P14920
PR
Gene name |
DAO (DAMOX) |
Protein name |
D-amino-acid oxidase |
Names |
DAAO, DAMOX, DAO |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1610 |
EC number |
1.4.3.3: With oxygen 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
23 structures for P14920
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DU8 | X-ray | 250 A | A/B/G/J | 1-347 | PDB |
| 2E48 | X-ray | 290 A | A/B/C/D | 1-347 | PDB |
| 2E49 | X-ray | 320 A | A/B/C/D | 1-347 | PDB |
| 2E4A | X-ray | 260 A | A/B/C/D | 1-347 | PDB |
| 2E82 | X-ray | 270 A | A/B/C/D | 1-347 | PDB |
| 3CUK | X-ray | 249 A | A/B/C/D | 1-347 | PDB |
| 3G3E | X-ray | 220 A | A/B/C/D | 1-347 | PDB |
| 3W4I | X-ray | 250 A | A/B/C/D | 1-347 | PDB |
| 3W4J | X-ray | 274 A | A/B/C/D | 1-347 | PDB |
| 3W4K | X-ray | 286 A | A/B/C/D | 1-347 | PDB |
| 3ZNN | X-ray | 190 A | A/B | 1-347 | PDB |
| 3ZNO | X-ray | 230 A | A/B | 1-347 | PDB |
| 3ZNP | X-ray | 240 A | A/B | 1-347 | PDB |
| 3ZNQ | X-ray | 275 A | A/B | 1-347 | PDB |
| 4QFC | X-ray | 240 A | A/B | 1-347 | PDB |
| 4QFD | X-ray | 285 A | A/B | 1-347 | PDB |
| 5ZJ9 | X-ray | 260 A | A/B/C/D | 1-340 | PDB |
| 5ZJA | X-ray | 260 A | A/B/C/D | 1-340 | PDB |
| 6KBP | X-ray | 225 A | A/B/C/D | 1-338 | PDB |
| 7U9S | X-ray | 210 A | A/B | 1-347 | PDB |
| 7U9U | X-ray | 166 A | A/B | 1-347 | PDB |
| 8HY5 | X-ray | 210 A | A/B | 1-347 | PDB |
| AF-P14920-F1 | Predicted | AlphaFoldDB |
314 variants for P14920
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001095492 rs778735604 CA6770944 |
16 | A>T | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001095493 CA6771005 rs138277420 |
71 | T>I | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001260559 rs781658657 CA6771016 |
84 | A>T | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001095495 rs2039610204 |
321 | G>E | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773765064 CA6770933 |
2 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs142698254 COSM3398311 CA6770934 |
2 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142698254 CA6770935 |
2 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773765064 CA386445675 |
2 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386445680 rs1217061377 |
3 | V>L | No |
ClinGen gnomAD |
|
|
rs1593157996 CA386445694 |
5 | V>G | No |
ClinGen Ensembl |
|
|
rs774900182 CA6770936 |
6 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766993888 CA6770937 |
7 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA386445711 rs1200241605 |
8 | A>V | No |
ClinGen gnomAD |
|
|
rs373913310 COSM1358563 CA386445732 CA6770940 |
12 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6770941 rs373913310 |
12 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6770942 rs753801057 |
15 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386445747 rs753801057 |
15 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778735604 CA386445753 |
16 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373285389 CA386445754 |
16 | A>V | No |
ClinGen gnomAD |
|
|
rs1465408785 CA386445759 |
17 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6770945 rs745615849 |
19 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376978753 CA386445781 |
20 | H>R | No |
ClinGen gnomAD |
|
|
rs1344838400 CA386445790 |
21 | E>D | No |
ClinGen Ensembl |
|
|
rs758203634 CA6770946 |
21 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA243335976 rs992050044 |
22 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6770947 rs200257378 COSM1358564 |
22 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1419986935 CA386445808 |
24 | H>R | No |
ClinGen TOPMed |
|
|
CA6770948 rs145042431 |
25 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773218020 CA6770950 |
28 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1232720280 CA386445844 |
30 | L>P | No |
ClinGen gnomAD |
|
|
rs1254658020 CA386445846 |
31 | D>N | No |
ClinGen gnomAD |
|
|
CA386445871 rs1350437671 |
34 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs771304641 CA6770953 |
34 | V>F | No |
ClinGen ExAC |
|
|
rs551786568 COSM1202985 CA6770955 |
36 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6770956 rs115153469 |
36 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6770958 rs150448350 |
38 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368093324 CA6770959 |
38 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6770960 rs753327533 |
39 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6770962 rs765029657 |
40 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386445906 rs1593158129 |
40 | T>P | No |
ClinGen Ensembl |
|
|
