General Structure Information
| PDB ID | 1em2 |
| HGNC Gene Label(s) | STARD3 |
| Structure Name | star-related lipid transport domain of mln64 |
| Resolution | 2.2Å |
| Reference | AUTH Y.TSUJISHITA,J.H.HURLEYTITL STRUCTURE AND LIPID TRANSPORT MECHANISM OF A STAR-RELATEDTITL 2 DOMAIN.REF NAT.STRUCT.BIOL. V. 7 408 2000REFN ISSN 1072-8368PMID 10802740DOI 10.1038/75192 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 211 |
| Number Of SNVs | 60 |
| Number Of Permutations | 5876 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.229 |
| p-value | 0.596 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 17:37815354 | A>S | A:233 | (8.10, 51.84, 35.19) | |
| 17:37815717 | rs199983873 | R>W | A:236 | (10.80, 54.21, 33.61) |
| 17:37815726 | rs140449782 | I>V | A:239 | (15.74, 51.63, 29.55) |
| 17:37815729 | rs544183170 COSM1382853 |
R>C | A:240 | (17.05, 51.96, 34.91) |
| 17:37815730 | COSM978643 | R>H | A:240 | (17.05, 51.96, 34.91) |
| 17:37815748 | T>M | A:246 | (26.55, 49.23, 28.38) | |
| 17:37815764 | Q>H | A:251 | (34.38, 48.95, 33.40) | |
| 17:37815796 | E>G | A:262 | (42.03, 31.42, 31.41) | |
| 17:37815803 | N>K | A:264 | (44.31, 28.96, 23.47) | |
| 17:37816477 | rs148897013 | T>I | A:270 | (41.58, 33.92, 23.24) |
| 17:37816506 | rs191775850 | G>S | A:280 | (32.50, 38.42, 39.04) |
| 17:37816509 | K>E | A:281 | (35.24, 34.66, 37.33) | |
| 17:37816510 | K>R | A:281 | (35.24, 34.66, 37.33) | |
| 17:37816512 | T>S | A:282 | (33.79, 37.64, 33.64) | |
| 17:37816513 | T>M | A:282 | (33.79, 37.64, 33.64) | |
| 17:37816525 | K>R | A:286 | (39.86, 38.64, 21.43) | |
| 17:37816691 | L>P | A:289 | (36.27, 37.71, 12.29) | |
| 17:37816694 | rs267604834 | P>L | A:290 | (37.55, 37.13, 8.04) |
| 17:37816702 | rs35673246 | A>P | A:293 | (31.87, 44.82, 11.15) |
| 17:37816703 | rs376382705 | A>V | A:293 | (31.87, 44.82, 11.15) |
| 17:37816711 | rs200494007 | V>M | A:296 | (29.30, 40.45, 12.64) |
| 17:37816727 | I>T | A:301 | (24.58, 42.53, 17.28) | |
| 17:37816738 | E>K | A:305 | (14.77, 35.63, 16.49) | |
| 17:37816741 | R>G | A:306 | (17.39, 35.06, 11.34) | |
| 17:37816743 | R>S | A:306 | (17.39, 35.06, 11.34) | |
| 17:37817063 | rs368208825 | I>V | A:319 | (12.14, 39.09, 20.76) |
| 17:37817070 | rs372826992 COSM3958308 |
Q>R | A:321 | (8.90, 43.64, 25.46) |
| 17:37817075 | V>L | A:323 | (11.77, 49.27, 24.78) | |
| 17:37817117 | A>S | A:337 | (26.92, 21.13, 27.78) | |
| 17:37817123 | G>R | A:339 | (28.60, 16.16, 27.15) | |
| 17:37817129 | rs201876420 | V>M | A:341 | (27.80, 17.30, 32.32) |
| 17:37817136 | S>C | A:343 | (22.02, 20.83, 31.60) | |
| 17:37817247 | V>I | A:350 | (17.84, 43.19, 29.11) | |
| 17:37817251 | R>Q | A:351 | (19.47, 42.25, 24.36) | |
| 17:37817253 | R>C | A:352 | (21.17, 49.78, 25.08) | |
| 17:37817254 | rs34408242 | R>H | A:352 | (21.17, 49.78, 25.08) |
| 17:37817262 | R>W | A:355 | (23.77, 51.24, 16.53) | |
| 17:37817265 | rs138344582 | R>C | A:356 | (29.64, 52.93, 20.34) |
| 17:37817266 | rs200528083 | R>H | A:356 | (29.64, 52.93, 20.34) |
| 17:37817278 | Y>C | A:360 | (29.00, 47.96, 15.33) | |
| 17:37817295 | rs376946622 | A>T | A:366 | (19.14, 39.53, 33.92) |
| 17:37817298 | T>P | A:367 | (15.25, 40.48, 33.44) | |
| 17:37817314 | K>M | A:372 | (8.88, 33.36, 29.68) | |
| 17:37817328 | rs147310768 | K>E | A:377 | (11.11, 22.82, 30.24) |
| 17:37817338 | rs140920637 | R>Q | A:380 | (15.26, 30.60, 34.57) |
| 17:37818506 | G>A | A:381 | (19.35, 31.19, 34.50) | |
| 17:37818532 | rs143167128 | V>M | A:390 | (31.93, 44.22, 16.60) |
| 17:37818535 | L>F | A:391 | (35.90, 45.85, 17.71) | |
| 17:37818538 | rs147486789 | K>Q | A:392 | (34.89, 49.39, 13.24) |
| 17:37818542 | rs375047157 | S>L | A:393 | (39.63, 47.91, 11.55) |
| 17:37818556 | rs148526353 | R>C | A:398 | (39.64, 44.15, 3.84) |
| 17:37818557 | rs188330170 | R>H | A:398 | (39.64, 44.15, 3.84) |
| 17:37818566 | T>I | A:401 | (37.56, 42.12, 16.55) | |
| 17:37818570 | rs139432375 | F>L | A:402 | (33.21, 38.63, 18.50) |
| 17:37818589 | rs562962022 | D>N | A:409 | (24.45, 31.67, 37.90) |
| 17:37819058 | G>D | A:412 | (23.00, 24.31, 40.93) | |
| 17:37819060 | rs373816766 | R>C | A:413 | (24.03, 20.17, 43.69) |
| 17:37819061 | R>H | A:413 | (24.03, 20.17, 43.69) | |
| 17:37819064 | L>Q | A:414 | (27.69, 21.03, 38.89) | |
| 17:37819070 | R>Q | A:416 | (32.59, 28.32, 40.73) | |
| 17:37819072 | Y>H | A:417 | (35.81, 22.00, 38.13) | |
| 17:37819108 | COSM218514 | E>K | A:429 | (31.26, 25.21, 20.75) |
| 17:37819115 | A>V | A:431 | (33.58, 30.51, 17.11) | |
| 17:37819119 | F>L | A:432 | (33.29, 25.81, 14.43) | |
| 17:37819127 | rs562900538 | R>Q | A:435 | (35.31, 30.59, 12.50) |
| 17:37819132 | rs151032154 | R>C | A:437 | (26.47, 32.34, 8.60) |
| 17:37819133 | R>H | A:437 | (26.47, 32.34, 8.60) | |
| 17:37819141 | rs368839197 COSM3387842 |
E>K | A:440 | (28.00, 30.00, 4.92) |
| 17:37819145 | rs146010122 | L>P | A:441 | (27.62, 34.78, 4.38) |
| 17:37819150 | rs139221372 | A>S | A:443 | (30.07, 32.05, -0.74) |