General Structure Information
| PDB ID | 1d1t |
| HGNC Gene Label(s) | ADH7 |
| Structure Name | mutant of human sigma alcohol dehydrogenase with leucine at position 141 |
| Resolution | 2.4Å |
| Reference | AUTH P.T.XIE,T.D.HURLEYTITL METHIONINE-141 DIRECTLY INFLUENCES THE BINDING OFTITL 2 4-METHYLPYRAZOLE IN HUMAN SIGMA SIGMA ALCOHOL DEHYDROGENASE.REF PROTEIN SCI. V. 8 2639 1999REFN ISSN 0961-8368PMID 10631979 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 373 |
| Number Of SNVs | 111 |
| Number Of Permutations | 48068 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.028 |
| p-value | 0.744 |
COSMIC
| Number Of Residues | 373 |
| Number Of SNVs | 9 |
| Number Of Permutations | 2127 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.167 |
| p-value | 0.814 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 111 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | -0.271 |
| p-value | 0.637 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:100356198 | rs575689240 | S>P | D:1 | (62.95, -1.57, 43.77) |
| 4:100356185 | G>A | D:5 | (61.51, -6.57, 46.28) | |
| 4:100350783 | K>T | D:8 | (69.57, -8.90, 50.82) | |
| 4:100350781 | C>R | D:9 | (70.53, -6.02, 55.63) | |
| 4:100350768 | V>E | D:13 | (72.55, -10.54, 65.65) | |
| 4:100350760 | E>K | D:16 | (73.43, -17.34, 73.20) | |
| 4:100350748 | P>T | D:20 | (78.68, -10.73, 71.67) | |
| 4:100350742 | S>A | D:22 | (76.80, -10.51, 65.22) | |
| 4:100350738 | rs61754859 | I>T | D:23 | (77.25, -7.13, 62.36) |
| 4:100350717 | P>Q | D:30 | (58.01, -8.03, 52.68) | |
| 4:100350715 | P>S | D:31 | (55.41, -5.27, 54.30) | |
| 4:100350711 | rs113371400 | K>R | D:32 | (52.57, -9.46, 55.85) |
| 4:100350703 | E>K | D:35 | (53.06, -5.07, 58.42) | |
| 4:100350697 | COSM3373334 COSM3373333 |
R>C | D:37 | (60.11, -2.69, 54.58) |
| 4:100350690 | K>T | D:39 | (65.96, 3.50, 56.12) | |
| 4:100349783 | L>S | D:41 | (67.96, 7.16, 59.94) | |
| 4:100349766 | R>C | D:47 | (71.09, -0.59, 80.82) | |
| 4:100349758 | D>E | D:49 | (68.73, -3.19, 74.86) | |
| 4:100349755 | D>E | D:50 | (72.48, -4.72, 78.59) | |
| 4:100349753 | rs113215738 | H>R | D:51 | (68.55, -5.63, 80.93) |
| 4:100349736 | M>V | D:57 | (64.75, -9.22, 79.41) | |
| 4:100349717 | V>A | D:63 | (67.39, -11.36, 68.95) | |
| 4:100349714 | I>T | D:64 | (67.28, -8.03, 66.20) | |
| 4:100349712 | V>M | D:65 | (67.83, -5.65, 70.01) | |
| 4:100349690 | I>T | D:72 | (62.29, 6.88, 56.62) | |
| 4:100349678 | I>T | D:76 | (53.09, 0.86, 52.94) | |
| 4:100349667 | V>M | D:80 | (48.77, 1.25, 55.61) | |
| 4:100349661 | T>A | D:82 | (48.87, 6.22, 59.22) | |
| 4:100349313 | rs559987193 | L>P | D:92 | (56.02, 2.63, 68.76) |
| 4:100349311 | F>L | D:93 | (58.22, 0.23, 73.47) | |
| 4:100349299 | rs376655249 | C>G | D:97 | (45.26, -0.24, 69.10) |
| 4:100349296 | R>G | D:98 | (44.19, 4.59, 68.53) | |
| 4:100349277 | rs147020637 | R>H | D:104 | (38.67, 2.30, 73.68) |
| 4:100349278 | COSM2150779 COSM2150778 |
R>C | D:104 | (38.67, 2.30, 73.68) |
| 4:100349262 | N>T | D:109 | (49.65, 2.91, 78.35) | |
