General Structure Information
| PDB ID | 2w8r |
| HGNC Gene Label(s) | ALDH5A1 |
| Structure Name | the crystal structure of human ssadh in complex with nad+ |
| Resolution | 2.4Å |
| Reference | AUTH Y.-G.KIM,S.LEE,O.-S.KWON,S.-Y.PARK,S.-J.LEE,AUTH 2 B.-J.PARK,K.-J.KIMTITL REDOX-SWITCH MODULATION OF HUMAN SSADH BY DYNAMICTITL 2 CATALYTIC LOOP.REF EMBO J. V. 28 959 2009REFN ISSN 0261-4189PMID 19300440DOI 10.1038/EMBOJ.2009.40 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 485 |
| Number Of SNVs | 114 |
| Number Of Permutations | 32151 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.325 |
| p-value | 0.363 |
COSMIC
| Number Of Residues | 485 |
| Number Of SNVs | 8 |
| Number Of Permutations | 3334 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.036 |
| p-value | 0.091 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 114 |
| Number Of COSMIC SNVs | 8 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | -0.163 |
| p-value | 0.167 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 6:24495502 | C>F | A:93 | (34.73, -50.86, -47.15) | |
| 6:24495511 | R>Q | A:96 | (38.35, -58.67, -42.83) | |
| 6:24502751 | E>K | A:119 | (5.36, -58.62, -42.82) | |
| 6:24502757 | S>G | A:121 | (4.56, -56.14, -48.45) | |
| 6:24502769 | rs201082048 | R>W | A:125 | (3.48, -49.89, -49.30) |
| 6:24502770 | R>Q | A:125 | (3.48, -49.89, -49.30) | |
| 6:24502782 | N>S | A:129 | (5.42, -44.61, -47.26) | |
| 6:24502829 | E>Q | A:145 | (25.80, -37.61, -55.02) | |
| 6:24503513 | rs141686677 | H>R | A:154 | (12.43, -33.92, -57.03) |
| 6:24503514 | H>Q | A:154 | (12.43, -33.92, -57.03) | |
| 6:24503521 | I>V | A:157 | (13.27, -39.89, -55.30) | |
| 6:24503522 | I>N | A:157 | (13.27, -39.89, -55.30) | |
| 6:24503523 | I>M | A:157 | (13.27, -39.89, -55.30) | |
| 6:24503524 | L>I | A:158 | (8.92, -40.25, -57.37) | |
| 6:24503533 | rs139486423 | A>T | A:161 | (9.78, -45.19, -54.65) |
| 6:24503559 | E>D | A:169 | (2.02, -54.35, -55.15) | |
| 6:24503567 | COSM1076484 | R>H | A:172 | (0.25, -60.46, -50.93) |
| 6:24503569 | COSM309039 | R>C | A:173 | (0.49, -60.87, -56.14) |
| 6:24503570 | rs369366567 COSM1076486 |
R>H | A:173 | (0.49, -60.87, -56.14) |
| 6:24503572 | V>L | A:174 | (5.01, -65.68, -55.74) | |
| 6:24503576 | Y>C | A:175 | (0.89, -66.74, -57.73) | |
| 6:24503584 | I>V | A:178 | (-0.90, -77.61, -59.90) | |
| 6:24503585 | rs375773360 | I>T | A:178 | (-0.90, -77.61, -59.90) |
| 6:24503590 | rs2760118 | H>Y | A:180 | (-2.16, -83.89, -65.62) |
| 6:24503594 | rs147439442 | T>I | A:181 | (1.05, -85.96, -65.15) |
| 6:24503597 | rs3765310 | P>L | A:182 | (0.40, -88.96, -67.39) |
| 6:24503611 | rs370988709 COSM3860745 |
R>W | A:187 | (-1.04, -85.87, -58.44) |
| 6:24503612 | R>Q | A:187 | (-1.04, -85.87, -58.44) | |
| 6:24503615 | A>V | A:188 | (2.74, -81.80, -60.04) | |
| 6:24503635 | I>V | A:195 | (18.25, -67.39, -54.84) | |
| 6:24503639 | G>V | A:196 | (19.22, -65.63, -51.20) | |
| 6:24503641 | V>M | A:197 | (22.52, -63.74, -50.55) | |
| 6:24503657 | rs148733464 | T>I | A:202 | (25.09, -49.62, -58.21) |
| 6:24505103 | F>L | A:206 | (19.85, -42.94, -62.33) | |
| 6:24505124 | R>W | A:213 | (15.86, -50.55, -60.70) | |
| 6:24505125 | rs553257538 | R>Q | A:213 | (15.86, -50.55, -60.70) |
| 6:24505139 | A>T | A:218 | (15.05, -59.08, -53.61) | |
