General Structure Information
| PDB ID | 2iwz |
| HGNC Gene Label(s) | OXSM |
| Structure Name | human mitochondrial beta-ketoacyl acp synthase complexed with hexanoic acid |
| Resolution | 1.65Å |
| Reference | AUTH C.E.CHRISTENSEN,B.B.KRAGELUND,P.VON WETTSTEIN-KNOWLES,AUTH 2 A.HENRIKSENTITL STRUCTURE OF THE HUMAN BETA-KETOACYL [ACP] SYNTHASE FROMTITL 2 THE MITOCHONDRIAL TYPE II FATTY ACID SYNTHASE.REF PROTEIN SCI. V. 16 261 2007REFN ISSN 0961-8368PMID 17242430DOI 10.1110/PS.062473707 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 422 |
| Number Of SNVs | 121 |
| Number Of Permutations | 24386 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.018 |
| p-value | 0.75 |
COSMIC
| Number Of Residues | 422 |
| Number Of SNVs | 9 |
| Number Of Permutations | 1397 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.083 |
| p-value | 0.274 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 121 |
| Number Of COSMIC SNVs | 9 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.066 |
| p-value | 0.422 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:25832633 | H>R | B:41 | (-3.06, 30.53, 13.80) | |
| 3:25832639 | R>Q | B:43 | (-7.64, 25.01, 17.44) | |
| 3:25832647 | I>V | B:46 | (-2.64, 21.97, 27.34) | |
| 3:25832669 | T>I | B:53 | (6.34, 22.58, 43.61) | |
| 3:25832674 | rs573301220 | L>V | B:55 | (2.63, 22.62, 47.15) |
| 3:25832687 | T>N | B:59 | (0.20, 17.94, 38.55) | |
| 3:25832690 | H>R | B:60 | (-3.07, 15.83, 39.13) | |
| 3:25832691 | H>Q | B:60 | (-3.07, 15.83, 39.13) | |
| 3:25832713 | rs202016313 COSM479997 |
G>R | B:68 | (-6.82, 22.94, 50.26) |
| 3:25832717 | G>E | B:69 | (-4.79, 25.42, 51.28) | |
| 3:25832729 | I>T | B:73 | (5.87, 29.42, 52.75) | |
| 3:25832730 | I>M | B:73 | (5.87, 29.42, 52.75) | |
| 3:25832731 | rs201690414 | V>L | B:74 | (9.32, 27.65, 55.17) |
| 3:25832753 | rs142653321 | Y>C | B:81 | (20.10, 32.43, 55.04) |
| 3:25832756 | rs375858422 | K>R | B:82 | (23.14, 35.58, 60.73) |
| 3:25832759 | S>I | B:83 | (22.06, 39.79, 57.92) | |
| 3:25832761 | rs143066680 | I>L | B:84 | (19.33, 38.52, 55.27) |
| 3:25832767 | C>R | B:86 | (14.32, 37.63, 54.53) | |
| 3:25832779 | A>T | B:90 | (9.87, 28.16, 49.09) | |
| 3:25832782 | Y>H | B:91 | (13.18, 25.69, 50.37) | |
| 3:25832810 | Q>R | B:100 | (9.06, 13.96, 48.68) | |
| 3:25832820 | E>D | B:103 | (17.88, 14.91, 42.25) | |
| 3:25832824 | N>D | B:105 | (13.85, 9.26, 40.50) | |
| 3:25832837 | rs150811011 | K>T | B:109 | (25.03, 9.64, 41.58) |
| 3:25832846 | I>T | B:112 | (23.89, 15.48, 39.87) | |
| 3:25832849 | K>R | B:113 | (29.40, 16.18, 38.42) | |
| 3:25832863 | P>S | B:118 | (17.65, 24.60, 37.78) | |
| 3:25832869 | I>V | B:120 | (17.98, 18.61, 37.91) | |
| 3:25832879 | I>T | B:123 | (14.95, 16.94, 33.61) | |
| 3:25832885 | A>D | B:125 | (8.95, 18.31, 34.95) | |
| 3:25832890 | COSM1753144 | E>Q | B:127 | (10.03, 12.37, 33.29) |
| 3:25832947 | rs150601765 | T>A | B:146 | (8.89, 17.48, 19.50) |
| 3:25832951 | rs561407254 | G>V | B:147 | (10.00, 20.71, 21.19) |
| 3:25832962 | G>C | B:151 | (13.19, 28.75, 31.09) | |
| 3:25832974 | I>F | B:155 | (22.76, 32.51, 36.84) | |
| 3:25832975 | I>T | B:155 | (22.76, 32.51, 36.84) | |
| 3:25832978 | rs201522040 | P>R | B:156 | (23.57, 29.22, 38.74) |
