General Structure Information
| PDB ID | 2j6l |
| HGNC Gene Label(s) | ALDH7A1 |
| Structure Name | structure of aminoadipate-semialdehyde dehydrogenase |
| Resolution | 1.3Å |
| Reference | AUTH C.BROCKER,N.LASSEN,T.ESTEY,A.PAPPA,M.CANTORE,V.V.ORLOVA,AUTH 2 T.CHAVAKIS,K.L.KAVANAGH,U.OPPERMANN,V.VASILIOUTITL ALDEHYDE DEHYDROGENASE 7A1 (ALDH7A1) IS A NOVEL ENZYMETITL 2 INVOLVED IN CELLULAR DEFENSE AGAINST HYPEROSMOTIC STRESS.REF J.BIOL.CHEM. V. 285 18452 2010REFN ISSN 0021-9258PMID 20207735DOI 10.1074/JBC.M109.077925 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 498 |
| Number Of SNVs | 133 |
| Number Of Permutations | 36063 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.035 |
| p-value | 0.626 |
ClinVar
| Number Of Residues | 498 |
| Number Of SNVs | 13 |
| Number Of Permutations | 3174 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.436 |
| p-value | 0.011 |
COSMIC
| Number Of Residues | 498 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1942 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | 0.167 |
| p-value | 0.83 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 133 |
| Number Of ClinVar SNVs | 13 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.213 |
| p-value | 0.025 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 133 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | -0.284 |
| p-value | 0.649 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:125930799 | COSM4165094 COSM4165095 |
T>I | F:4 | (80.45, 84.21, 61.52) |
| 5:125930794 | L>F | F:6 | (79.02, 90.81, 59.17) | |
| 5:125930789 | I>M | F:7 | (75.98, 92.22, 63.51) | |
| 5:125930791 | I>V | F:7 | (75.98, 92.22, 63.51) | |
| 5:125930787 | rs547648880 | N>S | F:8 | (78.94, 89.96, 65.90) |
| 5:125930772 | A>V | F:13 | (78.56, 98.37, 64.54) | |
| 5:125930737 | E>Q | F:25 | (62.19, 90.31, 66.77) | |
| 5:125929089 | rs543181020 | T>M | F:40 | (70.49, 83.97, 57.64) |
| 5:125929086 | rs58528748 | T>N | F:41 | (70.55, 87.68, 55.66) |
| 5:125929081 | C>R | F:43 | (76.73, 90.11, 51.79) | |
| 5:125929066 | E>K | F:48 | (80.21, 86.44, 54.64) | |
| 5:125929063 | P>S | F:49 | (76.91, 85.88, 57.28) | |
| 5:125929060 | I>L | F:50 | (74.50, 90.08, 57.93) | |
| 5:125929057 | A>T | F:51 | (71.90, 88.42, 60.45) | |
| 5:125929053 | R>T | F:52 | (70.28, 85.09, 63.16) | |
| 5:125928417 | S>N | F:57 | (53.78, 81.89, 62.03) | |
| 5:125928418 | S>R | F:57 | (53.78, 81.89, 62.03) | |
| 5:125928405 | rs376294954 | Y>F | F:61 | (48.84, 86.34, 58.51) |
| 5:125928406 | rs368517032 | Y>H | F:61 | (48.84, 86.34, 58.51) |
| 5:125928403 | E>Q | F:62 | (45.79, 84.73, 61.52) | |
| 5:125928385 | rs551163406 | A>T | F:68 | (45.22, 95.49, 61.92) |
| 5:125928381 | R>I | F:69 | (40.98, 94.84, 59.90) | |
| 5:125919661 | D>G | F:92 | (61.38, 113.86, 60.11) | |
| 5:125919659 | A>P | F:93 | (62.64, 109.43, 61.18) | |
| 5:125919655 | rs145329188 | L>S | F:94 | (63.21, 107.90, 57.55) |