| 4:100349260 | L>I | D:110 | (49.89, -1.67, 78.49) | |
| 4:100349256 | C>F | D:111 | (48.45, -2.03, 74.20) | |
| 4:100349245 | rs549028723 COSM3598603 COSM3598602 |
D>H | D:115 | (56.15, -8.21, 73.51) |
| 4:100349139 | G>C | D:119 | (58.78, -12.38, 74.66) | |
| 4:100349136 | rs539728659 | R>C | D:120 | (54.97, -13.34, 71.39) |
| 4:100349111 | T>I | D:128 | (59.35, -13.56, 62.10) | |
| 4:100349100 | C>R | D:132 | (70.16, -15.24, 59.36) | |
| 4:100349052 | rs146508025 | E>K | D:148 | (70.18, -1.25, 57.47) |
| 4:100349049 | Y>H | D:149 | (66.01, -1.43, 55.98) | |
| 4:100349036 | rs567630856 | D>G | D:153 | (52.54, -3.84, 63.38) |
| 4:100349032 | rs368475406 | E>D | D:154 | (49.60, 0.88, 61.26) |
| 4:100349018 | COSM3974630 COSM3974629 |
K>R | D:159 | (53.50, 10.90, 60.72) |
| 4:100349015 | I>T | D:160 | (57.54, 12.19, 63.20) | |
| 4:100349009 | D>V | D:162 | (59.18, 15.76, 57.96) | |
| 4:100349010 | D>N | D:162 | (59.18, 15.76, 57.96) | |
| 4:100348985 | C>Y | D:170 | (65.73, 8.79, 68.96) | |
| 4:100348986 | C>G | D:170 | (65.73, 8.79, 68.96) | |
| 4:100348976 | rs202236646 COSM3392638 COSM3392637 |
G>A | D:173 | (61.31, 5.95, 71.96) |
| 4:100348967 | F>Y | D:176 | (62.58, 12.63, 76.95) | |
| 4:100348961 | T>S | D:178 | (60.02, 7.04, 79.97) | |
| 4:100348950 | rs373728468 COSM1538970 COSM1538969 |
A>T | D:182 | (57.09, 9.71, 84.77) |
| 4:100341950 | V>I | D:189 | (54.96, 16.48, 89.58) | |
| 4:100341946 | K>T | D:190 | (51.63, 18.78, 92.57) | |
| 4:100341940 | rs552430238 | G>V | D:192 | (56.83, 23.04, 94.63) |
| 4:100341934 | T>I | D:194 | (60.29, 17.60, 96.75) | |
| 4:100341925 | V>A | D:197 | (65.84, 10.89, 90.90) | |
| 4:100341926 | rs377699817 | V>I | D:197 | (65.84, 10.89, 90.90) |
| 4:100341922 | F>S | D:198 | (66.45, 6.85, 93.77) | |
| 4:100341916 | L>R | D:200 | (71.39, 10.20, 87.43) | |
| 4:100341908 | V>F | D:203 | (65.57, 7.61, 82.05) | |
| 4:100341893 | I>V | D:208 | (65.48, 15.73, 86.31) | |
| 4:100341886 | G>V | D:210 | (59.97, 16.84, 84.21) | |
| 4:100341869 | A>T | D:216 | (59.73, 21.45, 91.12) | |
| 4:100341856 | rs142925993 | I>T | D:220 | (67.13, 15.27, 95.23) |
| 4:100341841 | N>S | D:225 | (78.57, 7.70, 89.09) | |
| 4:100341839 | rs59534319 | K>E | D:226 | (79.84, 11.24, 92.92) |
| 4:100341820 | A>V | D:232 | (72.01, 16.38, 86.84) | |
| 4:100341821 | A>T | D:232 | (72.01, 16.38, 86.84) | |
| 4:100341818 | rs113993320 | M>V | D:233 | (73.03, 19.97, 88.54) |
| 4:100341814 | A>V | D:234 | (72.40, 20.76, 83.85) | |
| 4:100341805 | A>G | D:237 | (69.10, 19.37, 89.71) | |
| 4:100341802 | T>I | D:238 | (68.48, 21.19, 93.15) | |
| 4:100341799 | E>V | D:239 | (70.63, 18.66, 95.92) | |
| 4:100341788 | rs146193104 | P>S | D:243 | (74.16, 6.26, 98.84) |
| 4:100341780 | D>E | D:245 | (77.85, 10.12, 100.98) | |
| 4:100341782 | rs368178823 | D>N | D:245 | (77.85, 10.12, 100.98) |
| 4:100341766 | I>T | D:250 | (68.53, 7.31, 101.68) | |
| 4:100341742 | rs576525742 | T>I | D:258 | (63.22, 17.65, 103.13) |
| 4:100341739 | rs143235779 | G>D | D:259 | (61.31, 17.99, 106.44) |