rs1158018149 CA386445910 |
41 | P>T | No |
ClinGen gnomAD |
|
|
CA386445918 rs1593158145 |
42 | L>F | No |
ClinGen Ensembl |
|
|
rs750366359 CA6770963 |
43 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758185258 CA6770964 |
44 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386445927 rs1593158154 |
44 | T>P | No |
ClinGen Ensembl |
|
|
CA243336066 rs1039820666 |
45 | T>A | No |
ClinGen Ensembl |
|
|
CA386445933 rs1039820666 |
45 | T>P | No |
ClinGen Ensembl |
|
|
COSM167873 CA6770967 rs375063129 |
46 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1566034798 CA386445947 |
47 | V>A | No |
ClinGen Ensembl |
|
|
rs778091384 CA6770968 |
47 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749280997 CA6770970 |
49 | A>G | No |
ClinGen ExAC |
|
|
CA6770973 rs774929059 COSM1243195 |
50 | G>S | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs1332419831 CA386445977 |
52 | W>* | No |
ClinGen gnomAD |
|
|
rs746440371 CA6770974 |
52 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA6770976 rs370070192 |
54 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113576450 CA6770975 |
54 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386445995 rs1593158223 |
55 | Y>S | No |
ClinGen Ensembl |
|
|
CA6770977 rs760343510 |
56 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386446010 rs1477157353 |
57 | S>F | No |
ClinGen TOPMed |
|
|
CA386446016 rs1207752179 |
58 | D>V | No |
ClinGen gnomAD |
|
|
rs535612125 CA6770978 |
59 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6770979 rs776360979 |
60 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1177765990 CA386446035 |
61 | N>S | No |
ClinGen gnomAD |
|
|
CA6770980 rs761163689 |
62 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201040426 CA6770981 |
63 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750347943 CA6770982 |
65 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772752305 CA6771002 |
66 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386446407 rs1334863625 |
67 | W>* | No |
ClinGen gnomAD |
|
|
rs762485600 CA6771004 |
67 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs762485600 CA6771003 |
67 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA386446414 rs1270406107 |
68 | S>N | No |
ClinGen gnomAD |
|
|
rs138277420 CA6771006 |
71 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs548617373 CA6771008 |
74 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757598853 CA6771009 |
75 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386446471 rs1593159608 |
76 | L>P | No |
ClinGen Ensembl |
|
|
rs1259728477 CA386446478 |
77 | S>R | No |
ClinGen gnomAD |
|
|
CA6771010 rs374188691 |
78 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758571359 COSM3670950 CA386446493 |
80 | H>N | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs780359556 CA386446498 |
80 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386446496 rs1412056691 |
80 | H>R | No |
ClinGen gnomAD |
|
|
rs758571359 CA6771012 |
80 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771015 rs149638037 |
83 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386446519 rs781658657 |
84 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593159643 CA386446535 |
86 | N>T | No |
ClinGen Ensembl |
|
|
rs200866982 CA243338159 |
87 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA386446544 rs1398841238 |
88 | G>S | No |
ClinGen gnomAD |
|
|
rs146917361 CA386446555 |
90 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146917361 CA6771019 |
90 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6771020 rs377513138 |
93 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373865790 CA386446584 |
94 | G>D | No |
ClinGen TOPMed |
|
|
CA386446580 rs1465674883 |
94 | G>S | No |
ClinGen TOPMed |
|
|
rs774148795 CA6771023 |
97 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA386446607 rs1280920238 |
98 | F>L | No |
ClinGen gnomAD |
|
|
rs760577275 CA6771027 |
101 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1180947456 CA386446638 |
102 | I>S | No |
ClinGen TOPMed |
|
|
CA6771028 rs200127576 RCV000882175 |
103 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1251722151 CA386446642 |
103 | P>T | No |
ClinGen gnomAD |
|
|
CA386447326 rs1322557628 |
105 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs532474005 CA6771047 |
105 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386447327 rs1322557628 |
105 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386447325 rs1322557628 |
105 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766339475 CA6771048 |