| 5:125919653 | rs370624118 | R>W | F:95 | (64.53, 113.53, 56.89) |
| 5:125919644 | rs117295656 | I>V | F:98 | (69.46, 108.66, 55.44) |
| 5:125919631 | G>E | F:102 | (71.68, 102.89, 53.18) | |
| 5:125918666 | V>M | F:105 | (70.40, 98.91, 51.23) | |
| 5:125918645 | I>L | F:112 | (75.65, 102.04, 44.72) | |
| 5:125918574 | R>S | F:135 | (45.25, 119.37, 54.80) | |
| 5:125918575 | R>K | F:135 | (45.25, 119.37, 54.80) | |
| 5:125918569 | I>T | F:137 | (42.25, 113.01, 49.75) | |
| 5:125918566 | rs375491094 CM0910579 |
G>A | F:138 | (38.80, 113.33, 46.92) |
| 5:125918558 | I>V | F:141 | (30.09, 118.59, 44.83) | |
| 5:125912894 | H>R | F:149 | (18.15, 115.77, 45.09) | |
| 5:125912891 | A>E | F:150 | (22.95, 116.12, 46.41) | |
| 5:125912892 | rs140102105 | A>P | F:150 | (22.95, 116.12, 46.41) |
| 5:125912885 | I>T | F:152 | (28.55, 113.47, 47.03) | |
| 5:125912883 | E>K | F:153 | (33.05, 111.31, 44.15) | |
| 5:125912871 | P>A | F:157 | (39.15, 103.79, 53.58) | |
| 5:125912868 | rs61757685 | V>I | F:158 | (40.15, 99.76, 51.41) |
| 5:125912846 | rs376917645 | T>M | F:165 | (58.17, 93.98, 48.52) |
| 5:125912844 | COSM3661347 COSM3661348 |
A>T | F:166 | (61.13, 93.27, 46.05) |
| 5:125912837 | rs372660425 CM087549 |
N>S | F:168 | (65.02, 95.61, 43.61) |
| 5:125912832 | P>S | F:170 | (64.29, 97.34, 49.71) | |
| 5:125912829 | V>M | F:171 | (63.00, 101.09, 51.26) | |
| 5:125912819 | Y>C | F:174 | (56.54, 99.97, 52.97) | |
| 5:125912814 | rs555896752 CM104035 |
W>G | F:176 | (56.99, 104.36, 45.91) |
| 5:125912802 | I>V | F:180 | (49.72, 107.04, 49.68) | |
| 5:125912799 | A>T | F:181 | (47.87, 104.19, 52.56) | |
| 5:125912794 | M>I | F:182 | (49.20, 105.85, 56.40) | |
| 5:125912791 | I>M | F:183 | (47.19, 109.72, 53.68) | |
| 5:125912775 | L>F | F:189 | (50.64, 93.53, 56.26) | |
| 5:125911151 | rs202084501 | G>A | F:192 | (59.20, 91.10, 52.18) |
| 5:125911143 | T>A | F:195 | (66.92, 88.41, 50.70) | |
| 5:125911134 | COSM177397 | L>F | F:198 | (67.93, 92.86, 58.17) |
| 5:125911128 | S>G | F:200 | (62.12, 95.14, 56.56) | |
| 5:125911125 | rs201832111 | V>M | F:201 | (63.28, 94.93, 60.68) |
| 5:125906541 | K>E | F:209 | (59.86, 105.58, 67.94) | |
| 5:125906526 | N>H | F:214 | (52.03, 109.56, 68.35) | |
| 5:125906517 | rs140701322 | P>T | F:217 | (47.91, 101.45, 67.05) |
| 5:125906499 | L>M | F:223 | (56.42, 93.16, 59.68) | |
| 5:125906477 | I>T | F:230 | (53.09, 84.76, 54.44) | |
| 5:125904041 | M>V | F:234 | (48.79, 88.32, 51.97) | |
| 5:125904020 | N>Y | F:241 | (40.78, 94.90, 51.64) | |
| 5:125903998 | S>N | F:248 | (57.58, 88.50, 39.22) | |
| 5:125903983 | K>R | F:253 | (49.72, 85.26, 36.33) | |
| 5:125903979 | Q>H | F:254 | (49.45, 83.06, 39.94) | |
| 5:125903980 | Q>R | F:254 | (49.45, 83.06, 39.94) | |
| 5:125903969 | M>V | F:258 | (45.04, 83.98, 44.32) | |
| 5:125896813 | R>I | F:265 | (40.74, 96.82, 45.49) | |
| 5:125896804 | L>W | F:268 | (49.88, 94.06, 39.98) | |
| 5:125896789 | N>T | F:273 | (62.07, 94.13, 28.28) | |