| 6:24505151 | G>S | A:222 | (13.31, -63.25, -49.89) | |
| 6:24505163 | COSM740999 | V>M | A:226 | (25.27, -56.82, -50.10) |
| 6:24505178 | E>K | A:231 | (32.95, -44.34, -56.05) | |
| 6:24505179 | E>G | A:231 | (32.95, -44.34, -56.05) | |
| 6:24505181 | D>H | A:232 | (30.94, -40.96, -57.57) | |
| 6:24505188 | P>R | A:234 | (27.63, -42.85, -51.64) | |
| 6:24505190 | F>L | A:235 | (26.20, -39.73, -49.44) | |
| 6:24515398 | COSM1442473 | A>S | A:244 | (15.07, -49.26, -43.60) |
| 6:24515401 | S>G | A:245 | (15.62, -48.54, -40.07) | |
| 6:24515403 | rs141430899 | S>R | A:245 | (15.62, -48.54, -40.07) |
| 6:24515405 | Q>R | A:246 | (12.94, -44.98, -40.05) | |
| 6:24515432 | rs145087265 | N>S | A:255 | (23.52, -54.82, -46.00) |
| 6:24515454 | K>N | A:262 | (41.97, -47.56, -54.38) | |
| 6:24515459 | A>V | A:264 | (36.37, -52.01, -56.11) | |
| 6:24515461 | K>E | A:265 | (39.69, -53.61, -58.19) | |
| 6:24515462 | rs201146454 | K>T | A:265 | (39.69, -53.61, -58.19) |
| 6:24515466 | E>D | A:266 | (39.96, -55.61, -54.19) | |
| 6:24515471 | rs375628463 CM012723 |
G>E | A:268 | (33.70, -57.34, -55.63) |
| 6:24515477 | A>E | A:270 | (34.39, -60.69, -52.42) | |
| 6:24515479 | I>V | A:271 | (30.61, -59.45, -52.91) | |
| 6:24515483 | C>F | A:272 | (30.95, -61.68, -56.56) | |
| 6:24515485 | T>A | A:273 | (33.43, -64.96, -54.81) | |
| 6:24515527 | rs369156704 | T>A | A:287 | (34.57, -53.96, -68.87) |
| 6:24515530 | rs373320785 | T>A | A:288 | (32.82, -54.36, -64.92) |
| 6:24515531 | T>I | A:288 | (32.82, -54.36, -64.92) | |
| 6:24515538 | COSM1442474 | K>N | A:290 | (32.80, -59.08, -69.66) |
| 6:24520644 | rs149482918 | A>T | A:296 | (30.26, -66.21, -61.10) |
| 6:24520645 | A>V | A:296 | (30.26, -66.21, -61.10) | |
| 6:24520665 | V>F | A:303 | (23.78, -63.32, -63.24) | |
| 6:24520669 | S>F | A:304 | (21.57, -59.81, -63.32) | |
| 6:24520675 | E>G | A:306 | (21.68, -52.64, -67.44) | |
| 6:24520681 | G>D | A:308 | (26.12, -49.60, -71.68) | |
| 6:24520683 | G>S | A:309 | (24.95, -48.89, -74.59) | |
| 6:24520687 | rs372399735 | L>R | A:310 | (24.89, -47.05, -78.33) |
| 6:24520692 | P>A | A:312 | (19.30, -45.98, -81.67) | |
| 6:24520717 | rs570262377 | N>S | A:320 | (5.76, -34.58, -85.60) |
| 6:24520719 | rs115784602 | V>M | A:321 | (9.49, -32.39, -86.49) |
| 6:24523005 | C>Y | A:342 | (21.17, -41.61, -73.72) | |
| 6:24523012 | rs551402692 | N>K | A:344 | (24.28, -41.72, -78.44) |
| 6:24523031 | G>C | A:351 | (13.76, -35.30, -95.98) | |
| 6:24523040 | D>N | A:354 | (17.79, -30.23, -93.41) | |
| 6:24523041 | D>A | A:354 | (17.79, -30.23, -93.41) | |
| 6:24523046 | F>L | A:356 | (15.63, -33.08, -86.62) | |
| 6:24523062 | A>V | A:361 | (19.16, -26.45, -82.27) | |
| 6:24523088 | COSM2856703 | V>I | A:370 | (24.63, -24.78, -68.25) |
| 6:24523094 | rs200308698 | N>D | A:372 | (24.26, -25.62, -59.73) |
| 6:24523143 | rs536355368 | A>V | A:388 | (34.35, -37.22, -68.92) |
| 6:24523149 | rs142677472 | E>G | A:390 | (39.26, -35.81, -70.92) |
| 6:24528225 | V>M | A:392 | (33.12, -35.28, -74.88) | |
| 6:24528235 | rs143853764 | Q>R | A:395 | (33.45, -38.24, -80.07) |
| 6:24528237 | rs199686669 | V>M | A:396 | (33.91, -33.50, -80.67) |
| 6:24528249 | rs147358733 | V>I | A:400 | (35.27, -32.39, -86.64) |
| 6:24528250 | V>D | A:400 | (35.27, -32.39, -86.64) | |
