P05091
PR
Gene name |
ALDH2 (ALDM) |
Protein name |
Aldehyde dehydrogenase, mitochondrial |
Names |
ALDH class 2, ALDH-E2, ALDHI |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:217 |
EC number |
1.2.1.3: With NAD(+) or NADP(+) as acceptor |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
30 structures for P05091
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1CW3 | X-ray | 258 A | A/B/C/D/E/F/G/H | 24-517 | PDB |
| 1NZW | X-ray | 265 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 1NZX | X-ray | 245 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 1NZZ | X-ray | 245 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 1O00 | X-ray | 260 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 1O01 | X-ray | 215 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 1O02 | X-ray | 190 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 1O04 | X-ray | 142 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 1O05 | X-ray | 225 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 1ZUM | X-ray | 210 A | A/B/C/D/E/F/G/H/I/J/K/L | 18-517 | PDB |
| 2ONM | X-ray | 250 A | A/B/C/D/E/F/G/H/I/J/K/L | 18-517 | PDB |
| 2ONN | X-ray | 275 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 2ONO | X-ray | 215 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 2ONP | X-ray | 200 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 2VLE | X-ray | 240 A | A/B/C/D/E/F/G/H | 24-517 | PDB |
| 3INJ | X-ray | 169 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 3INL | X-ray | 186 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 3N80 | X-ray | 150 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 3N81 | X-ray | 170 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 3N82 | X-ray | 225 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 3N83 | X-ray | 190 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 3SZ9 | X-ray | 210 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 4FQF | X-ray | 228 A | A/B/C/D | 18-517 | PDB |
| 4FR8 | X-ray | 220 A | A/B/C/D/E/F/G/H | 18-517 | PDB |
| 4KWF | X-ray | 231 A | A/B/C/D/E/F/G/H | 24-517 | PDB |
| 4KWG | X-ray | 210 A | A/B/C/D/E/F/G/H | 24-517 | PDB |
| 5L13 | X-ray | 240 A | A/B/C/D/E/F/G/H | 1-517 | PDB |
| 8DR9 | X-ray | 150 A | A/B | 18-517 | PDB |
| 8SHS | EM | 266 A | A/B/C/D | 1-517 | PDB |
| AF-P05091-F1 | Predicted | AlphaFoldDB |
421 variants for P05091
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002502822 rs543030829 RCV000926320 CA6792995 |
244 | T>M | Alcohol sensitivity, acute [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000714672 rs201835306 CA6793021 |
268 | R>C | Variant assessed as Somatic; 0.0 impact. Alcohol sensitivity, acute [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000020060 RCV000020058 RCV000020061 rs671 RCV001787815 RCV000020062 CA128085 VAR_002248 RCV000020059 RCV001290000 |
504 | E>K | Susceptibility to hangover Sublingual nitroglycerin, susceptibility to poor response to Alcohol dependence Esophageal cancer, alcohol-related, susceptibility to AMED syndrome, digenic Alcohol sensitivity, acute AMEDS; allele ALDH2*2; drastic reduction of enzyme activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1373907435 CA386738524 |
3 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA386738518 rs1373907435 |
3 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs893145442 CA243640073 |
4 | A>V | No |
ClinGen TOPMed |
|
|
CA243640076 rs551088152 |
5 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA386738585 rs1336401827 |
6 | A>P | No |
ClinGen gnomAD |
|
|
CA386738590 rs1336401827 |
6 | A>S | No |
ClinGen gnomAD |
|
|
CA386738601 rs1213920796 |
6 | A>V | No |
ClinGen gnomAD |
|
|
CA386738604 rs766577822 |
7 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766577822 CA6792762 |
7 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566590864 CA6792763 |
7 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566590864 CA386738613 |
7 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386738634 rs1311306580 |
9 | G>R | No |
ClinGen TOPMed |
|
|
rs1286567155 CA386738655 |
10 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386738683 rs1215850690 |
12 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 13 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755268259 CA6792765 |
16 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916384497 CA243640099 |
16 | L>R | No |
ClinGen Ensembl |
|
|
rs372948453 CA243640103 |
17 | L>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA386738776 rs1441105785 |
19 | A>S | No |
ClinGen gnomAD |
|
|
rs1002692747 CA243640111 |
20 | A>T | No |
ClinGen TOPMed |
|
|
CA386738805 rs1395989016 |
21 | A>T | No |
ClinGen gnomAD |
|
|
rs1330573776 CA386738860 |
23 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1414093989 CA386738879 |
24 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs866937515 CA243640126 |
26 | P>T | No |
ClinGen Ensembl |
|
|
rs1356795930 CA386738928 |
