General Structure Information
| PDB ID | 3rc8 |
| HGNC Gene Label(s) | SUPV3L1 |
| Structure Name | human mitochondrial helicase suv3 in complex with short rna fragment |
| Resolution | 2.9Å |
| Reference | AUTH R.JEDRZEJCZAK,J.WANG,M.DAUTER,R.J.SZCZESNY,P.P.STEPIEN,AUTH 2 Z.DAUTERTITL HUMAN SUV3 PROTEIN REVEALS UNIQUE FEATURES AMONG SF2TITL 2 HELICASES.REF ACTA CRYSTALLOGR.,SECT.D V. 67 988 2011REFN ISSN 0907-4449PMID 22101826DOI 10.1107/S0907444911040248 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 610 |
| Number Of SNVs | 116 |
| Number Of Permutations | 40765 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.153 |
| p-value | 0.007 |
COSMIC
| Number Of Residues | 610 |
| Number Of SNVs | 5 |
| Number Of Permutations | 256 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.3 |
| p-value | 0.126 |
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 | 0.479 |
| p-value | 0.056 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:70940220 | I>T | A:58 | (-7.99, 76.03, 37.48) | |
| 10:70940223 | rs570536665 | P>L | A:59 | (-8.30, 72.25, 36.44) |
| 10:70940232 | S>F | A:62 | (-10.13, 70.00, 27.75) | |
| 10:70940237 | F>L | A:64 | (-10.81, 66.14, 32.04) | |
| 10:70940239 | F>L | A:64 | (-10.81, 66.14, 32.04) | |
| 10:70940240 | V>L | A:65 | (-11.74, 61.88, 27.73) | |
| 10:70940244 | P>L | A:66 | (-15.49, 61.73, 27.86) | |
| 10:70940264 | rs201283581 | G>S | A:73 | (-31.75, 46.88, 30.66) |
| 10:70940306 | P>S | A:87 | (-45.43, 55.44, 37.22) | |
| 10:70940307 | COSM919866 | P>L | A:87 | (-45.43, 55.44, 37.22) |
| 10:70940315 | K>E | A:90 | (-40.40, 59.66, 29.43) | |
| 10:70940316 | K>M | A:90 | (-40.40, 59.66, 29.43) | |
| 10:70940317 | K>N | A:90 | (-40.40, 59.66, 29.43) | |
| 10:70940318 | N>D | A:91 | (-43.23, 64.70, 27.54) | |
| 10:70945754 | K>E | A:95 | (-40.74, 69.95, 30.24) | |
| 10:70945757 | V>F | A:96 | (-37.66, 68.72, 34.91) | |
| 10:70945820 | rs183855905 | A>S | A:117 | (-19.40, 74.30, 31.26) |
| 10:70946202 | R>H | A:118 | (-15.92, 71.33, 28.11) | |
| 10:70946233 | R>S | A:128 | (-31.31, 64.89, 28.08) | |
| 10:70946235 | N>T | A:129 | (-29.62, 60.40, 26.88) | |
| 10:70946238 | Y>C | A:130 | (-29.30, 56.70, 32.62) | |
| 10:70946243 | M>L | A:132 | (-35.39, 59.83, 28.50) | |
| 10:70946276 | I>V | A:143 | (-38.95, 58.05, 44.16) | |
| 10:70946300 | rs568133891 | G>S | A:151 | (-44.93, 67.75, 43.71) |
| 10:70947418 | P>S | A:160 | (-27.72, 64.52, 43.97) | |
| 10:70947421 | rs141575091 | F>I | A:161 | (-29.67, 61.23, 41.87) |
| 10:70947445 | I>V | A:169 | (-18.47, 60.71, 32.60) | |
| 10:70947478 | rs374901378 | R>C | A:180 | (-4.06, 68.73, 43.53) |
| 10:70947479 | R>H | A:180 | (-4.06, 68.73, 43.53) | |
| 10:70949027 | P>A | A:193 | (17.99, 60.93, 50.62) | |
| 10:70949040 | rs370504359 | A>V | A:197 | (23.42, 62.72, 54.07) |
| 10:70949042 | rs374960041 | M>V | A:198 | (26.86, 63.53, 51.55) |
| 10:70949043 | M>T | A:198 | (26.86, 63.53, 51.55) | |
| 10:70949054 | I>L | A:202 | (29.57, 72.33, 44.07) | |