| 6:24528262 | rs139719918 | A>G | A:404 | (31.92, -33.32, -88.77) |
| 6:24528267 | rs143741652 | V>I | A:406 | (29.71, -27.79, -85.29) |
| 6:24528268 | V>A | A:406 | (29.71, -27.79, -85.29) | |
| 6:24528274 | T>R | A:408 | (25.71, -26.26, -81.28) | |
| 6:24528277 | rs118203984 | G>D | A:409 | (28.78, -26.14, -79.46) |
| 6:24528286 | R>Q | A:412 | (36.09, -27.96, -71.63) | |
| 6:24528301 | K>R | A:417 | (34.89, -26.48, -62.99) | |
| 6:24528303 | N>H | A:418 | (33.35, -30.90, -64.85) | |
| 6:24528308 | COSM183754 | F>L | A:419 | (29.99, -27.31, -66.16) |
| 6:24528315 | P>S | A:422 | (25.23, -28.23, -75.19) | |
| 6:24528331 | rs149793005 | N>S | A:427 | (27.39, -33.85, -91.79) |
| 6:24528347 | rs144751488 | M>I | A:432 | (32.51, -40.69, -86.57) |
| 6:24528359 | rs199500997 | H>Q | A:436 | (33.97, -42.87, -78.83) |
| 6:24528360 | E>K | A:437 | (31.07, -47.41, -78.04) | |
| 6:24528361 | rs201834553 | E>G | A:437 | (31.07, -47.41, -78.04) |
| 6:24528367 | rs139633130 | T>I | A:439 | (31.09, -41.36, -74.45) |
| 6:24528390 | I>V | A:447 | (23.95, -40.36, -89.03) | |
| 6:24528394 | K>R | A:448 | (21.80, -38.07, -93.80) | |
| 6:24532351 | rs144177566 | D>N | A:450 | (18.54, -42.73, -97.88) |
| 6:24532357 | COSM3623226 | E>Q | A:452 | (13.20, -48.91, -93.15) |
| 6:24532360 | E>Q | A:453 | (17.31, -52.07, -95.60) | |
| 6:24532378 | A>S | A:459 | (21.18, -49.70, -85.58) | |
| 6:24532384 | COSM3829760 | A>T | A:461 | (25.45, -52.57, -85.82) |
| 6:24533743 | Y>D | A:471 | (9.66, -39.98, -82.92) | |
| 6:24533744 | rs71555150 | Y>S | A:471 | (9.66, -39.98, -82.92) |
| 6:24533747 | S>F | A:472 | (6.55, -42.73, -87.29) | |
| 6:24533753 | rs142482046 | D>A | A:474 | (3.67, -45.91, -91.01) |
| 6:24533763 | Q>H | A:477 | (7.64, -47.66, -90.48) | |
| 6:24533777 | A>V | A:482 | (9.89, -52.51, -83.34) | |
| 6:24533801 | V>G | A:490 | (11.31, -49.75, -78.35) | |
| 6:24533806 | rs151294087 | V>I | A:492 | (7.09, -45.51, -80.45) |
| 6:24533810 | N>S | A:493 | (6.41, -41.53, -81.45) | |
| 6:24533812 | rs374232934 | E>K | A:494 | (8.13, -41.00, -76.14) |
| 6:24533821 | I>V | A:497 | (10.87, -45.55, -71.94) | |
| 6:24533831 | V>A | A:500 | (8.04, -49.42, -62.37) | |
| 6:24533861 | rs578023593 | S>F | A:510 | (23.46, -55.03, -73.13) |
| 6:24533863 | rs377658514 | G>S | A:511 | (22.64, -58.25, -70.88) |
| 6:24533867 | L>R | A:512 | (21.90, -60.97, -68.42) | |
| 6:24533886 | K>N | A:518 | (5.22, -59.64, -64.83) | |
| 6:24533897 | D>G | A:522 | (11.44, -64.00, -61.99) | |
| 6:24533929 | rs72552284 | G>R | A:533 | (3.49, -89.67, -54.70) |
| 6:24533935 | rs140568460 | L>M | A:535 | (-1.03, -91.26, -55.00) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 6:24502755 | COSM2152179 | R>K | A:120 | (8.12, -60.48, -47.52) |
| 6:24502805 | COSM1442472 | D>Y | A:137 | (15.77, -34.11, -48.00) |
| 6:24503590 | COSM4003827 | H>Y | A:180 | (-2.16, -83.89, -65.62) |
| 6:24503597 | COSM4003828 | P>L | A:182 | (0.40, -88.96, -67.39) |
| 6:24505196 | COSM3727910 | A>T | A:237 | (22.52, -45.85, -50.28) |
| 6:24515510 | COSM2856695 | S>F | A:281 | (22.79, -57.62, -59.27) |
| 6:24523088 | COSM2856703 | V>I | A:370 | (24.63, -24.78, -68.25) |
| 6:24528249 | COSM1076489 | V>I | A:400 | (35.27, -32.39, -86.64) |
| 6:24533825 | COSM3921155 | S>F | A:498 | (10.65, -44.67, -67.69) |