| 4:100341731 | COSM447153 COSM1485551 |
V>M | D:262 | (59.74, 13.46, 99.88) |
| 4:100341709 | I>T | D:269 | (68.08, 1.91, 88.71) | |
| 4:100341703 | H>R | D:271 | (68.62, -2.37, 91.38) | |
| 4:100341700 | L>P | D:272 | (64.25, -5.04, 93.81) | |
| 4:100341691 | rs199972891 | M>T | D:275 | (62.32, -0.54, 93.68) |
| 4:100340271 | A>V | D:278 | (61.98, 4.85, 96.96) | |
| 4:100340272 | rs150551313 | A>S | D:278 | (61.98, 4.85, 96.96) |
| 4:100340262 | rs367823526 | S>F | D:281 | (62.21, 7.94, 100.53) |
| 4:100340256 | rs373645348 COSM1671163 COSM1671162 |
H>R | D:283 | (55.28, 11.81, 103.56) |
| 4:100340254 | M>V | D:284 | (54.57, 8.00, 105.84) | |
| 4:100340248 | Y>N | D:286 | (52.56, 13.98, 101.71) | |
| 4:100340244 | COSM585364 COSM1143450 |
G>A | D:287 | (53.57, 9.95, 98.81) |
| 4:100340245 | G>R | D:287 | (53.57, 9.95, 98.81) | |
| 4:100340241 | T>S | D:288 | (54.25, 9.33, 95.05) | |
| 4:100340237 | S>R | D:289 | (56.87, 5.92, 94.31) | |
| 4:100340236 | rs370741519 | V>M | D:290 | (57.32, 6.01, 90.10) |
| 4:100340230 | rs536459748 | V>I | D:292 | (60.85, 3.65, 85.93) |
| 4:100340224 | V>I | D:294 | (63.01, -3.02, 84.57) | |
| 4:100340200 | T>P | D:302 | (60.60, -8.46, 100.37) | |
| 4:100340173 | G>R | D:311 | (49.68, 6.38, 102.16) | |
| 4:100340169 | rs148046430 | R>H | D:312 | (54.33, 5.62, 101.55) |
| 4:100340170 | rs367907552 | R>C | D:312 | (54.33, 5.62, 101.55) |
| 4:100340158 | G>R | D:316 | (54.01, 2.19, 87.59) | |
| 4:100340154 | C>Y | D:317 | (56.07, 3.29, 84.33) | |
| 4:100336769 | rs144172801 | L>F | D:322 | (53.11, 8.18, 76.90) |
| 4:100336746 | K>R | D:330 | (51.86, 15.74, 71.05) | |
| 4:100336740 | V>E | D:332 | (58.57, 15.72, 68.04) | |
| 4:100336738 | T>A | D:333 | (56.02, 19.21, 68.09) | |
| 4:100336721 | rs142925520 | K>N | D:338 | (63.25, 25.58, 70.83) |
| 4:100336722 | K>T | D:338 | (63.25, 25.58, 70.83) | |
| 4:100336718 | rs188455371 | K>N | D:339 | (58.89, 23.39, 74.87) |
| 4:100336690 | rs61730852 | V>I | D:349 | (77.31, 10.15, 67.87) |
| 4:100336683 | rs182269551 | P>L | D:351 | (79.24, 4.72, 63.78) |
| 4:100336684 | P>T | D:351 | (79.24, 4.72, 63.78) | |
| 4:100336659 | rs146405705 | F>S | D:359 | (76.06, -1.76, 74.42) |
| 4:100334324 | R>Q | D:369 | (70.94, 7.20, 75.94) | |
| 4:100334321 | T>M | D:370 | (75.11, 6.10, 72.67) | |
| 4:100334312 | rs201695257 | T>R | D:373 | (74.55, 6.49, 62.85) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:100350697 | COSM3373333 | R>C | D:37 | (60.11, -2.69, 54.58) |
| 4:100349278 | COSM2150778 | R>C | D:104 | (38.67, 2.30, 73.68) |
| 4:100349263 | COSM1753445 | N>D | D:109 | (49.65, 2.91, 78.35) |
| 4:100349108 | COSM3598601 | R>K | D:129 | (58.25, -10.49, 59.05) |
| 4:100348964 | COSM3916853 | S>F | D:177 | (59.45, 9.69, 76.73) |
| 4:100341923 | COSM1426048 | F>L | D:198 | (66.45, 6.85, 93.77) |
| 4:100341831 | COSM1753442 | K>N | D:228 | (76.24, 10.37, 86.09) |
| 4:100340263 | COSM1753440 | S>T | D:281 | (62.21, 7.94, 100.53) |
| 4:100340256 | COSM1671163 | H>R | D:283 | (55.28, 11.81, 103.56) |