| 10:70949111 | Y>H | A:221 | (37.24, 60.62, 36.92) | |
| 10:70949123 | K>Q | A:225 | (40.30, 56.83, 46.02) | |
| 10:70949135 | Y>D | A:229 | (31.80, 61.75, 32.25) | |
| 10:70949162 | H>Y | A:238 | (31.98, 55.30, 24.35) | |
| 10:70949174 | COSM3807552 | E>K | A:242 | (38.00, 54.70, 25.06) |
| 10:70949178 | K>R | A:243 | (40.55, 59.45, 27.31) | |
| 10:70949187 | A>V | A:246 | (44.52, 54.44, 28.92) | |
| 10:70951412 | rs146272231 | G>D | A:248 | (45.05, 53.19, 34.14) |
| 10:70951423 | D>N | A:252 | (32.99, 50.39, 34.32) | |
| 10:70951451 | T>R | A:261 | (32.52, 45.06, 32.97) | |
| 10:70951462 | rs142675668 | N>D | A:265 | (35.70, 39.20, 38.41) |
| 10:70951472 | Q>R | A:268 | (30.99, 47.62, 40.19) | |
| 10:70951481 | H>R | A:271 | (36.72, 55.19, 38.29) | |
| 10:70951510 | V>I | A:281 | (21.62, 58.52, 42.83) | |
| 10:70954977 | rs373688153 | I>S | A:296 | (19.78, 71.76, 33.53) |
| 10:70954985 | P>S | A:299 | (13.40, 71.12, 26.66) | |
| 10:70955013 | rs150553861 | A>V | A:308 | (22.88, 64.50, 38.82) |
| 10:70956753 | rs551248547 | C>R | A:313 | (26.68, 60.40, 46.32) |
| 10:70956757 | rs370698537 | A>V | A:314 | (29.75, 63.06, 45.59) |
| 10:70956790 | A>V | A:325 | (24.54, 78.18, 34.32) | |
| 10:70956793 | I>T | A:326 | (26.79, 80.24, 37.19) | |
| 10:70956820 | T>I | A:335 | (17.94, 74.73, 48.13) | |
| 10:70956822 | T>A | A:336 | (21.19, 71.97, 48.84) | |
| 10:70956823 | T>M | A:336 | (21.19, 71.97, 48.84) | |
| 10:70958165 | L>P | A:354 | (36.37, 86.62, 8.81) | |
| 10:70958176 | L>V | A:358 | (33.62, 81.15, 0.98) | |
| 10:70958197 | rs527626577 COSM1228024 |
R>W | A:365 | (41.46, 77.65, 3.45) |
| 10:70958198 | rs376727615 | R>Q | A:365 | (41.46, 77.65, 3.45) |
| 10:70958215 | V>I | A:371 | (28.06, 74.16, 8.89) | |
| 10:70958236 | I>V | A:378 | (25.43, 67.66, 3.51) | |
| 10:70958245 | rs529822050 | V>M | A:381 | (28.37, 71.07, -0.57) |
| 10:70958251 | rs372218148 | R>W | A:383 | (28.20, 66.05, -6.77) |
| 10:70958266 | R>W | A:388 | (34.81, 72.99, -7.79) | |
| 10:70958269 | rs374621272 | G>R | A:389 | (38.70, 67.89, -7.35) |
| 10:70958288 | I>T | A:395 | (30.12, 64.60, 10.00) | |
| 10:70958306 | P>L | A:401 | (29.35, 55.44, 16.02) | |
| 10:70958881 | K>R | A:409 | (41.23, 58.93, 11.81) | |
| 10:70958899 | rs199507911 | N>S | A:415 | (49.83, 61.98, 5.94) |
| 10:70958904 | rs375180008 | P>T | A:417 | (44.31, 64.43, 1.09) |
| 10:70958934 | rs148715762 | I>V | A:427 | (30.24, 69.60, 14.80) |
| 10:70960057 | F>L | A:440 | (27.93, 79.18, 9.78) | |
| 10:70960062 | S>C | A:442 | (23.01, 78.88, 6.42) | |
| 10:70960067 | rs565635337 | I>L | A:444 | (17.90, 79.45, 8.62) |
| 10:70960112 | rs147879097 | I>V | A:459 | (21.33, 80.32, 14.42) |
| 10:70960137 | I>T | A:467 | (29.22, 75.87, 15.81) | |
| 10:70960160 | rs368918225 | S>G | A:475 | (49.86, 75.02, 14.68) |
| 10:70960166 | R>W | A:477 | (52.98, 81.76, 11.04) | |
| 10:70960167 | R>P | A:477 | (52.98, 81.76, 11.04) | |
| 10:70960191 | T>I | A:485 | (29.05, 83.34, 6.04) | |