| 3:25832995 | E>Q | B:162 | (32.05, 26.71, 44.12) | |
| 3:25832999 | rs543480319 | T>I | B:163 | (34.04, 28.02, 40.18) |
| 3:25833007 | N>D | B:166 | (38.37, 26.28, 42.55) | |
| 3:25833008 | N>S | B:166 | (38.37, 26.28, 42.55) | |
| 3:25833019 | K>E | B:170 | (42.30, 25.31, 44.00) | |
| 3:25833028 | N>D | B:173 | (43.72, 22.38, 35.92) | |
| 3:25833047 | F>Y | B:179 | (31.62, 26.79, 34.78) | |
| 3:25833065 | V>G | B:185 | (19.76, 30.05, 30.91) | |
| 3:25833079 | G>C | B:190 | (18.87, 20.98, 26.28) | |
| 3:25833089 | S>T | B:193 | (16.45, 17.85, 23.97) | |
| 3:25833094 | rs147184138 | R>G | B:195 | (18.34, 13.32, 29.52) |
| 3:25833095 | COSM3427495 | R>P | B:195 | (18.34, 13.32, 29.52) |
| 3:25833115 | rs189087941 | N>D | B:202 | (16.07, 24.57, 21.25) |
| 3:25833117 | rs552836917 | N>K | B:202 | (16.07, 24.57, 21.25) |
| 3:25833121 | A>S | B:204 | (15.30, 29.98, 25.77) | |
| 3:25833122 | A>V | B:204 | (15.30, 29.98, 25.77) | |
| 3:25833124 | V>I | B:205 | (13.13, 32.62, 27.51) | |
| 3:25833134 | A>G | B:208 | (12.42, 37.21, 34.79) | |
| 3:25833148 | rs565892479 | A>T | B:213 | (4.75, 32.92, 30.14) |
| 3:25833153 | H>Q | B:214 | (7.38, 35.19, 27.62) | |
| 3:25833178 | rs372030404 | I>L | B:223 | (2.39, 24.81, 17.64) |
| 3:25833190 | D>N | B:227 | (7.63, 25.79, 13.59) | |
| 3:25833199 | rs367729315 | V>M | B:230 | (4.73, 18.88, 20.24) |
| 3:25833202 | rs145242561 | M>V | B:231 | (6.60, 22.54, 22.14) |
| 3:25833203 | M>T | B:231 | (6.60, 22.54, 22.14) | |
| 3:25833209 | A>V | B:233 | (6.86, 24.16, 27.98) | |
| 3:25833212 | G>V | B:234 | (8.66, 26.40, 30.52) | |
| 3:25833217 | T>A | B:236 | (13.38, 26.63, 35.90) | |
| 3:25833223 | S>P | B:238 | (16.99, 26.79, 41.93) | |
| 3:25833226 | C>R | B:239 | (18.25, 30.57, 43.31) | |
| 3:25833235 | rs377136385 | P>S | B:242 | (22.60, 33.43, 51.05) |
| 3:25833241 | S>P | B:244 | (19.86, 35.50, 46.36) | |
| 3:25833244 | rs372644482 | L>F | B:245 | (17.71, 35.92, 49.73) |
| 3:25833247 | A>S | B:246 | (20.58, 39.68, 49.53) | |
| 3:25833248 | A>V | B:246 | (20.58, 39.68, 49.53) | |
| 3:25833251 | G>V | B:247 | (19.55, 41.00, 46.59) | |
| 3:25833259 | R>G | B:250 | (20.21, 46.11, 49.62) | |
| 3:25833260 | R>T | B:250 | (20.21, 46.11, 49.62) | |
| 3:25833266 | rs182478011 | R>Q | B:252 | (13.49, 47.58, 49.87) |
| 3:25833269 | rs535960613 | A>G | B:253 | (11.36, 42.56, 47.06) |
| 3:25833271 | L>V | B:254 | (12.01, 39.96, 49.65) | |
| 3:25833280 | COSM2155029 | N>Y | B:257 | (6.90, 38.41, 58.05) |
| 3:25833288 | D>E | B:259 | (4.98, 34.15, 60.26) | |
| 3:25833292 | K>Q | B:261 | (1.47, 30.56, 59.19) | |
| 3:25833294 | K>N | B:261 | (1.47, 30.56, 59.19) | |
| 3:25833305 | R>Q | B:265 | (-0.13, 38.99, 54.07) | |
| 3:25833314 | H>R | B:268 | (-3.44, 41.71, 53.61) | |
| 3:25833320 | rs75506928 | K>R | B:270 | (-0.61, 43.61, 57.25) |
| 3:25833326 | D>G | B:272 | (5.82, 42.82, 53.34) | |
| 3:25833334 | V>I | B:275 | (8.16, 34.62, 49.30) | |
| 3:25833345 | rs150125529 | E>D | B:278 | (12.65, 26.06, 44.73) |
| 3:25833371 | E>G | B:287 | (-2.22, 20.37, 16.48) | |
| 3:25833379 | H>N | B:290 | (-0.84, 15.40, 17.12) | |
| 3:25833397 | A>S | B:296 | (-5.40, 12.88, 24.04) | |