106 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs755040148 CA6771050 |
110 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6771053 rs370409180 |
113 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6771056 rs756971224 |
115 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201583577 CA6771055 |
115 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386447585 rs1463946179 |
116 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386447644 rs1339389202 |
118 | T>I | No |
ClinGen TOPMed |
|
|
CA6771060 rs780068280 |
119 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 120 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235087373 CA386447759 |
124 | M>I | No |
ClinGen gnomAD |
|
|
CA386447839 rs1162131595 |
127 | D>V | No |
ClinGen gnomAD |
|
| rs747002323 | 128 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414942403 CA386447859 |
128 | Y>N | No |
ClinGen gnomAD |
|
|
rs768551628 CA6771063 COSM1510772 |
129 | G>C | lung Variant assessed as Somatic; 0.0 impact. liver [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6771064 rs370652823 |
129 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6771062 rs768551628 |
129 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768676371 CA6771080 |
131 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6771081 rs781303397 |
133 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs747922045 CA6771082 |
135 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1294205667 CA386448172 |
136 | S>R | No |
ClinGen gnomAD |
|
|
rs1262790601 CA386448183 |
137 | L>P | No |
ClinGen gnomAD |
|
|
rs74888570 CA243341005 |
140 | E>G | No |
ClinGen Ensembl |
|
|
rs1593161520 CA386448251 |
142 | K>E | No |
ClinGen Ensembl |
|
|
CA243341062 rs981813828 |
142 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA243341066 rs982634992 |
144 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6771085 rs35388422 RCV000909570 |
144 | Y>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs772165541 CA6771086 |
145 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6771087 rs149793185 |
146 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374340431 CA386448338 |
147 | W>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA243341085 rs374340431 |
147 | W>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA243341083 CA386448333 rs111727010 |
147 | W>R | No |
ClinGen TOPMed |
|
|
rs1260366268 CA386448355 |
148 | L>Q | No |
ClinGen gnomAD |
|
|
rs1260366268 CA386448359 |
148 | L>R | No |
ClinGen gnomAD |
|
|
rs1593161579 CA386448366 |
149 | T>A | No |
ClinGen Ensembl |
|
|
CA386448386 rs1390099291 |
150 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA243344317 rs769910468 |
151 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 152 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372318260 CA243344327 |
155 | R>K | No |
ClinGen ESP |
|
|
rs952757280 CA243344340 |
158 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA386450014 rs1396597961 |
160 | F>L | No |
ClinGen gnomAD |
|
|
CA386450060 rs775708778 |
162 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1358567 CA6771106 rs775565169 |
162 | R>Q | large_intestine Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA243344361 rs775708778 |
162 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771107 rs768725774 |
164 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451688633 CA386450092 RCV001095494 |
164 | V>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1451688633 CA386450087 |
164 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6771109 rs762283808 |
165 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386450132 rs1566037891 |
166 | S>F | No |
ClinGen Ensembl |
|
|
rs948201301 CA243344405 |
168 | E>D | No |
ClinGen Ensembl |
|
|
CA6771111 rs377144646 |
168 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373599296 CA386450183 |
169 | E>K | No |
ClinGen gnomAD |
|
| rs1566037899 | 169 | E>L | No | Ensembl | |
|
rs752105034 CA6771136 |
173 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771138 rs763876748 |
175 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924312907 CA243345314 |
176 | D>G | No |
ClinGen TOPMed |
|
|
rs373110648 CA6771140 |
177 | V>M | Variant assessed as Somatic; 9.352e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751758143 CA6771142 |
180 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs376326395 CA6771143 |
180 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781499915 CA6771144 |
181 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA386450348 rs1196057771 |
182 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1423080309 CA386450380 |
