General Structure Information
| PDB ID | 1nzx |
| HGNC Gene Label(s) | ALDH2 |
| Structure Name | human mitochondrial aldehyde dehydrogenase complexed with nad+ in the presence of low mg2+ |
| Resolution | 2.45Å |
| Reference | AUTH S.J.PEREZ-MILLER,T.D.HURLEYTITL COENZYME ISOMERIZATION IS INTEGRAL TO CATALYSIS INTITL 2 ALDEHYDE DEHYDROGENASEREF BIOCHEMISTRY V. 42 7100 2003REFN ISSN 0006-2960PMID 12795606DOI 10.1021/BI034182W |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 494 |
| Number Of SNVs | 119 |
| Number Of Permutations | 70878 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | 0.382 |
| p-value | 0.109 |
COSMIC
| Number Of Residues | 494 |
| Number Of SNVs | 5 |
| Number Of Permutations | 490 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.1 |
| p-value | 0.627 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 119 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 30.0 |
| K Statistic | 0.24 |
| p-value | 0.708 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:112204872 | N>S | B:12 | (45.44, 25.90, 22.50) | |
| 12:112219724 | rs200757003 | I>M | B:22 | (44.63, 47.82, 34.84) |
| 12:112219750 | A>V | B:31 | (43.15, 53.21, 31.18) | |
| 12:112219764 | T>A | B:36 | (45.51, 50.30, 24.09) | |
| 12:112219776 | COSM1182487 COSM1182488 |
V>I | B:40 | (53.50, 40.62, 19.33) |
| 12:112219780 | N>S | B:41 | (53.38, 35.91, 18.28) | |
| 12:112219783 | P>L | B:42 | (57.18, 36.24, 18.75) | |
| 12:112219809 | V>I | B:51 | (46.97, 45.62, 26.72) | |
| 12:112219815 | E>K | B:53 | (49.24, 52.45, 28.11) | |
| 12:112219818 | G>R | B:54 | (49.60, 52.40, 31.89) | |
| 12:112219821 | rs369662183 | D>N | B:55 | (50.73, 56.17, 32.99) |
| 12:112220972 | D>V | B:60 | (48.65, 57.12, 41.58) | |
| 12:112220981 | rs140347209 | V>A | B:63 | (49.56, 53.01, 45.44) |
| 12:112220989 | rs375845001 | A>T | B:66 | (47.68, 49.07, 48.56) |
| 12:112220993 | rs199624420 | R>Q | B:67 | (49.40, 52.33, 51.91) |
| 12:112221001 | F>L | B:70 | (49.86, 47.76, 54.98) | |
| 12:112221003 | F>L | B:70 | (49.86, 47.76, 54.98) | |
| 12:112221011 | G>V | B:73 | (42.94, 46.25, 60.57) | |
| 12:112221013 | S>T | B:74 | (43.30, 45.11, 57.50) | |
| 12:112221016 | rs201582342 | P>T | B:75 | (41.69, 42.23, 56.18) |
| 12:112221023 | rs201745983 | R>H | B:77 | (48.41, 44.50, 58.67) |
| 12:112221025 | rs140919090 | R>C | B:78 | (42.72, 41.45, 61.94) |
| 12:112221040 | H>N | B:83 | (44.99, 32.22, 55.85) | |
| 12:112221043 | R>G | B:84 | (50.25, 35.39, 55.25) | |
| 12:112221049 | rs150202179 | R>W | B:86 | (46.60, 27.26, 53.17) |
| 12:112221050 | R>Q | B:86 | (46.60, 27.26, 53.17) | |
| 12:112221061 | COSM935101 COSM935102 |
R>C | B:90 | (43.46, 27.70, 46.13) |
| 12:112221062 | rs141696414 | R>H | B:90 | (43.46, 27.70, 46.13) |
| 12:112221067 | COSM1721463 COSM1721464 |
A>S | B:92 | (49.33, 27.08, 43.29) |
| 12:112221082 | rs190764869 | R>W | B:97 | (42.84, 25.12, 37.62) |
| 12:112221083 | R>Q | B:97 | (42.84, 25.12, 37.62) | |
| 12:112221085 | rs376099569 COSM467800 COSM467801 |
D>N | B:98 | (44.90, 26.80, 34.89) |
| 12:112221089 | R>Q | B:99 | (51.19, 23.01, 34.31) | |
| 12:112221094 | Y>H | B:101 | (45.62, 29.24, 29.42) | |
| 12:112223089 | rs367911769 | N>D | B:110 | (58.17, 34.58, 25.30) |
| 12:112223102 | Y>C | B:114 | (53.77, 23.62, 25.66) | |
