General Structure Information
| PDB ID | 2yf0 |
| HGNC Gene Label(s) | MTMR6 |
| Structure Name | human myotubularin related protein 6 (mtmr6) |
| Resolution | 2.65Å |
| Reference | AUTH M.MOCHE,L.TRESAUGUES,C.H.ARROWSMITH,H.BERGLUND,C.BOUNTRA,AUTH 2 R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,S.GRASLUND,AUTH 3 M.HAMMARSTROM,I.JOHANSSON,T.KARLBERG,T.KOTENYOVA,AUTH 4 E.KOUZNETSOVA,T.NYMAN,C.PERSSON,H.SCHULER,P.SCHUTZ,AUTH 5 M.I.SIPONEN,A.G.THORSELL,S.VANDENBERG,E.WAHLBERG,J.WEIGELT,AUTH 6 M.WELIN,P.NORDLUNDTITL CRYSTAL STRUCTURE OF HUMAN MTMR6REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 487 |
| Number Of SNVs | 116 |
| Number Of Permutations | 38788 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.024 |
| p-value | 0.295 |
COSMIC
| Number Of Residues | 487 |
| Number Of SNVs | 5 |
| Number Of Permutations | 126 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.2 |
| p-value | 0.712 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 116 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 35.0 |
| K Statistic | 0.441 |
| p-value | 0.225 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 13:25861375 | I>T | A:4 | (-43.31, -10.03, 69.34) | |
| 13:25861372 | R>Q | A:5 | (-41.75, -16.08, 70.63) | |
| 13:25861369 | rs370445501 | T>K | A:6 | (-47.23, -15.58, 69.73) |
| 13:25861363 | K>R | A:8 | (-50.79, -22.76, 72.07) | |
| 13:25861364 | K>Q | A:8 | (-50.79, -22.76, 72.07) | |
| 13:25848322 | rs373972921 | E>K | A:10 | (-54.72, -22.55, 65.64) |
| 13:25848277 | L>V | A:25 | (-51.82, -26.63, 62.95) | |
| 13:25848273 | T>R | A:26 | (-50.41, -25.67, 66.54) | |
| 13:25848255 | T>M | A:32 | (-40.03, -9.00, 62.01) | |
| 13:25848235 | I>V | A:39 | (-42.51, -21.97, 62.97) | |
| 13:25848230 | D>E | A:40 | (-45.71, -26.08, 62.10) | |
| 13:25848232 | rs376766637 | D>N | A:40 | (-45.71, -26.08, 62.10) |
| 13:25848226 | rs542253884 | H>Y | A:42 | (-44.36, -30.86, 62.48) |
| 13:25842030 | S>Y | A:64 | (-60.87, -20.37, 70.58) | |
| 13:25842025 | rs373692629 | C>G | A:66 | (-58.53, -13.37, 68.07) |
| 13:25842016 | rs73168506 | V>L | A:69 | (-57.88, -12.21, 58.41) |
| 13:25841991 | T>I | A:77 | (-56.59, -15.65, 52.35) | |
| 13:25841979 | rs150067703 | I>T | A:81 | (-56.73, -18.36, 65.89) |
| 13:25841980 | I>F | A:81 | (-56.73, -18.36, 65.89) | |
| 13:25841965 | rs374866327 | R>G | A:86 | (-52.13, -8.64, 75.96) |
| 13:25841960 | D>E | A:87 | (-50.99, -11.00, 72.10) | |
| 13:25841952 | rs564587516 | D>G | A:90 | (-50.06, -5.77, 69.78) |
| 13:25841953 | rs144877646 | D>N | A:90 | (-50.06, -5.77, 69.78) |
| 13:25841922 | K>I | A:100 | (-48.87, 1.85, 55.80) | |
| 13:25840412 | D>G | A:106 | (-49.29, 10.18, 52.35) | |
| 13:25840386 | K>E | A:115 | (-58.39, 28.76, 57.68) | |
| 13:25840379 | rs201090774 | N>S | A:117 | (-63.50, 29.12, 52.47) |
| 13:25840376 | D>G | A:118 | (-63.46, 25.89, 50.07) | |
| 13:25840377 | D>Y | A:118 | (-63.46, 25.89, 50.07) | |
| 13:25840374 | S>T | A:119 | (-64.03, 29.84, 47.45) | |
| 13:25840347 | I>F | A:128 | (-53.66, 29.98, 35.33) | |
| 13:25840338 | rs34885345 | A>T | A:131 | (-57.94, 29.60, 26.83) |
| 13:25840328 | COSM550970 | Y>C | A:134 | (-53.06, 28.50, 23.37) |
| 13:25840325 | K>R | A:135 | (-56.14, 33.98, 22.93) | |