184 | V>L | No |
ClinGen gnomAD |
|
|
CA386450427 rs1213581259 |
186 | A>G | No |
ClinGen gnomAD |
|
|
rs778140294 CA6771147 |
188 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6771148 rs749872143 |
188 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM430279 CA6771151 rs760006596 |
191 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs150760302 CA6771152 |
191 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386450510 rs1593164487 |
192 | D>A | No |
ClinGen Ensembl |
|
|
CA386450514 rs1394987563 |
192 | D>E | No |
ClinGen gnomAD |
|
|
rs1259635535 CA386450524 |
193 | P>H | No |
ClinGen gnomAD |
|
|
rs1402500763 CA386450555 |
195 | L>R | No |
ClinGen Ensembl |
|
|
CA386450584 rs1291734583 |
197 | P>A | No |
ClinGen gnomAD |
|
|
CA243345369 rs1045217537 |
197 | P>L | No |
ClinGen TOPMed |
|
|
rs139166976 CA6771155 |
199 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200850756 CA6771156 |
199 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM167797 rs139166976 CA6771154 |
199 | R>W | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6771157 rs761787902 |
200 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771159 rs750170054 |
202 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1628357 CA6771161 rs781206127 |
203 | M>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs758205328 CA6771160 |
203 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763919956 COSM934655 CA243347668 |
207 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA386451528 rs1324041848 |
207 | A>V | No |
ClinGen TOPMed |
|
|
CA386451536 rs762653262 |
208 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6771178 rs762653262 |
208 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA386451534 rs1177826531 |
208 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6771179 rs766258671 |
209 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs111347906 CA243347685 COSM4166031 |
209 | W>R | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6771180 rs752844940 |
210 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA386451585 rs1226208396 |
211 | K>M | No |
ClinGen TOPMed |
|
|
rs1457470237 CA386451578 |
211 | K>Q | No |
ClinGen gnomAD |
|
|
CA386451635 rs1352015862 |
214 | I>T | No |
ClinGen TOPMed |
|
|
rs369202408 CA243347698 |
215 | L>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs756404040 COSM1677323 CA386451664 |
216 | T>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756404040 CA6771181 |
216 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1462805182 CA386451669 |
217 | H>Y | No |
ClinGen gnomAD |
|
|
CA386451694 rs1324198769 |
218 | D>E | No |
ClinGen gnomAD |
|
|
CA386451702 rs1471712393 |
219 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 219 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386451704 rs1471712393 |
219 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1181739408 CA386451715 |
220 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386451773 rs1439853758 |
224 | Y>H | No |
ClinGen gnomAD |
|
|
CA6771182 rs200391092 |
225 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6771183 rs753916764 |
225 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1045813791 CA243347733 |
227 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6771185 rs779493322 |
229 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386451855 rs1290966346 |
230 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746442296 CA6771186 |
232 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 232 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748784185 CA6771215 |
234 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6771216 rs531892910 |
235 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386452864 rs531892910 |
235 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386452908 rs1312377176 |
237 | T>I | No |
ClinGen gnomAD |
|
|
rs774165217 CA6771217 |
238 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 240 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462478853 CA386452985 |
241 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386453073 rs1225691614 |
246 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 248 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372491575 CA6771221 |
248 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555246643 CA386453126 |
248 | S>R | No |
ClinGen Ensembl |
|
|
rs762173925 CA6771223 |
249 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6771225 rs750476368 |
251 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA386453204 rs1200738602 |