27 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1356795930 CA386738924 |
27 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386738941 rs1233413221 |
27 | A>V | No |
ClinGen gnomAD |
|
|
rs1269099351 CA386738963 |
28 | P>L | No |
ClinGen gnomAD |
|
|
rs923676854 CA243640140 |
29 | N>D | No |
ClinGen Ensembl |
|
|
rs923676854 CA386738968 |
29 | N>H | No |
ClinGen Ensembl |
|
|
CA6792768 rs756057023 |
29 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243640147 rs1035974154 |
30 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA386738991 rs1035974154 |
30 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386739039 rs1187692647 |
31 | Q>H | No |
ClinGen TOPMed |
|
|
rs1275543545 CA386739032 |
31 | Q>R | No |
ClinGen gnomAD |
|
|
CA386739096 rs1256069672 |
33 | E>D | No |
ClinGen gnomAD |
|
|
rs1483619171 CA386739062 |
33 | E>K | No |
ClinGen gnomAD |
|
|
rs1210769557 CA386739084 |
33 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386739115 rs1593066220 |
34 | V>G | No |
ClinGen Ensembl |
|
|
rs1486957538 CA386739101 |
34 | V>I | No |
ClinGen gnomAD |
|
|
rs1373721845 CA386739120 |
35 | F>L | No |
ClinGen gnomAD |
|
|
rs894390809 CA243640152 |
35 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386739139 rs1188279074 |
36 | C>R | No |
ClinGen gnomAD |
|
|
CA6792784 rs200757003 |
39 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141574314 CA6792786 |
41 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141574314 CA6792785 RCV000896245 |
41 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 42 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386740585 rs1166611498 |
43 | N>Y | No |
ClinGen gnomAD |
|
|
CA243646239 rs1041272106 |
45 | W>C | No |
ClinGen TOPMed |
|
|
CA243646244 rs1052140419 |
47 | D>N | No |
ClinGen gnomAD |
|
|
rs757254188 CA6792788 |
48 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289574555 CA386740630 |
49 | V>A | No |
ClinGen gnomAD |
|
|
rs778279256 CA6792789 |
49 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778279256 CA6792790 |
49 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771649244 CA6792791 |
53 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA386740659 rs1282307132 |
53 | T>I | No |
ClinGen TOPMed |
|
|
rs1413973403 CA386740677 |
56 | T>N | No |
ClinGen TOPMed |
|
|
rs775156542 CA6792792 COSM1182487 COSM1182488 |
57 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6792793 rs748467000 |
58 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792795 rs773666853 |
59 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386740714 rs1444791238 |
62 | G>V | No |
ClinGen gnomAD |
|
|
CA386740716 rs1306772717 |
63 | E>* | No |
ClinGen gnomAD |
|
|
rs1415509427 CA386740744 |
67 | Q>* | No |
ClinGen gnomAD |
|
|
rs763365886 CA6792796 |
68 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs771527950 CA6792797 |
70 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6792798 rs774238705 |
71 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs369662183 CA6792799 |
72 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA243646362 rs904582951 |
73 | K>E | No |
ClinGen TOPMed |
|
|
CA386740785 rs1412296559 |
73 | K>R | No |
ClinGen TOPMed |
|
|
rs777988122 CA6792813 |
75 | D>G | No |
ClinGen ExAC |
|
|
CA6792814 rs749678731 |
77 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140347209 CA6792816 |
80 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1414605046 CA386741068 |
80 | V>M | No |
ClinGen TOPMed |
|
|
rs1231820648 CA386741100 |
82 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 83 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375845001 CA6792819 |
83 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6792821 rs760971491 |
84 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792822 rs199624420 |
84 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6792820 rs760971491 |
84 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302337728 CA386741134 |
86 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6792824 rs765039944 |
87 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792825 rs750341773 |
87 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386741190 rs758376495 |
90 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs927328803 CA243647007 |
90 | G>S | No |
ClinGen TOPMed |
|
|
CA6792826 rs758376495 |
90 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs754530560 CA6792829 |
91 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA6792828 rs751128369 |
91 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201582342 CA386741207 |
92 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6792830 RCV000959929 rs201582342 |
92 | P>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1677358 COSM1677357 CA6792831 rs749574153 |
93 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1453018126 CA386741235 |
94 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6792832 rs201745983 |
94 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140919090 CA6792833 |