| 12:112223105 | V>A | B:115 | (57.96, 21.53, 26.37) | |
| 12:112223119 | V>L | B:120 | (60.71, 24.60, 33.35) | |
| 12:112223130 | rs141373324 | D>E | B:123 | (57.69, 23.11, 38.08) |
| 12:112223142 | K>N | B:127 | (58.76, 23.94, 42.88) | |
| 12:112223149 | R>W | B:130 | (53.56, 24.78, 46.14) | |
| 12:112223150 | rs371993659 | R>Q | B:130 | (53.56, 24.78, 46.14) |
| 12:112227635 | A>G | B:133 | (54.05, 29.30, 51.82) | |
| 12:112227670 | P>S | B:145 | (70.27, 39.58, 75.44) | |
| 12:112227671 | P>R | B:145 | (70.27, 39.58, 75.44) | |
| 12:112227674 | I>T | B:146 | (69.75, 44.39, 76.39) | |
| 12:112227679 | rs144375294 | G>R | B:148 | (69.77, 45.65, 81.86) |
| 12:112227689 | F>S | B:151 | (61.60, 42.23, 76.76) | |
| 12:112227697 | rs375708006 | T>S | B:154 | (62.71, 42.09, 67.11) |
| 12:112227700 | rs368356402 | R>C | B:155 | (57.05, 43.38, 65.55) |
| 12:112227701 | R>H | B:155 | (57.05, 43.38, 65.55) | |
| 12:112227709 | P>T | B:158 | (55.52, 44.32, 56.87) | |
| 12:112227724 | G>R | B:163 | (57.37, 47.62, 43.88) | |
| 12:112227737 | rs191240032 | P>L | B:167 | (61.30, 40.91, 33.25) |
| 12:112228281 | A>V | B:182 | (55.81, 39.60, 49.55) | |
| 12:112228298 | V>M | B:188 | (51.16, 45.34, 49.53) | |
| 12:112228311 | K>M | B:192 | (55.49, 47.00, 35.31) | |
| 12:112228313 | V>I | B:193 | (54.26, 43.59, 33.66) | |
| 12:112228337 | rs377123780 COSM1358795 COSM1358794 |
A>T | B:201 | (50.30, 37.98, 34.74) |
| 12:112228343 | Y>H | B:203 | (44.55, 33.72, 34.02) | |
| 12:112228350 | rs540073928 | A>D | B:205 | (45.31, 37.98, 38.90) |
| 12:112228366 | E>D | B:210 | (39.81, 31.87, 42.11) | |
| 12:112229131 | V>I | B:218 | (47.98, 41.99, 44.17) | |
| 12:112229137 | rs529768244 | I>V | B:220 | (48.87, 43.86, 37.92) |
| 12:112229140 | V>L | B:221 | (50.08, 48.31, 36.15) | |
| 12:112229147 | G>E | B:223 | (53.17, 48.95, 30.44) | |
| 12:112229159 | rs543030829 | T>M | B:227 | (55.43, 55.52, 31.94) |
| 12:112229170 | A>T | B:231 | (55.82, 55.86, 38.66) | |
| 12:112229177 | rs111540940 | A>V | B:233 | (60.21, 54.49, 41.38) |
| 12:112229183 | H>R | B:235 | (54.62, 56.91, 44.44) | |
| 12:112229195 | D>G | B:239 | (57.45, 51.73, 51.23) | |
| 12:112229871 | rs201835306 COSM3456124 COSM3456125 |
R>C | B:251 | (72.90, 52.95, 36.60) |
| 12:112229872 | R>H | B:251 | (72.90, 52.95, 36.60) | |
| 12:112229874 | V>I | B:252 | (66.98, 54.90, 36.63) | |
| 12:112229889 | A>S | B:257 | (64.70, 56.31, 45.20) | |
| 12:112229898 | rs139133423 | S>C | B:260 | (61.86, 60.15, 46.19) |
| 12:112229932 | G>E | B:271 | (75.53, 39.60, 32.56) | |
| 12:112229935 | K>R | B:272 | (79.17, 38.30, 30.11) | |
| 12:112229962 | rs148698157 | A>D | B:281 | (86.47, 17.57, 32.47) |
| 12:112229964 | rs142271678 | D>N | B:282 | (82.83, 14.89, 31.48) |
| 12:112230413 | rs201108880 | V>M | B:287 | (79.72, 20.08, 25.64) |
| 12:112230431 | rs534531260 COSM1195156 COSM1195157 |
A>S | B:293 | (74.42, 27.86, 29.53) |
| 12:112230473 | R>W | B:307 | (82.86, 35.28, 30.08) | |
| 12:112230474 | rs372053825 | R>Q | B:307 | (82.86, 35.28, 30.08) |
| 12:112230477 | T>N | B:308 | (82.96, 29.50, 27.28) | |
| 12:112230482 | COSM307371 | V>M | B:310 | (88.20, 26.16, 27.22) |
| 12:112230489 | rs376029750 | E>V | B:312 | (95.63, 25.09, 26.12) |