| 13:25840319 | M>T | A:137 | (-50.53, 34.56, 20.43) | |
| 13:25840301 | H>R | A:143 | (-53.21, 30.34, 9.78) | |
| 13:25840295 | Q>L | A:145 | (-58.49, 24.44, 14.45) | |
| 13:25840289 | S>C | A:147 | (-59.05, 19.63, 18.96) | |
| 13:25840286 | rs201602182 | D>V | A:148 | (-62.84, 17.23, 19.78) |
| 13:25840280 | rs142949277 | N>I | A:150 | (-57.69, 14.70, 24.02) |
| 13:25840277 | rs116067614 | R>Q | A:151 | (-62.25, 15.61, 25.27) |
| 13:25840278 | R>W | A:151 | (-62.25, 15.61, 25.27) | |
| 13:25840275 | D>Y | A:152 | (-62.97, 12.38, 26.87) | |
| 13:25840084 | I>T | A:155 | (-56.13, 10.71, 20.73) | |
| 13:25840082 | C>G | A:156 | (-53.33, 11.32, 24.37) | |
| 13:25840067 | R>G | A:161 | (-60.01, 17.56, 28.64) | |
| 13:25840048 | R>Q | A:167 | (-58.87, 26.17, 11.19) | |
| 13:25840019 | S>R | A:177 | (-50.29, 10.81, 13.92) | |
| 13:25840006 | R>Q | A:181 | (-45.33, 10.51, 16.12) | |
| 13:25840007 | R>W | A:181 | (-45.33, 10.51, 16.12) | |
| 13:25840000 | rs567451807 | K>R | A:183 | (-45.87, 7.25, 24.61) |
| 13:25839992 | F>V | A:186 | (-50.42, 14.78, 18.22) | |
| 13:25839985 | rs553822893 | V>A | A:188 | (-49.09, 19.87, 19.12) |
| 13:25839983 | L>V | A:189 | (-49.38, 24.73, 18.89) | |
| 13:25839973 | Y>C | A:192 | (-48.88, 31.66, 16.23) | |
| 13:25839970 | H>R | A:193 | (-44.47, 34.97, 16.50) | |
| 13:25839965 | rs146343671 | D>N | A:195 | (-46.01, 39.62, 14.39) |
| 13:25839959 | rs142057652 | E>K | A:197 | (-47.29, 34.48, 10.36) |
| 13:25835936 | A>V | A:199 | (-44.32, 27.66, 14.81) | |
| 13:25835916 | P>S | A:206 | (-41.24, 8.94, 14.76) | |
| 13:25835875 | H>Q | A:219 | (-50.68, 14.27, 4.80) | |
| 13:25835876 | H>L | A:219 | (-50.68, 14.27, 4.80) | |
| 13:25835862 | I>V | A:224 | (-47.33, 22.52, 10.47) | |
| 13:25835849 | N>S | A:228 | (-45.52, 29.24, 7.57) | |
| 13:25835847 | rs149526134 | P>A | A:229 | (-47.23, 32.11, 5.42) |
| 13:25835837 | rs565072549 COSM696888 |
R>H | A:232 | (-44.21, 27.17, 2.52) |
| 13:25835826 | rs141278425 | V>I | A:236 | (-36.77, 18.31, 13.09) |
| 13:25835822 | M>T | A:237 | (-34.92, 19.92, 17.32) | |
| 13:25835823 | rs138843894 | M>V | A:237 | (-34.92, 19.92, 17.32) |
| 13:25835819 | D>G | A:238 | (-33.55, 14.51, 17.52) | |
| 13:25832767 | I>V | A:264 | (-38.04, 18.37, 6.85) | |
| 13:25832751 | V>A | A:269 | (-29.90, 18.54, 20.52) | |
| 13:25832745 | I>T | A:271 | (-29.36, 17.21, 24.98) | |
| 13:25832743 | E>K | A:272 | (-26.54, 12.97, 27.05) | |
| 13:25832733 | H>R | A:275 | (-30.67, 7.49, 32.66) | |
| 13:25832727 | M>T | A:277 | (-28.88, 14.49, 33.20) | |
| 13:25831980 | rs191265745 | N>S | A:288 | (-21.33, 20.59, 47.09) |
| 13:25831956 | N>S | A:296 | (-7.81, 22.69, 43.06) | |
| 13:25831947 | rs377589798 | Y>C | A:299 | (-14.34, 24.69, 41.09) |
| 13:25831942 | COSM75480 | G>S | A:301 | (-15.19, 17.57, 39.92) |
| 13:25831936 | E>K | A:303 | (-14.82, 20.23, 35.19) | |
| 13:25831929 | S>L | A:305 | (-19.91, 16.27, 36.35) | |
| 13:25831926 | G>V | A:306 | (-20.68, 17.79, 33.31) | |
| 13:25831917 | rs371573306 COSM1513877 |
R>H | A:309 | (-20.20, 19.14, 28.00) |
| 13:25831914 | H>R | A:310 | (-25.14, 18.11, 30.66) | |
| 13:25831902 | V>A | A:314 | (-29.95, 22.78, 27.22) | |