95 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs940553638 CA243647065 COSM340367 COSM340366 |
95 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA243647068 rs923192135 |
98 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386741285 rs923192135 |
98 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772769308 CA6792835 |
99 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775694148 CA6792836 |
100 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs747096195 CA6792838 |
101 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792841 rs761993467 |
103 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6792840 rs150202179 |
103 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773061919 COSM935101 COSM935102 CA6792843 |
107 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6792844 rs141696414 |
107 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243647128 rs141696414 |
107 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386741406 rs1236726903 |
108 | L>V | No |
ClinGen TOPMed |
|
|
CA6792845 rs766318505 |
109 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs147086207 CA6792848 |
110 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147086207 CA386741433 |
110 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792849 rs147086207 |
110 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386741449 rs1180736344 |
111 | L>M | No |
ClinGen gnomAD |
|
|
CA386741455 rs1225933656 |
111 | L>Q | No |
ClinGen gnomAD |
|
|
rs755761896 CA6792850 |
113 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386741484 rs1164339131 |
113 | E>D | No |
ClinGen gnomAD |
|
|
rs755761896 CA6792851 |
113 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792853 rs758915089 |
114 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190764869 COSM935104 COSM935103 CA6792852 |
114 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6792854 rs376099569 COSM467800 COSM467801 |
115 | D>N | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs747014064 CA6792855 |
116 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386741515 rs1439916433 |
116 | R>W | No |
ClinGen gnomAD |
|
|
CA243647195 rs983677742 |
118 | Y>C | No |
ClinGen gnomAD |
|
|
rs768761406 CA6792856 |
118 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386741563 rs1290928984 |
120 | A>T | No |
ClinGen gnomAD |
|
|
COSM1182485 rs1357957696 CA16040266 COSM1182486 |
120 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA386741986 rs1390568209 |
121 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1434025306 CA386742001 |
123 | E>K | No |
ClinGen gnomAD |
|
|
rs367911769 CA6792879 |
127 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243648356 rs997054274 |
127 | N>T | No |
ClinGen Ensembl |
|
|
rs1348458158 CA386742051 |
130 | P>R | No |
ClinGen TOPMed |
|
|
rs774052763 CA6792881 |
131 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759512257 CA6792882 |
132 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771960765 CA6792884 |
136 | L>V | No |
ClinGen ExAC |
|
|
rs760105168 CA6792887 |
137 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6792888 rs141373324 |
140 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1400652984 CA386742192 |
141 | M>V | No |
ClinGen gnomAD |
|
|
rs1566186033 CA386742212 |
142 | V>F | No |
ClinGen Ensembl |
|
|
CA6792891 rs766849182 |
144 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs753520756 CA6792890 |
144 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753520756 CA6792889 |
144 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371993659 CA6792893 |
147 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751931265 CA6792892 |
147 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6792913 rs753125040 |
149 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA386742839 rs1372973709 |
149 | Y>N | No |
ClinGen TOPMed |
|
|
rs756650696 CA6792914 |
150 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA243652163 COSM110261 COSM110260 rs141629803 |
150 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 150 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386742853 rs1350815781 |
151 | G>D | No |
ClinGen TOPMed |
|
|
rs1181066073 CA386742850 |
151 | G>S | No |
ClinGen gnomAD |
|
|
CA386742875 rs1409097813 |
154 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA243652173 rs1009289495 |
155 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6792918 CA6792919 rs779006912 |
158 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386742922 rs1292082158 |
161 | I>V | No |
ClinGen gnomAD |
|
|
CA6792921 rs779941847 |
162 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6792920 rs758149074 |
162 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746940858 CA6792922 |
163 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386742944 rs533704716 |
164 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs144375294 CA6792923 |
165 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1289076687 CA386742952 |
166 | D>Y | No |
ClinGen gnomAD |
|
