General Structure Information
| PDB ID | 2qq5 |
| HGNC Gene Label(s) | DHRS1 |
| Structure Name | crystal structure of human sdr family member 1 |
| Resolution | 1.8Å |
| Reference | AUTH E.S.PILKA,V.HOZJAN,E.UGOCHUKWU,F.VON DELFT,M.SUNDSTROM,AUTH 2 C.H.ARROWSMITH,J.WEIGELT,A.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN SDR FAMILY MEMBER 1.REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 238 |
| Number Of SNVs | 80 |
| Number Of Permutations | 30054 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.128 |
| p-value | 0.018 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:24768303 | P>S | A:4 | (6.63, 16.88, 41.09) | |
| 14:24768299 | rs200356670 | M>T | A:5 | (7.71, 20.04, 38.04) |
| 14:24768296 | rs202001969 | N>S | A:6 | (2.87, 17.58, 35.78) |
| 14:24768293 | G>V | A:7 | (3.03, 21.13, 33.73) | |
| 14:24768288 | V>M | A:9 | (7.37, 25.38, 31.65) | |
| 14:24768279 | V>M | A:12 | (17.93, 25.71, 31.23) | |
| 14:24768275 | T>I | A:13 | (20.59, 28.77, 30.03) | |
| 14:24768267 | S>P | A:16 | (25.41, 21.57, 26.98) | |
| 14:24768261 | G>S | A:18 | (27.13, 20.89, 33.78) | |
| 14:24768255 | G>S | A:20 | (22.80, 22.90, 33.39) | |
| 14:24768251 | R>H | A:21 | (23.93, 17.60, 32.04) | |
| 14:24768248 | G>D | A:22 | (21.78, 18.99, 35.72) | |
| 14:24768243 | A>S | A:24 | (17.79, 19.75, 33.12) | |
| 14:24768237 | Q>K | A:26 | (17.15, 16.48, 38.31) | |
| 14:24768207 | I>V | A:36 | (17.77, 22.77, 26.54) | |
| 14:24768203 | rs140692443 | T>S | A:37 | (19.84, 26.78, 25.67) |
| 14:24768204 | T>S | A:37 | (19.84, 26.78, 25.67) | |
| 14:24768197 | R>L | A:39 | (25.96, 27.90, 20.10) | |
| 14:24768198 | R>S | A:39 | (25.96, 27.90, 20.10) | |
| 14:24768191 | rs368510430 | L>P | A:41 | (20.87, 21.09, 17.92) |
| 14:24768183 | rs540228614 COSM1607558 |
L>F | A:44 | (21.39, 20.64, 23.08) |
| 14:24768177 | V>I | A:46 | (22.76, 14.15, 23.68) | |
| 14:24768173 | V>A | A:47 | (21.20, 16.54, 27.08) | |
| 14:24768171 | A>T | A:48 | (17.49, 15.48, 25.65) | |
| 14:24766075 | G>R | A:55 | (11.38, 12.71, 32.09) | |
| 14:24766062 | rs550934874 | V>A | A:59 | (12.87, 21.44, 24.00) |
| 14:24766060 | P>S | A:60 | (16.19, 21.19, 22.06) | |
| 14:24766054 | V>L | A:62 | (19.68, 27.12, 18.89) | |
| 14:24766051 | C>G | A:63 | (20.32, 30.48, 21.84) | |
| 14:24766048 | D>N | A:64 | (23.85, 33.44, 20.93) | |
| 14:24766038 | rs528798550 | Q>R | A:67 | (22.81, 37.72, 19.54) |
| 14:24766032 | rs566324526 | S>N | A:69 | (17.14, 38.03, 18.16) |
| 14:24766023 | rs200475438 | R>Q | A:72 | (12.34, 38.89, 20.82) |
| 14:24766011 | E>A | A:76 | (8.65, 34.35, 20.21) | |
| 14:24766000 | rs2295304 | R>G | A:80 | (4.97, 29.03, 19.32) |
| 14:24765997 | E>K | A:81 | (5.55, 25.21, 21.95) | |
| 14:24765984 | COSM3377382 | R>H | A:85 | (2.82, 27.47, 32.29) |
| 14:24765985 | rs374022789 | R>G | A:85 | (2.82, 27.47, 32.29) |
| 14:24765970 | V>I | A:90 | (17.93, 28.60, 34.88) | |
| 14:24765965 | rs563865768 | N>K | A:91 | (19.75, 32.62, 34.15) |
| 14:24765963 | N>S | A:92 | (23.74, 28.68, 33.37) | |
| 14:24765960 | A>V | A:93 | (26.95, 30.24, 32.22) | |