| 5:125896786 | rs121912711 | N>I | F:274 | (62.86, 98.27, 29.74) |
| 5:125896781 | COSM1541605 COSM1541606 |
I>V | F:276 | (66.99, 102.77, 24.94) |
| 5:125895017 | D>G | F:281 | (68.49, 113.00, 15.58) | |
| 5:125895000 | V>L | F:287 | (72.99, 108.08, 24.04) | |
| 5:125894993 | rs572990686 | P>L | F:289 | (75.92, 108.37, 29.06) |
| 5:125894990 | rs148052962 | S>L | F:290 | (72.08, 107.35, 29.23) |
| 5:125894985 | L>V | F:292 | (76.35, 103.20, 31.11) | |
| 5:125894979 | A>T | F:294 | (70.30, 102.10, 32.23) | |
| 5:125894975 | A>V | F:295 | (72.14, 99.05, 31.83) | |
| 5:125894942 | rs144625212 | A>V | F:306 | (68.05, 98.77, 30.00) |
| 5:125894936 | R>Q | F:308 | (64.59, 96.09, 24.43) | |
| 5:125891706 | F>C | F:310 | (66.11, 99.07, 19.56) | |
| 5:125891704 | rs374248561 | I>V | F:311 | (71.15, 101.77, 17.53) |
| 5:125891700 | rs199767457 | H>R | F:312 | (69.70, 104.47, 12.48) |
| 5:125891701 | H>Y | F:312 | (69.70, 104.47, 12.48) | |
| 5:125891694 | rs141701364 | S>N | F:314 | (73.92, 105.42, 11.09) |
| 5:125891680 | V>I | F:319 | (76.90, 103.74, 20.07) | |
| 5:125891677 | V>I | F:320 | (78.63, 99.68, 20.28) | |
| 5:125891673 | N>S | F:321 | (82.61, 101.07, 19.60) | |
| 5:125891670 | rs553114356 | R>T | F:322 | (80.92, 106.49, 22.11) |
| 5:125891665 | K>E | F:324 | (82.94, 98.29, 23.61) | |
| 5:125891653 | COSM1432756 | A>T | F:328 | (86.09, 99.36, 30.80) |
| 5:125891650 | rs138675705 | Q>E | F:329 | (86.10, 103.49, 31.64) |
| 5:125891647 | I>V | F:330 | (82.78, 100.43, 35.12) | |
| 5:125891643 | rs144671885 | R>L | F:331 | (84.34, 101.63, 39.16) |
| 5:125891631 | P>L | F:335 | (78.57, 98.35, 47.44) | |
| 5:125891632 | rs532800318 | P>S | F:335 | (78.57, 98.35, 47.44) |
| 5:125891623 | rs370869432 | P>S | F:338 | (82.49, 105.82, 48.41) |
| 5:125890029 | rs140947675 | A>T | F:357 | (71.54, 84.20, 29.05) |
| 5:125890023 | E>K | F:359 | (75.19, 79.93, 26.06) | |
| 5:125890019 | E>A | F:360 | (70.35, 80.62, 25.42) | |
| 5:125889996 | rs373304485 | V>M | F:368 | (79.64, 88.77, 23.58) |
| 5:125889989 | Y>F | F:370 | (82.49, 94.33, 27.75) | |
| 5:125887819 | COSM272328 COSM3918543 |
R>H | F:377 | (85.82, 90.51, 42.48) |
| 5:125887820 | rs181287032 | R>C | F:377 | (85.82, 90.51, 42.48) |
| 5:125887813 | G>A | F:379 | (81.12, 87.57, 45.14) | |
| 5:125887798 | P>L | F:384 | (79.15, 94.40, 32.46) | |
| 5:125887796 | rs2306618 | T>A | F:385 | (77.06, 92.10, 29.04) |
| 5:125887793 | rs201792544 | I>V | F:386 | (77.36, 94.47, 25.24) |
| 5:125887786 | T>R | F:388 | (75.63, 92.21, 18.98) | |
| 5:125887787 | T>S | F:388 | (75.63, 92.21, 18.98) | |
| 5:125887772 | D>N | F:393 | (62.30, 88.06, 17.17) | |
| 5:125887768 | A>V | F:394 | (64.75, 86.73, 20.33) | |
| 5:125887763 | I>V | F:396 | (66.89, 85.73, 25.49) | |
| 5:125887753 | T>I | F:399 | (63.21, 87.13, 28.50) | |
| 5:125887754 | rs150305320 | T>A | F:399 | (63.21, 87.13, 28.50) |
| 5:125887751 | rs121912707 | E>Q | F:400 | (62.93, 90.07, 33.14) |