|
rs776223807 CA6792924 |
168 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA386742978 rs1242966205 |
169 | S>T | No |
ClinGen gnomAD |
|
|
CA386742985 rs1482640727 |
170 | Y>C | No |
ClinGen TOPMed |
|
|
rs375708006 CA243652334 |
171 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375708006 CA6792926 |
171 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792927 rs368356402 |
172 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368356402 CA386742994 |
172 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6792928 rs762718195 |
172 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA386742996 rs762718195 |
172 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs767739457 CA6792929 |
175 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1256200461 CA386743033 |
177 | G>R | No |
ClinGen gnomAD |
|
|
CA386743042 rs1421685556 |
177 | G>V | No |
ClinGen gnomAD |
|
|
CA386743045 rs1229106656 |
178 | V>L | No |
ClinGen TOPMed |
|
|
CA386743083 rs1168388936 |
180 | G>A | No |
ClinGen gnomAD |
|
|
rs764594848 CA6792932 |
180 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386743099 rs1412224066 |
181 | Q>H | No |
ClinGen gnomAD |
|
|
rs1368794348 CA386743121 |
183 | I>V | No |
ClinGen TOPMed |
|
|
rs191240032 CA6792934 |
184 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs191240032 CA386743140 |
184 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1477956827 CA386743138 |
184 | P>S | No |
ClinGen gnomAD |
|
|
CA386743803 rs1239594775 |
188 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 188 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386743852 rs1211562547 |
192 | Q>P | No |
ClinGen gnomAD |
|
|
CA6792956 rs766713154 |
199 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1451759477 CA386743966 |
200 | L>F | No |
ClinGen gnomAD |
|
|
CA243652740 rs868852015 COSM1165538 COSM1165539 |
203 | G>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA243652742 rs780065997 |
204 | N>D | No |
ClinGen Ensembl |
|
|
rs1227213007 CA386744029 |
205 | V>A | No |
ClinGen gnomAD |
|
|
rs754845817 CA6792958 |
205 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431960346 CA386744041 |
206 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 209 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6792959 rs781185157 |
209 | K>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756140607 CA6792961 |
210 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6792965 rs377123780 COSM1358794 COSM1358795 |
218 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 218 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386744181 rs1365317428 |
219 | L>P | No |
ClinGen gnomAD |
|
|
rs747323948 CA6792966 |
220 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540073928 CA6792967 |
222 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6792969 rs777018900 |
225 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770348553 CA6792970 |
227 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA386744229 rs1269576058 |
227 | E>Q | No |
ClinGen gnomAD |
|
|
CA243653583 rs868143172 |
228 | A>V | No |
ClinGen Ensembl |
|
|
rs1180015746 CA386744291 |
230 | F>L | No |
ClinGen gnomAD |
|
|
CA386744311 rs1459586779 |
231 | P>H | No |
ClinGen gnomAD |
|
|
rs1324659938 CA386744305 |
231 | P>S | No |
ClinGen TOPMed |
|
|
CA6792988 rs748550381 |
235 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs529768244 CA243653589 |
237 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386744391 rs1369803569 |
237 | I>M | No |
ClinGen gnomAD |
|
|
CA6792989 rs529768244 |
237 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749694206 CA6792990 |
238 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350645433 CA386744411 |
239 | P>H | No |
ClinGen gnomAD |
|
|
CA6792992 rs771107075 |
240 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA386744417 rs1391739056 |
240 | G>R | No |
ClinGen gnomAD |
|
|
rs1282117386 CA386744453 |
242 | G>A | No |
ClinGen gnomAD |
|
|
CA386744451 rs1282117386 |
242 | G>D | No |
ClinGen gnomAD |
|
|
rs1203722954 CA386744507 |
247 | A>P | No |
ClinGen gnomAD |
|
|
rs1203722954 CA386744505 |
247 | A>T | No |
ClinGen gnomAD |
|
|
rs1276830351 CA386744514 |
247 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386744519 rs760546011 |
248 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6792997 rs760546011 |
248 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593079398 CA386744529 |
249 | I>L | No |
ClinGen Ensembl |
|
|
CA6792998 rs111540940 |
250 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1706285 CA386744564 COSM1706284 rs1183910112 |
251 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs753791195 CA6792999 |
252 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313192450 CA386744581 |
253 | E>K | No |
ClinGen TOPMed |
|
|
CA386744588 rs1427737970 |
254 | D>H | No |
ClinGen gnomAD |
|
|
rs1170455696 CA386744592 |
254 | D>V | No |
ClinGen gnomAD |
|
|
rs544714733 CA6793000 |