| 12:112230498 | Y>C | B:315 | (89.64, 25.57, 22.13) | |
| 12:112230501 | D>G | B:316 | (90.70, 22.18, 19.46) | |
| 12:112230515 | rs202226446 | R>W | B:321 | (82.50, 17.20, 21.16) |
| 12:112230516 | R>Q | B:321 | (82.50, 17.20, 21.16) | |
| 12:112230521 | V>I | B:323 | (79.95, 23.52, 16.46) | |
| 12:112230528 | COSM1686191 | R>Q | B:325 | (73.93, 20.47, 20.61) |
| 12:112230530 | A>S | B:326 | (74.62, 24.11, 17.51) | |
| 12:112230537 | S>F | B:328 | (71.77, 20.11, 16.17) | |
| 12:112230540 | R>Q | B:329 | (69.45, 24.29, 19.56) | |
| 12:112230543 | rs147698998 | V>A | B:330 | (65.71, 22.35, 16.51) |
| 12:112230565 | S>R | B:337 | (57.82, 18.62, 20.10) | |
| 12:112235886 | D>A | B:346 | (61.32, 41.97, 20.45) | |
| 12:112235897 | F>L | B:350 | (65.82, 39.97, 15.23) | |
| 12:112235900 | K>E | B:351 | (67.11, 45.04, 15.33) | |
| 12:112235912 | COSM3456128 COSM3456129 |
G>S | B:355 | (74.72, 43.37, 15.82) |
| 12:112235924 | rs201023185 | T>A | B:359 | (80.46, 43.46, 16.42) |
| 12:112235925 | rs551054294 | T>M | B:359 | (80.46, 43.46, 16.42) |
| 12:112235928 | G>A | B:360 | (82.24, 39.95, 15.91) | |
| 12:112235931 | K>R | B:361 | (81.24, 38.93, 11.88) | |
| 12:112235943 | rs372769067 COSM291669 COSM291670 |
A>V | B:365 | (85.67, 36.64, 15.81) |
| 12:112235951 | L>V | B:368 | (82.69, 28.35, 14.16) | |
| 12:112235954 | C>R | B:369 | (78.08, 28.55, 13.57) | |
| 12:112235966 | I>V | B:373 | (67.88, 35.13, 9.61) | |
| 12:112235996 | rs149442966 | P>S | B:383 | (72.28, 28.74, 16.43) |
| 12:112236035 | A>T | B:396 | (83.24, 39.58, 25.86) | |
| 12:112237714 | rs550022818 | F>S | B:401 | (69.44, 38.59, 26.80) |
| 12:112237716 | G>R | B:402 | (71.38, 35.39, 22.83) | |
| 12:112237727 | M>I | B:405 | (78.72, 30.27, 22.30) | |
| 12:112237749 | I>V | B:413 | (93.58, 28.02, 37.84) | |
| 12:112237750 | rs374377652 | I>T | B:413 | (93.58, 28.02, 37.84) |
| 12:112237752 | rs144598865 | E>K | B:414 | (96.37, 30.88, 38.47) |
| 12:112237771 | A>G | B:420 | (86.51, 35.93, 35.18) | |
| 12:112237823 | rs547207199 | D>E | B:437 | (91.63, 21.05, 45.64) |
| 12:112237824 | K>E | B:438 | (90.97, 22.16, 40.48) | |
| 12:112237831 | N>S | B:440 | (86.91, 24.12, 46.71) | |
| 12:112237842 | rs201405479 | Q>E | B:444 | (87.17, 30.94, 47.63) |
| 12:112237845 | A>T | B:445 | (87.68, 33.08, 43.70) | |
| 12:112237854 | A>P | B:448 | (79.67, 35.31, 41.96) | |
| 12:112237855 | COSM4038787 COSM4038788 |
A>V | B:448 | (79.67, 35.31, 41.96) |
| 12:112241706 | G>S | B:467 | (74.58, 39.93, 42.55) | |
| 12:112241719 | rs371493214 | S>L | B:471 | (74.71, 42.16, 38.62) |
| 12:112241730 | rs199724286 | R>W | B:475 | (71.14, 38.18, 46.83) |
| 12:112241731 | R>Q | B:475 | (71.14, 38.18, 46.83) | |
| 12:112241742 | E>K | B:479 | (65.85, 32.68, 54.98) | |
| 12:112241766 | rs671 | E>K | B:487 | (61.06, 47.26, 58.20) |
| 12:112241772 | K>Q | B:489 | (59.55, 47.41, 65.38) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:112221067 | COSM1721463 | A>T | B:92 | (49.33, 27.08, 43.29) |
| 12:112228251 | COSM1358788 | L>P | B:172 | (54.63, 33.27, 34.91) |
| 12:112237741 | COSM1746751 | F>S | B:410 | (92.04, 28.47, 30.17) |
| 12:112241719 | COSM1947950 | S>L | B:471 | (74.71, 42.16, 38.62) |
| 12:112241766 | COSM147611 | E>K | B:487 | (61.06, 47.26, 58.20) |