (30.79, -10.96, -77.08) | |
| 5:16670988 | rs185125645 | L>V | B:1844 | (33.59, -7.18, -79.05) |
| 5:16670982 | rs371334940 | A>T | B:1846 | (26.83, -8.52, -78.42) |
| 5:16670967 | L>F | B:1851 | (18.17, -0.78, -71.69) | |
| 5:16670964 | rs567489277 | E>K | B:1852 | (13.49, -1.35, -71.27) |
| 5:16670961 | E>K | B:1853 | (14.03, -5.94, -71.15) | |
| 5:16670958 | V>F | B:1854 | (18.16, -4.86, -68.02) | |
| 5:16670954 | rs201810628 | Y>F | B:1855 | (19.01, 0.77, -66.56) |
| 5:16670930 | rs563993750 | R>H | B:1863 | (10.17, 13.64, -67.94) |
| 5:16670931 | rs531137935 | R>C | B:1863 | (10.17, 13.64, -67.94) |
| 5:16670765 | rs545077121 | S>Y | B:1918 | (24.48, 5.59, -74.61) |
| 5:16670760 | A>P | B:1920 | (24.12, 3.24, -69.52) | |
| 5:16670756 | rs374423758 | R>Q | B:1921 | (24.08, -0.05, -74.44) |
| 5:16670757 | rs147905272 | R>G | B:1921 | (24.08, -0.05, -74.44) |
| 5:16670753 | A>V | B:1922 | (28.12, 1.46, -71.83) | |
| 5:16670744 | rs370105389 | I>S | B:1925 | (28.21, -3.57, -72.01) |
| 5:16670730 | K>E | B:1930 | (34.22, -6.63, -65.37) | |
| 5:16670716 | M>I | B:1934 | (29.46, -15.40, -63.82) | |
| 5:16670717 | M>T | B:1934 | (29.46, -15.40, -63.82) | |
| 5:16670699 | M>T | B:1940 | (20.67, -16.16, -59.41) | |
| 5:16670700 | rs377732281 | M>L | B:1940 | (20.67, -16.16, -59.41) |
| 5:16670697 | A>T | B:1941 | (23.81, -15.03, -56.17) | |
| 5:16670694 | rs567402631 | K>Q | B:1942 | (27.01, -12.10, -57.00) |
| 5:16670686 | M>I | B:1944 | (19.44, -11.80, -54.68) | |
| 5:16670681 | rs148742178 | L>S | B:1946 | (23.52, -6.39, -54.90) |
| 5:16670671 | E>D | B:1949 | (23.55, -4.61, -50.30) | |
| 5:16670660 | Y>C | B:1953 | (14.34, -8.15, -50.36) | |
| 5:16670654 | S>L | B:1955 | (9.14, -4.63, -48.91) | |
| 5:16670651 | T>M | B:1956 | (5.34, -3.98, -50.96) | |
| 5:16670640 | V>M | B:1960 | (1.88, 7.51, -51.53) | |
| 5:16668559 | P>S | B:1968 | (7.47, 14.67, -48.58) | |
| 5:16668550 | L>F | B:1971 | (5.62, 9.30, -50.34) | |
| 5:16668540 | G>A | B:1974 | (6.36, 0.22, -46.92) | |
| 5:16668541 | G>R | B:1974 | (6.36, 0.22, -46.92) | |
| 5:16668538 | V>I | B:1975 | (4.45, -3.10, -46.53) | |
| 5:16668531 | rs200219901 | A>V | B:1977 | (7.14, -8.17, -41.76) |
| 5:16668532 | A>T | B:1977 | (7.14, -8.17, -41.76) | |
| 5:16668529 | D>N | B:1978 | (9.28, -6.13, -39.39) | |
| 5:16668526 | rs190137500 | A>T | B:1979 | (6.96, -2.66, -40.92) |
| 5:16668523 | rs372353260 | V>I | B:1980 | (4.76, 0.39, -42.35) |
| 5:16668519 | S>C | B:1981 | (7.77, 2.39, -44.02) | |
| 5:16668517 | rs186433188 | V>I | B:1982 | (7.62, 6.55, -45.06) |
| 5:16668507 | rs369799275 COSM3248219 |
R>H | B:1985 | (8.41, 7.93, -54.63) |
| 5:16668508 | COSM3853434 COSM3853433 |
R>C | B:1985 | (8.41, 7.93, -54.63) |
| 5:16668505 | G>R | B:1986 | (14.15, 6.92, -53.83) | |
| 5:16668441 | A>V | B:2007 | (-11.83, 5.58, -51.68) | |
| 5:16668439 | N>H | B:2008 | (-8.83, 7.04, -52.86) | |
| 5:16668435 | COSM1065419 | T>M | B:2009 | (-7.96, 7.65, -47.88) |
| 5:16668424 | V>M | B:2013 | (-2.80, 5.95, -35.95) | |
| 5:16668407 | E>D | B:2018 | (-4.58, 12.64, -37.75) | |
| 5:16668403 | rs202117220 | L>V | B:2020 | (-3.87, 11.04, -44.72) |
| 5:16668390 | rs77404051 | S>T | B:2024 | (-4.93, 3.89, -55.44) |
| 5:16666886 | rs370694777 | K>R | B:2031 | (-5.51, -6.89, -48.78) |
| 5:16666869 | I>L | B:2037 | (-0.59, -8.26, -38.75) | |
| 5:16666847 | R>H | B:2044 | (3.55, -13.66, -30.84) | |
| 5:16666848 | R>C | B:2044 | (3.55, -13.66, -30.84) | |
| 5:16666845 | Y>H | B:2045 | (-1.47, -16.47, -30.17) | |
| 5:16666838 | rs367593755 | T>M | B:2047 | (5.61, -19.16, -29.67) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:16676199 | COSM3786904 | T>I | B:1536 | (-45.39, -20.75, -75.05) |
| 5:16675209 | COSM3248261 | F>L | B:1573 | (-40.48, -14.87, -72.52) |
| 5:16673975 | COSM4159701 | S>T | B:1663 | (-31.29, -36.81, -72.66) |
| 5:16672849 | COSM1619994 | K>I | B:1753 | (-4.97, -5.84, -57.61) |
| 5:16668423 | COSM3248215 | V>A | B:2013 | (-2.80, 5.95, -35.95) |