255 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs544714733 CA6793001 |
255 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749950720 CA6793002 |
256 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs909475464 CA243653648 |
259 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs909475464 CA386744624 |
259 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765859442 CA6793022 |
268 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6793024 rs754656921 |
269 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386744718 rs1181566700 |
273 | A>T | No |
ClinGen gnomAD |
|
|
rs749680221 CA6793026 |
274 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749680221 CA386744724 |
274 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157814805 CA386744740 |
276 | S>N | No |
ClinGen gnomAD |
|
|
CA6793028 rs139133423 |
277 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243654152 rs139133423 |
277 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593079952 CA386744752 |
278 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 280 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386216952 CA386744767 |
280 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 281 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322199725 CA386744773 |
281 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1566189589 CA386744784 |
283 | T>A | No |
ClinGen Ensembl |
|
|
rs776421832 CA6793037 |
287 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776421832 CA6793039 |
287 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6793036 CA243654228 rs145077856 |
287 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776421832 CA6793038 |
287 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6793035 rs145077856 |
287 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773112716 CA6793040 |
288 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs915072983 CA243654278 |
288 | G>R | No |
ClinGen TOPMed |
|
|
CA386744813 rs773112716 |
288 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs771889973 | 289 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762922297 CA6793043 |
289 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs771889973 | 289 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372262254 CA243654321 |
290 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1490495488 CA386744838 |
292 | N>S | No |
ClinGen gnomAD |
|
|
rs917549049 CA243654323 |
293 | I>L | No |
ClinGen Ensembl |
|
|
CA243654324 rs945203860 |
294 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6793046 rs765912648 |
295 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs148698157 CA6793047 |
298 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6793049 rs142271678 |
299 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs571588910 CA6793075 |
301 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571588910 CA6793074 |
301 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571588910 CA6793073 |
301 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1295248026 CA386745451 |
302 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs201108880 CA6793078 RCV000948904 |
304 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386745555 rs1201887042 |
307 | A>T | No |
ClinGen gnomAD |
|
|
CA386745567 rs1245317237 |
307 | A>V | No |
ClinGen gnomAD |
|
|
CA386745584 rs1188369261 |
308 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs900468458 CA243654902 |
309 | F>V | No |
ClinGen TOPMed |
|
|
rs534531260 CA6793082 |
310 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534531260 COSM1195157 COSM1195156 CA386745615 |
310 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771673604 CA6793085 |
312 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 316 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464707298 CA386745724 |
319 | C>Y | No |
ClinGen gnomAD |
|
|
rs866215108 CA243654932 |
322 | G>D | No |
ClinGen Ensembl |
|
|
rs1407144139 CA386745746 |
322 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6793088 rs372053825 |
324 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763851306 CA6793087 |
324 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6793089 rs763250692 |
325 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1299980962 CA386745778 |
326 | F>L | No |
ClinGen gnomAD |
|
|
CA6793091 COSM307371 rs751980357 |
327 | V>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755579750 CA6793092 |
328 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs376029750 CA6793093 |
329 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1208439702 CA386745856 |
331 | I>T | No |
ClinGen gnomAD |
|
|
CA6793094 rs752792758 |
332 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6793095 rs756266195 |
333 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1051628176 CA243654989 |
336 | V>L | No |
ClinGen Ensembl |
|
|
rs1062136 CA243654994 VAR_011869 |
337 | E>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs749059028 CA6793097 |
338 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs202226446 CA6793096 |