| 13:25831903 | rs199560173 | V>I | A:314 | (-29.95, 22.78, 27.22) |
| 13:25831899 | M>T | A:315 | (-29.20, 27.53, 26.53) | |
| 13:25831900 | M>V | A:315 | (-29.20, 27.53, 26.53) | |
| 13:25831891 | A>T | A:318 | (-32.88, 27.50, 22.61) | |
| 13:25831888 | rs7995033 | I>V | A:319 | (-29.99, 29.62, 20.89) |
| 13:25831875 | K>R | A:323 | (-31.05, 31.92, 16.04) | |
| 13:25831454 | I>M | A:325 | (-38.50, 31.53, 14.83) | |
| 13:25831456 | I>V | A:325 | (-38.50, 31.53, 14.83) | |
| 13:25831446 | E>A | A:328 | (-34.14, 30.86, 9.42) | |
| 13:25831437 | S>N | A:331 | (-41.99, 26.23, 11.56) | |
| 13:25831438 | S>G | A:331 | (-41.99, 26.23, 11.56) | |
| 13:25831435 | V>M | A:332 | (-39.66, 24.24, 14.77) | |
| 13:25831425 | H>P | A:335 | (-39.09, 14.75, 18.34) | |
| 13:25831394 | Q>H | A:345 | (-35.57, 21.36, 28.88) | |
| 13:25831395 | rs201046935 | Q>P | A:345 | (-35.57, 21.36, 28.88) |
| 13:25831384 | rs367847671 | L>V | A:349 | (-35.37, 27.83, 27.35) |
| 13:25831366 | D>N | A:355 | (-42.50, 36.22, 24.74) | |
| 13:25831356 | Y>C | A:358 | (-44.16, 33.37, 28.23) | |
| 13:25831353 | R>K | A:359 | (-39.01, 37.69, 29.47) | |
| 13:25831336 | rs75005059 | M>V | A:365 | (-47.09, 31.36, 36.75) |
| 13:25828564 | I>M | A:368 | (-44.45, 26.13, 34.18) | |
| 13:25828548 | S>A | A:374 | (-50.51, 20.52, 30.32) | |
| 13:25828536 | K>E | A:378 | (-42.79, 11.66, 33.83) | |
| 13:25828097 | G>A | A:384 | (-40.38, 11.14, 43.86) | |
| 13:25828077 | rs577631883 | K>E | A:391 | (-33.49, 3.20, 36.51) |
| 13:25828074 | E>K | A:392 | (-37.36, 7.46, 36.52) | |
| 13:25828070 | V>G | A:393 | (-35.21, 9.73, 39.02) | |
| 13:25828071 | V>I | A:393 | (-35.21, 9.73, 39.02) | |
| 13:25828026 | T>S | A:408 | (-30.95, 36.24, 35.32) | |
| 13:25828023 | rs139661960 | E>K | A:409 | (-26.81, 36.02, 36.27) |
| 13:25828010 | Q>R | A:413 | (-32.23, 45.26, 33.07) | |
| 13:25828007 | rs79053319 | A>D | A:414 | (-35.21, 41.21, 31.28) |
| 13:25827996 | S>R | A:418 | (-34.75, 36.94, 40.85) | |
| 13:25827981 | COSM432246 COSM312972 |
L>F | A:423 | (-34.53, 29.04, 44.60) |
| 13:25827926 | C>Y | A:441 | (-50.62, 13.63, 33.69) | |
| 13:25827921 | K>E | A:443 | (-55.38, 12.74, 33.60) | |
| 13:25826118 | K>E | A:451 | (-59.19, 20.93, 42.38) | |
| 13:25826082 | E>K | A:463 | (-49.73, 36.65, 48.33) | |
| 13:25826067 | Y>H | A:468 | (-40.34, 36.19, 45.16) | |
| 13:25826049 | S>C | A:474 | (-37.33, 46.78, 32.07) | |
| 13:25826041 | E>D | A:476 | (-41.41, 46.93, 28.84) | |
| 13:25826043 | rs370493335 COSM4046746 |
E>K | A:476 | (-41.41, 46.93, 28.84) |
| 13:25826018 | E>G | A:484 | (-28.89, 37.74, 21.22) | |
| 13:25826016 | COSM3467957 | P>S | A:485 | (-28.06, 34.03, 24.69) |
| 13:25826001 | F>L | A:490 | (-14.41, 30.57, 29.36) | |
| 13:25825900 | rs536417177 | M>V | A:498 | (-29.67, 24.74, 43.27) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 13:25831942 | COSM75480 | G>S | A:301 | (-15.19, 17.57, 39.92) |
| 13:25831888 | COSM147651 | I>V | A:319 | (-29.99, 29.62, 20.89) |
| 13:25828007 | COSM147650 | A>D | A:414 | (-35.21, 41.21, 31.28) |
| 13:25826088 | COSM110035 | L>F | A:461 | (-45.69, 32.89, 44.65) |
| 13:25826045 | COSM1562330 | S>Y | A:475 | (-40.78, 48.59, 31.93) |
| 13:25825896 | COSM2069569 | Y>C | A:499 | (-26.52, 22.91, 45.71) |