| 14:24765961 | A>T | A:93 | (26.95, 30.24, 32.22) | |
| 14:24765793 | rs377106747 | T>M | A:99 | (39.15, 31.94, 29.06) |
| 14:24765737 | COSM459185 | D>N | A:118 | (34.97, 35.77, 26.40) |
| 14:24765733 | I>T | A:119 | (33.43, 36.26, 31.01) | |
| 14:24765729 | N>K | A:120 | (30.63, 39.43, 31.26) | |
| 14:24765725 | V>I | A:122 | (26.48, 34.81, 27.43) | |
| 14:24765722 | G>R | A:123 | (27.17, 35.89, 31.50) | |
| 14:24761982 | rs141370931 | Y>S | A:128 | (18.45, 42.38, 31.38) |
| 14:24761980 | F>V | A:129 | (19.09, 40.25, 26.71) | |
| 14:24761976 | C>F | A:130 | (16.62, 35.82, 29.36) | |
| 14:24761973 | S>L | A:131 | (15.21, 37.87, 32.57) | |
| 14:24761974 | S>T | A:131 | (15.21, 37.87, 32.57) | |
| 14:24761964 | rs201964073 | G>A | A:134 | (10.38, 35.71, 31.02) |
| 14:24761959 | R>W | A:136 | (8.16, 40.55, 28.53) | |
| 14:24761951 | M>I | A:138 | (6.86, 34.61, 34.81) | |
| 14:24761935 | COSM1369363 | G>R | A:144 | (7.61, 32.27, 39.50) |
| 14:24761913 | S>F | A:151 | (29.77, 33.01, 43.17) | |
| 14:24761903 | S>R | A:154 | (30.00, 38.45, 44.63) | |
| 14:24761904 | rs377672951 | S>I | A:154 | (30.00, 38.45, 44.63) |
| 14:24761902 | L>M | A:155 | (31.49, 38.69, 48.19) | |
| 14:24761880 | rs11550018 | P>L | A:162 | (36.28, 39.75, 34.43) |
| 14:24761877 | Y>C | A:163 | (34.29, 34.96, 37.96) | |
| 14:24761866 | K>E | A:167 | (29.65, 36.25, 39.42) | |
| 14:24761535 | C>Y | A:170 | (24.72, 38.19, 38.76) | |
| 14:24761521 | rs144351742 | A>P | A:175 | (18.01, 41.56, 43.78) |
| 14:24761514 | C>Y | A:177 | (14.72, 41.47, 39.48) | |
| 14:24761515 | C>R | A:177 | (14.72, 41.47, 39.48) | |
| 14:24761506 | E>K | A:180 | (11.06, 45.41, 39.73) | |
| 14:24761499 | rs200550478 COSM1640061 |
R>Q | A:182 | (8.66, 40.51, 46.35) |
| 14:24761497 | R>C | A:183 | (3.43, 44.50, 42.76) | |
| 14:24761490 | G>E | A:185 | (4.77, 36.71, 42.66) | |
| 14:24761491 | rs139770664 | G>R | A:185 | (4.77, 36.71, 42.66) |
| 14:24761481 | C>Y | A:188 | (14.63, 36.10, 41.90) | |
| 14:24761478 | V>A | A:189 | (17.03, 33.33, 43.38) | |
| 14:24761479 | COSM1707226 | V>M | A:189 | (17.03, 33.33, 43.38) |
| 14:24761466 | rs200961410 | P>L | A:193 | (26.34, 25.97, 42.78) |
| 14:24761467 | rs76421634 | P>T | A:193 | (26.34, 25.97, 42.78) |
| 14:24761460 | I>T | A:195 | (33.05, 25.47, 41.35) | |
| 14:24760809 | rs371723270 COSM4050246 |
A>V | A:226 | (28.91, 14.98, 39.54) |
| 14:24760788 | rs187365006 | G>A | A:233 | (18.91, 20.35, 40.61) |
| 14:24760783 | C>R | A:235 | (18.09, 22.68, 44.65) | |
| 14:24760780 | rs367792850 | V>M | A:236 | (16.11, 24.08, 41.12) |
| 14:24760771 | rs569068131 | L>V | A:239 | (13.69, 26.42, 44.96) |
| 14:24760764 | rs10134537 | T>I | A:241 | (8.30, 22.68, 44.59) |
| 14:24760762 | D>N | A:242 | (8.83, 26.18, 48.22) | |
| 14:24760379 | D>E | A:257 | (22.40, 25.70, 53.15) | |
| 14:24760380 | D>G | A:257 | (22.40, 25.70, 53.15) | |
| 14:24760371 | R>Q | A:260 | (21.85, 21.76, 55.05) | |
| 14:24760368 | R>L | A:261 | (14.58, 24.97, 53.23) | |
| 14:24760369 | rs559917499 COSM3386498 |
R>C | A:261 | (14.58, 24.97, 53.23) |