338 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940038003 CA243655009 |
339 | S>N | No |
ClinGen Ensembl |
|
|
CA6793098 rs756978401 |
340 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6793099 rs778805131 |
341 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1686190 CA6793102 rs775082307 COSM1686191 |
342 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6793101 rs767381323 |
342 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs746521872 CA6793103 |
343 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1048844863 CA386746023 |
344 | K>N | No |
ClinGen gnomAD |
|
|
CA6793104 rs768374581 |
345 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6793107 rs766650595 |
346 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM230263 COSM230264 rs776126532 CA6793106 |
346 | R>W | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs774840012 CA6793108 |
347 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774840012 CA386746056 |
347 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386746047 rs1226268597 |
347 | V>M | No |
ClinGen gnomAD |
|
|
CA386746066 rs1593080646 |
348 | V>G | No |
ClinGen Ensembl |
|
|
rs1216986736 CA386746070 |
349 | G>R | No |
ClinGen gnomAD |
|
|
rs1163395653 CA386746105 |
351 | P>R | No |
ClinGen TOPMed |
|
|
CA6793110 rs768020372 |
354 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035257433 CA243655140 |
354 | S>T | No |
ClinGen TOPMed |
|
|
rs1269763447 CA386746181 |
357 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180337830 CA386746231 |
360 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 362 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6793125 rs769503071 |
363 | D>A | No |
ClinGen ExAC |
|
|
rs1330317241 CA386746734 |
363 | D>H | No |
ClinGen gnomAD |
|
|
CA6793126 rs546693939 |
364 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6793127 rs546693939 |
364 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs957788805 CA243659007 |
366 | Q>E | No |
ClinGen Ensembl |
|
|
rs1566192467 CA386746755 |
366 | Q>R | No |
ClinGen Ensembl |
|
|
CA6793128 rs772515139 |
367 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6793129 rs775949935 |
368 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6793131 rs764073001 |
372 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA386746849 rs1593083865 |
374 | I>V | No |
ClinGen Ensembl |
|
|
rs201023185 CA6793132 |
376 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551054294 CA6793133 |
376 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201023185 CA386746882 |
376 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758039402 CA6793136 |
377 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386746902 rs1593083893 |
378 | K>Q | No |
ClinGen Ensembl |
|
|
CA6793138 rs751540537 |
378 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6793140 rs150253385 |
380 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372769067 CA243659097 |
382 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1210886764 CA386746958 |
382 | A>T | No |
ClinGen gnomAD |
|
|
rs372769067 COSM291669 CA6793142 COSM291670 |
382 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1215204240 CA386746976 |
383 | K>T | No |
ClinGen TOPMed |
|
|
CA243659106 rs1012181722 |
384 | L>P | No |
ClinGen TOPMed |
|
|
CA6793145 rs748985887 |
385 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6793146 rs772390903 |
386 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA386747049 rs1419695559 |
389 | G>D | No |
ClinGen gnomAD |
|
|
rs987682297 CA243659113 |
389 | G>R | No |
ClinGen Ensembl |
|
|
CA6793147 rs775896971 |
390 | I>V | No |
ClinGen ExAC |
|
|
rs200738174 CA243659137 |
392 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs761154464 CA6793149 |
394 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1331843613 CA386747111 |
394 | R>H | No |
ClinGen gnomAD |
|
|
CA6793148 rs761154464 |
394 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454878205 CA386747160 |
398 | I>L | No |
ClinGen gnomAD |
|
|
CA6793151 rs149442966 |
400 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201705553 CA243659195 |
403 | F>L | No |
ClinGen Ensembl |
|
|
CA386747208 rs1340214332 CA386747206 |
404 | G>R | No |
ClinGen gnomAD |
|
|
rs1431308860 CA386747228 |
406 | V>M | No |
ClinGen gnomAD |
|
|
CA386747261 rs1174749347 |
408 | D>G | No |
ClinGen gnomAD |
|
|
CA386747278 rs1261454459 |
409 | G>V | No |
ClinGen gnomAD |
|
|
rs1204000870 CA386747283 |
410 | M>V | No |
ClinGen gnomAD |
|
|
rs751415641 CA6793156 |
413 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022047610 CA243660594 |
417 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6793193 rs199811756 |
418 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6793192 rs550022818 |
418 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6793195 rs777079274 |
419 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753304028 CA6793197 |
422 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs999097746 CA243660621 |