252 | N>S | No |
ClinGen gnomAD |
|
|
rs762956163 CA386453262 |
255 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs762956163 CA6771226 |
255 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6771227 rs766843389 |
257 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA243349200 rs111625903 |
259 | I>T | No |
ClinGen Ensembl |
|
|
rs866993420 CA243349201 |
260 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA243349219 rs200651853 |
262 | G>D | No |
ClinGen Ensembl |
|
|
rs61935490 CA243349229 |
263 | C>* | No |
ClinGen TOPMed |
|
|
rs61935490 CA243349236 |
263 | C>W | No |
ClinGen TOPMed |
|
|
CA6771228 rs752074397 |
264 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202065454 CA6771230 |
268 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994233371 CA243349264 |
269 | T>A | No |
ClinGen Ensembl |
|
|
rs1467636378 CA386453457 |
269 | T>I | No |
ClinGen gnomAD |
|
|
rs756775362 CA6771258 |
273 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA243349851 rs764531224 |
274 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1184697095 CA386453700 |
276 | I>M | No |
ClinGen gnomAD |
|
|
rs778334098 CA6771259 |
276 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745766982 CA6771260 |
279 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA243349864 rs888461072 |
279 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs113854555 CA243349873 |
282 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 282 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6771262 rs143550642 COSM1358568 |
283 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs140015394 COSM2154560 CA243349879 |
283 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA6771263 rs746734558 |
284 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386453810 rs746734558 |
284 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1202986 rs768403852 CA6771264 |
286 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6771265 rs566264618 |
286 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1368694476 CA386453845 |
288 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1226206590 CA386453868 |
289 | I>T | No |
ClinGen gnomAD |
|
|
CA6771267 rs771014745 |
289 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6771270 rs372560295 |
290 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6771269 rs201364697 |
290 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1190591062 CA386453903 |
292 | E>V | No |
ClinGen TOPMed |
|
|
CA6771271 rs775976658 |
293 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771273 rs764420954 |
295 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6771274 rs764420954 |
295 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs756901160 CA6771275 |
296 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6771276 rs764973777 |
297 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760432003 CA6771278 |
297 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760432003 CA6771277 |
297 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416474823 CA386453981 |
298 | T>A | No |
ClinGen gnomAD |
|
|
CA6771279 rs376433124 |
298 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243349978 rs376433124 |
298 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243349981 rs376433124 |
298 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 301 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386454036 rs1388863998 |
302 | N>D | No |
ClinGen gnomAD |
|
|
CA243349991 rs371256077 |
303 | T>R | No |
ClinGen ESP TOPMed |
|
|
rs1429538469 CA386454223 |
305 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs202101905 CA6771298 |
307 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA386454258 rs1367055743 |
308 | N>S | No |
ClinGen gnomAD |
|
|
rs1396768067 CA386454266 |
309 | Y>H | No |
ClinGen TOPMed |
|
|
CA386454318 rs1593169131 |
311 | H>Q | No |
ClinGen Ensembl |
|
|
rs781208737 CA6771300 |
311 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6771301 rs747837081 |
312 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746150850 CA6771304 |
314 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs575170073 CA6771306 |
315 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386454408 rs1266666607 |
317 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386454405 rs1266666607 |
317 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1266666607 CA386454402 |
317 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6771307 rs747146248 |
318 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466510558 CA386454427 |