| 3:25833401 | rs143704103 | R>Q | B:297 | (-5.82, 14.11, 29.73) |
| 3:25833403 | I>V | B:298 | (-7.49, 17.79, 25.78) | |
| 3:25833407 | Y>C | B:299 | (-5.53, 18.99, 31.05) | |
| 3:25833416 | V>D | B:302 | (-3.81, 28.18, 24.12) | |
| 3:25833430 | rs371504078 | L>F | B:307 | (3.55, 40.49, 24.70) |
| 3:25833431 | L>P | B:307 | (3.55, 40.49, 24.70) | |
| 3:25833436 | G>S | B:309 | (5.99, 47.36, 28.29) | |
| 3:25833445 | G>R | B:312 | (9.80, 52.80, 33.45) | |
| 3:25833463 | D>H | B:318 | (2.80, 51.42, 35.75) | |
| 3:25833487 | R>W | B:326 | (-0.19, 47.90, 27.26) | |
| 3:25835587 | M>V | B:328 | (-4.63, 41.90, 30.06) | |
| 3:25835611 | G>S | B:336 | (-11.09, 36.70, 20.26) | |
| 3:25835619 | Q>H | B:338 | (-14.66, 40.50, 23.87) | |
| 3:25835631 | I>M | B:342 | (-12.80, 36.52, 31.10) | |
| 3:25835635 | Y>H | B:344 | (-9.35, 32.63, 37.17) | |
| 3:25835642 | rs373026284 | N>S | B:346 | (-3.77, 33.55, 38.03) |
| 3:25835662 | P>S | B:353 | (2.89, 47.03, 48.22) | |
| 3:25835674 | COSM583242 | A>T | B:357 | (-2.30, 47.71, 43.21) |
| 3:25835698 | H>Y | B:365 | (-8.94, 50.78, 32.99) | |
| 3:25835719 | Y>N | B:372 | (-16.94, 44.47, 40.46) | |
| 3:25835731 | V>I | B:376 | (-9.11, 37.28, 40.90) | |
| 3:25835732 | V>A | B:376 | (-9.11, 37.28, 40.90) | |
| 3:25835743 | rs141256550 | K>E | B:380 | (2.53, 33.69, 44.19) |
| 3:25835744 | K>R | B:380 | (2.53, 33.69, 44.19) | |
| 3:25835746 | G>R | B:381 | (0.83, 31.66, 49.00) | |
| 3:25835765 | L>Q | B:387 | (11.20, 33.43, 40.22) | |
| 3:25835773 | A>P | B:390 | (5.69, 31.46, 37.84) | |
| 3:25835785 | COSM3774885 | E>K | B:394 | (0.90, 30.86, 37.83) |
| 3:25835820 | Q>H | B:405 | (-15.52, 24.79, 35.71) | |
| 3:25835846 | D>V | B:414 | (-8.23, 38.15, 56.66) | |
| 3:25835852 | S>L | B:416 | (-9.51, 44.25, 52.24) | |
| 3:25835860 | rs151328335 | E>Q | B:419 | (-7.81, 49.56, 46.56) |
| 3:25835873 | rs201000794 | N>S | B:423 | (-13.82, 37.40, 44.01) |
| 3:25835876 | Y>C | B:424 | (-9.55, 39.50, 45.24) | |
| 3:25835894 | rs377612765 | Q>R | B:430 | (-14.63, 29.96, 44.77) |
| 3:25835897 | E>G | B:431 | (-16.90, 25.36, 42.86) | |
| 3:25835912 | K>R | B:436 | (-21.53, 30.64, 28.62) | |
| 3:25835917 | F>L | B:438 | (-13.57, 28.69, 32.44) | |
| 3:25835920 | I>V | B:439 | (-12.34, 32.03, 29.11) | |
| 3:25835933 | COSM125092 | N>S | B:443 | (-1.22, 37.97, 34.51) |
| 3:25835936 | S>C | B:444 | (3.37, 37.41, 34.16) | |
| 3:25835963 | T>I | B:453 | (-1.21, 37.64, 29.29) | |
| 3:25835966 | L>P | B:454 | (-1.30, 33.30, 28.75) | |
| 3:25835978 | rs376248677 | G>E | B:458 | (-12.04, 25.28, 27.64) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:25832704 | COSM257657 | R>C | B:65 | (-0.74, 19.05, 48.55) |
| 3:25832776 | COSM1670015 | A>T | B:89 | (11.11, 30.43, 51.82) |
| 3:25832827 | COSM1422222 | F>L | B:106 | (13.84, 12.40, 37.56) |
| 3:25832842 | COSM1753143 | D>H | B:111 | (24.20, 13.47, 35.03) |
| 3:25832890 | COSM1753144 | E>Q | B:127 | (10.03, 12.37, 33.29) |
| 3:25832901 | COSM1753145 | M>I | B:130 | (6.52, 13.75, 28.36) |
| 3:25832912 | COSM1753146 | G>A | B:134 | (1.85, 10.32, 26.28) |
| 3:25833460 | COSM1485074 | P>T | B:317 | (5.46, 48.76, 39.09) |
| 3:25835638 | COSM1617448 | I>V | B:345 | (-7.75, 36.69, 36.42) |