423 | Q>E | No |
ClinGen Ensembl |
|
|
rs1053410643 CA243660632 |
424 | I>L | No |
ClinGen Ensembl |
|
|
rs1436002529 CA386747612 |
427 | F>I | No |
ClinGen TOPMed |
|
|
rs374377652 CA6793201 |
430 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750085443 CA6793200 |
430 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144598865 CA6793202 |
431 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386747652 rs1593085146 |
432 | E>D | No |
ClinGen Ensembl |
|
|
rs889843446 CA243660678 |
436 | R>K | No |
ClinGen Ensembl |
|
|
rs749863724 CA6793206 |
437 | A>G | No |
ClinGen ExAC |
|
|
CA386747677 rs1169806518 |
437 | A>T | No |
ClinGen gnomAD |
|
|
CA6793207 rs771107373 |
441 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867446901 CA243660690 |
443 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 445 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338473626 CA386747735 |
446 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386747785 rs1468579650 |
453 | L>W | No |
ClinGen TOPMed |
|
|
CA6793213 rs547207199 |
454 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6793214 rs776526118 |
455 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227548302 CA386747807 |
456 | A>V | No |
ClinGen gnomAD |
|
|
rs764713289 CA6793216 |
457 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386747818 rs1593085230 |
458 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 460 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6793218 rs201405479 |
461 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765981127 CA6793219 |
462 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754387972 CA6793223 |
465 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs757893333 CA6793224 |
465 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1468489165 CA386747868 |
466 | G>A | No |
ClinGen gnomAD |
|
|
rs972388995 CA243660768 |
467 | T>A | No |
ClinGen Ensembl |
|
|
rs759333754 CA6793239 |
469 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1156668990 CA386748059 |
472 | C>Y | No |
ClinGen gnomAD |
|
|
CA386748092 rs1454299460 |
474 | D>G | No |
ClinGen gnomAD |
|
|
rs1346835437 CA386748084 |
474 | D>N | No |
ClinGen gnomAD |
|
|
CA386748148 rs1319756154 |
478 | A>G | No |
ClinGen gnomAD |
|
|
CA386748158 rs1363211124 |
479 | Q>R | No |
ClinGen gnomAD |
|
|
rs1593087549 CA386748180 |
482 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 484 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6793242 rs754265114 |
484 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1381482087 CA386748197 |
485 | Y>H | No |
ClinGen TOPMed |
|
|
CA386748215 rs1223518213 |
487 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6793243 rs371493214 |
488 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386748227 rs1218041804 |
489 | G>R | No |
ClinGen gnomAD |
|
|
rs1489865347 CA386748242 |
491 | G>C | No |
ClinGen gnomAD |
|
|
CA386748249 rs747227657 |
492 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747227657 CA6793248 |
492 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199724286 CA6793247 |
492 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386748255 rs1593087608 |
493 | E>G | No |
ClinGen Ensembl |
|
|
rs769724893 CA6793252 VAR_011302 |
496 | E>K | allele ALDH2*3 [UniProt] | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs201939387 CA6793253 |
497 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1383343366 CA386748283 |
497 | Y>C | No |
ClinGen gnomAD |
|
|
CA386748285 rs1303244809 |
498 | G>R | No |
ClinGen gnomAD |
|
|
CA386748292 rs1381088341 |
499 | L>V | No |
ClinGen TOPMed |
|
|
CA386748322 rs1439660882 |
503 | T>N | No |
ClinGen gnomAD |
|
|
rs767280255 CA6793257 |
506 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386748944 rs1593091153 |
508 | V>G | No |
ClinGen Ensembl |
|
|
CA243666759 rs1042825766 |
508 | V>L | No |
ClinGen TOPMed |
|
|
rs904273975 CA243666761 |
509 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386748955 rs904273975 |
509 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1423818425 CA386749003 |
513 | P>L | No |
ClinGen gnomAD |
1 associated diseases with P05091
[MIM: 619151]: AMED syndrome, digenic (AMEDS)
A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. AMEDS is an autosomal recessive, digenic form characterized by childhood onset of bone marrow failure resulting in aplastic anemia, in association with global developmental delay, intellectual disability, and poor overall growth with short stature. {ECO:0000269|PubMed:33355142}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. AMEDS patients carry ADH5 biallelic variants and homozygous or heterozygous ALDH2 variant p.Glu504Lys, affecting protein activity. Cellular and animal studies demonstrate that the simultaneous loss of ALDH2 and ADH5 activities leads to an increase of cellular formaldehyde sensitivity and multisystem abnormalities including hematopoietic failure. {ECO:0000269|PubMed:33355142}.