318 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386454460 rs1252929468 |
319 | H>L | No |
ClinGen gnomAD |
|
|
CA6771308 rs768996759 |
320 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6771309 rs777208721 |
321 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770340579 CA6771311 |
323 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770340579 CA243350779 |
323 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386454579 rs1390637405 |
325 | E>* | No |
ClinGen gnomAD |
|
|
CA243350795 rs200970049 |
328 | K>R | No |
ClinGen gnomAD |
|
|
CA6771313 rs762733390 |
329 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs4262766 CA6771314 |
331 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386454670 rs4262766 |
331 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6771315 rs751062244 |
332 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs563868242 CA386454719 |
335 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6771316 COSM169562 rs759096607 |
335 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386454722 rs1354705295 |
336 | E>K | No |
ClinGen TOPMed |
|
|
CA6771319 rs752743261 |
338 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs777596901 CA6771320 |
339 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA243350861 rs376435571 |
340 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs190601584 CA243350866 |
341 | R>I | No |
ClinGen 1000Genomes |
|
|
CA386454862 rs1246835206 |
342 | M>I | No |
ClinGen gnomAD |
|
|
CA6771321 rs199548432 |
342 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201879447 CA6771322 |
343 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471971251 CA386454874 |
343 | P>S | No |
ClinGen gnomAD |
|
|
rs925424619 CA243350884 |
344 | P>L | No |
ClinGen Ensembl |
|
|
rs143732132 CA6771323 |
345 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386454916 rs1593169312 |
346 | H>P | No |
ClinGen Ensembl |
|
|
rs771193408 CA243350889 |
347 | L>F | No |
ClinGen Ensembl |
1 associated diseases with P14920
[MIM: 181500]: Schizophrenia (SCZD)
A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269|PubMed:12364586}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Without disease ID
- A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269|PubMed:12364586}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 1.4.3.3 | With oxygen as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| peroxisomal matrix | The volume contained within the membranes of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase. |
| peroxisomal membrane | The lipid bilayer surrounding a peroxisome. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| D-amino-acid oxidase activity | Catalysis of the reaction: a D-amino acid + H2O + O2 = a 2-oxo acid + NH3 + hydrogen peroxide. |
| FAD binding | Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes. |
| identical protein binding | Binding to an identical protein or proteins. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| D-alanine catabolic process | The chemical reactions and pathways resulting in the breakdown of D-alanine, the D-enantiomer of the amino acid alanine. |
| D-amino acid catabolic process | The chemical reactions and pathways resulting in the breakdown of D-amino acids, the D-enantiomers of amino acids. |
| D-serine catabolic process | The chemical reactions and pathways resulting in the breakdown of D-serine, the D-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. |
| D-serine metabolic process | The chemical reactions and pathways involving D-serine, the D-enantiomer of serine, i.e. (2R)-2-amino-3-hydroxypropanoic acid. |
| dopamine biosynthetic process | The chemical reactions and pathways resulting in the formation of dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. |
| proline catabolic process | The chemical reactions and pathways resulting in the breakdown of proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRVVVIGAGV | IGLSTALCIH | ERYHSVLQPL | DIKVYADRFT | PLTTTDVAAG | LWQPYLSDPN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NPQEADWSQQ | TFDYLLSHVH | SPNAENLGLF | LISGYNLFHE | AIPDPSWKDT | VLGFRKLTPR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELDMFPDYGY | GWFHTSLILE | GKNYLQWLTE | RLTERGVKFF | QRKVESFEEV | AREGADVIVN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CTGVWAGALQ | RDPLLQPGRG | QIMKVDAPWM | KHFILTHDPE | RGIYNSPYII | PGTQTVTLGG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IFQLGNWSEL | NNIQDHNTIW | EGCCRLEPTL | KNARIIGERT | GFRPVRPQIR | LEREQLRTGP |
| 310 | 320 | 330 | 340 | ||
| SNTEVIHNYG | HGGYGLTIHW | GCALEAAKLF | GRILEEKKLS | RMPPSHL |