| 10:70960193 | rs544531916 | M>V | A:486 | (28.86, 80.69, 1.71) |
| 10:70960197 | N>S | A:487 | (26.42, 83.89, 1.25) | |
| 10:70960204 | rs376288995 | E>D | A:489 | (23.09, 87.77, 1.65) |
| 10:70960224 | E>G | A:496 | (23.41, 91.06, 14.80) | |
| 10:70962198 | rs200804338 | A>T | A:508 | (15.47, 73.03, 35.85) |
| 10:70962216 | A>S | A:514 | (6.82, 55.59, 36.76) | |
| 10:70962225 | rs542151671 | I>F | A:517 | (2.28, 57.82, 35.78) |
| 10:70962241 | rs201057336 | Y>C | A:522 | (-3.26, 52.12, 40.39) |
| 10:70962249 | P>S | A:525 | (-8.37, 53.32, 35.13) | |
| 10:70962258 | T>A | A:528 | (-4.85, 57.05, 27.57) | |
| 10:70962265 | S>C | A:530 | (-1.11, 60.21, 26.35) | |
| 10:70962678 | D>V | A:552 | (6.00, 65.48, 22.67) | |
| 10:70962705 | rs186986209 | I>T | A:561 | (2.00, 51.15, 21.84) |
| 10:70962706 | I>M | A:561 | (2.00, 51.15, 21.84) | |
| 10:70962723 | S>T | A:567 | (1.61, 46.62, 32.00) | |
| 10:70962729 | COSM3764260 | R>Q | A:569 | (5.90, 49.93, 36.10) |
| 10:70962750 | T>I | A:576 | (11.21, 55.55, 27.68) | |
| 10:70962763 | N>K | A:580 | (13.75, 58.83, 14.85) | |
| 10:70962765 | K>R | A:581 | (9.20, 60.57, 15.84) | |
| 10:70962782 | C>S | A:587 | (7.92, 52.85, 14.25) | |
| 10:70962785 | S>A | A:588 | (7.36, 49.15, 12.58) | |
| 10:70967597 | rs201773412 | R>C | A:609 | (19.37, 36.45, 10.83) |
| 10:70967601 | rs574864266 | R>L | A:610 | (13.74, 35.32, 10.29) |
| 10:70967610 | rs141062949 | K>R | A:613 | (14.65, 41.67, 5.19) |
| 10:70967612 | W>R | A:614 | (22.00, 40.33, 7.60) | |
| 10:70967628 | P>L | A:619 | (25.08, 51.04, -0.30) | |
| 10:70967661 | A>G | A:630 | (17.35, 52.37, 10.27) | |
| 10:70967669 | rs150112121 | D>N | A:633 | (18.52, 53.22, 14.67) |
| 10:70967696 | S>R | A:642 | (18.20, 44.06, 26.57) | |
| 10:70968358 | Y>C | A:643 | (20.72, 46.15, 28.96) | |
| 10:70968361 | rs202133775 | R>Q | A:644 | (15.79, 48.28, 30.26) |
| 10:70968366 | M>L | A:646 | (16.85, 40.21, 30.49) | |
| 10:70968369 | D>N | A:647 | (13.75, 36.98, 29.56) | |
| 10:70968372 | M>V | A:648 | (11.25, 38.55, 25.82) | |
| 10:70968382 | rs200270601 | D>G | A:651 | (20.11, 36.99, 21.84) |
| 10:70968426 | rs145201445 | I>V | A:666 | (27.22, 52.30, 6.95) |
| 10:70968430 | Q>R | A:667 | (32.72, 52.93, 7.52) | |
| 10:70968445 | N>S | A:672 | (32.08, 55.35, -1.32) | |
| 10:70968450 | T>P | A:674 | (30.36, 60.88, -3.81) | |
| 10:70968463 | K>T | A:678 | (27.00, 60.40, -8.88) | |
| 10:70968469 | S>F | A:680 | (20.51, 59.83, -5.95) | |
| 10:70968475 | T>M | A:682 | (21.72, 60.62, -11.87) | |
| 10:70968478 | H>R | A:683 | (19.67, 57.03, -12.13) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:70945799 | COSM4179920 | G>S | A:110 | (-21.49, 72.37, 39.93) |
| 10:70947436 | COSM216362 | A>T | A:166 | (-20.56, 62.91, 36.43) |
| 10:70947464 | COSM1196250 | C>F | A:175 | (-9.42, 62.59, 42.46) |
| 10:70947501 | COSM919871 | I>M | A:187 | (11.54, 70.39, 47.76) |
| 10:70962731 | COSM1187956 | V>M | A:570 | (5.83, 47.35, 30.35) |