| 5:125887744 | F>S | F:402 | (66.67, 91.27, 37.42) | |
| 5:125887738 | rs151107837 | P>L | F:404 | (74.02, 92.90, 33.55) |
| 5:125887734 | rs372127110 | I>M | F:405 | (72.41, 91.22, 29.62) |
| 5:125887729 | COSM69612 | Y>C | F:407 | (69.93, 91.65, 24.92) |
| 5:125887715 | rs12514417 | K>Q | F:412 | (66.17, 101.14, 8.58) |
| 5:125885947 | K>N | F:425 | (54.12, 89.94, 26.42) | |
| 5:125885934 | S>R | F:430 | (60.18, 103.79, 27.38) | |
| 5:125885928 | rs186558364 | I>V | F:432 | (62.90, 108.30, 22.34) |
| 5:125885897 | rs147940248 | R>H | F:442 | (55.09, 110.85, 15.83) |
| 5:125885898 | COSM3975135 COSM3975136 |
R>C | F:442 | (55.09, 110.85, 15.83) |
| 5:125885668 | rs144701796 | V>A | F:454 | (56.91, 107.43, 27.79) |
| 5:125885653 | P>L | F:459 | (67.05, 107.23, 30.81) | |
| 5:125882068 | rs556400964 CM087547 |
G>R | F:478 | (49.69, 99.61, 38.35) |
| 5:125882061 | E>A | F:480 | (53.23, 102.81, 42.88) | |
| 5:125882047 | A>T | F:485 | (47.39, 106.66, 42.77) | |
| 5:125882034 | rs200102503 | Y>C | F:489 | (46.26, 102.83, 47.77) |
| 5:125882031 | M>T | F:490 | (40.50, 105.11, 48.69) | |
| 5:125882025 | rs561343926 | R>K | F:492 | (34.71, 105.96, 43.09) |
| 5:125882020 | T>A | F:494 | (28.12, 107.73, 43.85) | |
| 5:125882017 | C>S | F:495 | (26.47, 110.00, 46.96) | |
| 5:125880710 | rs61757684 | T>A | F:496 | (22.13, 110.84, 45.93) |
| 5:125880707 | COSM26015 | I>V | F:497 | (21.77, 113.69, 49.53) |
| 5:125880703 | N>S | F:498 | (16.38, 113.92, 49.16) | |
| 5:125880698 | S>G | F:500 | (13.64, 118.07, 50.06) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:125919644 | rs117295656 | I>V | F:98 | (69.46, 108.66, 55.44) |
| 5:125918566 | rs375491094 | G>A | F:138 | (38.80, 113.33, 46.92) |
| 5:125912825 | rs121912709 | A>V | F:172 | (60.84, 102.63, 48.13) |
| 5:125912814 | rs555896752 | W>G | F:176 | (56.99, 104.36, 45.91) |
| 5:125903996 | rs796052260 | T>P | F:249 | (55.20, 88.55, 35.77) |
| 5:125896786 | rs121912711 | N>I | F:274 | (62.86, 98.27, 29.74) |
| 5:125894936 | rs754449549 | R>Q | F:308 | (64.59, 96.09, 24.43) |
| 5:125887796 | rs2306618 | T>A | F:385 | (77.06, 92.10, 29.04) |
| 5:125887749 | rs796052271 | E>D | F:400 | (62.93, 90.07, 33.14) |
| 5:125887751 | rs121912707 | E>Q | F:400 | (62.93, 90.07, 33.14) |
| 5:125887729 | rs747597620 | Y>C | F:407 | (69.93, 91.65, 24.92) |
| 5:125887715 | rs12514417 | K>Q | F:412 | (66.17, 101.14, 8.58) |
| 5:125885928 | rs186558364 | I>F | F:432 | (62.90, 108.30, 22.34) |
| 5:125882068 | rs556400964 | G>R | F:478 | (49.69, 99.61, 38.35) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:125918591 | COSM3733594 | A>S | F:130 | (51.47, 112.98, 51.72) |
| 5:125912844 | COSM3661348 | A>T | F:166 | (61.13, 93.27, 46.05) |
| 5:125887819 | COSM3918543 | R>H | F:377 | (85.82, 90.51, 42.48) |
| 5:125887820 | COSM3608093 | R>C | F:377 | (85.82, 90.51, 42.48) |
| 5:125887777 | COSM4411021 | G>D | F:391 | (66.98, 89.46, 16.94) |