Without disease ID
- A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. AMEDS is an autosomal recessive, digenic form characterized by childhood onset of bone marrow failure resulting in aplastic anemia, in association with global developmental delay, intellectual disability, and poor overall growth with short stature. {ECO:0000269|PubMed:33355142}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. AMEDS patients carry ADH5 biallelic variants and homozygous or heterozygous ALDH2 variant p.Glu504Lys, affecting protein activity. Cellular and animal studies demonstrate that the simultaneous loss of ALDH2 and ADH5 activities leads to an increase of cellular formaldehyde sensitivity and multisystem abnormalities including hematopoietic failure. {ECO:0000269|PubMed:33355142}.
Functions
| Description | ||
|---|---|---|
| EC Number | 1.2.1.3 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| aldehyde dehydrogenase (NAD+) activity | Catalysis of the reaction: an aldehyde + NAD+ + H2O = an acid + NADH + H+. |
| aldehyde dehydrogenase [NAD(P)+] activity | Catalysis of the reaction: an aldehyde + NAD(P)+ + H2O = an acid + NAD(P)H + H+. |
| carboxylic ester hydrolase activity | Catalysis of the hydrolysis of a carboxylic ester bond. |
| electron transfer activity | Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient. |
| glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity | Catalysis of the reaction: D-glyceraldehyde 3-phosphate + NAD+ + H2O = 3-phospho-D-glycerate + NADH + H+. |
| NAD binding | Binding to nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NAD+, or the reduced form, NADH. |
| nitroglycerin reductase activity | Catalysis of the removal of one or more nitrite (NO2-) groups from nitroglycerin or a derivative. |
| phenylacetaldehyde dehydrogenase activity | Catalysis of the reaction: phenylacetaldehyde + NAD+ + H2O = phenylacetate + NADH + H+. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| alcohol metabolic process | The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. |
| aldehyde catabolic process | The chemical reactions and pathways resulting in the breakdown of aldehydes, any organic compound with the formula R-CH=O. |
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| ethanol catabolic process | The chemical reactions and pathways resulting in the breakdown of ethanol, CH3-CH2-OH, a colorless, water-miscible, flammable liquid produced by alcoholic fermentation. |
| regulation of dopamine biosynthetic process | Any process that modulates the frequency, rate or extent of dopamine biosynthetic process. |
| regulation of serotonin biosynthetic process | Any process that modulates the frequency, rate or extent of serotonin biosynthetic process. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0P5F9 | ALDH8A1 | 2-aminomuconic semialdehyde dehydrogenase | Bos taurus (Bovine) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRAAARFGP | RLGRRLLSAA | ATQAVPAPNQ | QPEVFCNQIF | INNEWHDAVS | RKTFPTVNPS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TGEVICQVAE | GDKEDVDKAV | KAARAAFQLG | SPWRRMDASH | RGRLLNRLAD | LIERDRTYLA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALETLDNGKP | YVISYLVDLD | MVLKCLRYYA | GWADKYHGKT | IPIDGDFFSY | TRHEPVGVCG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QIIPWNFPLL | MQAWKLGPAL | ATGNVVVMKV | AEQTPLTALY | VANLIKEAGF | PPGVVNIVPG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FGPTAGAAIA | SHEDVDKVAF | TGSTEIGRVI | QVAAGSSNLK | RVTLELGGKS | PNIIMSDADM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DWAVEQAHFA | LFFNQGQCCC | AGSRTFVQED | IYDEFVERSV | ARAKSRVVGN | PFDSKTEQGP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QVDETQFKKI | LGYINTGKQE | GAKLLCGGGI | AADRGYFIQP | TVFGDVQDGM | TIAKEEIFGP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VMQILKFKTI | EEVVGRANNS | TYGLAAAVFT | KDLDKANYLS | QALQAGTVWV | NCYDVFGAQS |
| 490 | 500 | 510 | |||
| PFGGYKMSGS | GRELGEYGLQ | AYTEVKTVTV | KVPQKNS |