P21397
PR
Gene name |
MAOA |
Protein name |
Amine oxidase [flavin-containing] A |
Names |
Monoamine oxidase type A, MAO-A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4128 |
EC number |
1.4.3.4: 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
5 structures for P21397
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2BXR | X-ray | 300 A | A/B | 1-527 | PDB |
| 2BXS | X-ray | 315 A | A/B | 1-527 | PDB |
| 2Z5X | X-ray | 220 A | A | 12-524 | PDB |
| 2Z5Y | X-ray | 217 A | A | 12-524 | PDB |
| AF-P21397-F1 | Predicted | AlphaFoldDB |
229 variants for P21397
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1601921232 RCV000800325 |
1 | M>I | Brunner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA204424 rs796065312 RCV000190424 RCV002293426 |
45 | R>W | Brunner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000513424 rs201519600 RCV000210598 CA358062 |
46 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001281538 rs2033551253 |
78 | L>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10390742 RCV000805433 rs747229681 |
87 | E>G | Brunner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10390763 rs755919316 RCV001255080 |
111 | A>T | Autism [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10390768 RCV000692394 rs771740634 |
134 | M>I | Brunner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555947954 RCV000623413 CA413004989 |
134 | M>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000638566 RCV000504239 rs58524323 CA10390794 RCV002311821 |
172 | R>Q | Inborn genetic diseases Brunner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA413006738 RCV000496099 rs1135401773 |
244 | V>I | Brunner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777420059 CA10390827 RCV002379956 RCV001252572 |
247 | V>I | Intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs796065311 RCV000190423 |
251 | S>missing | Brunner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_071963 RCV000128399 CA163205 rs587777457 |
266 | C>F | Brunner syndrome probable disease-associated variant found in a family with Brunner syndrome-like behavioral disturbances; reduced activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs72554632 CA120852 RCV000010645 |
296 | Q>* | Brunner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000687457 COSM1214348 CA10390851 rs780647851 |
297 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Brunner syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001252573 rs2033892290 |
335 | I>V | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622832 CA10390935 RCV001297722 rs772161607 RCV000339688 |
416 | M>I | Inborn genetic diseases Brunner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs745388539 RCV002316897 CA10390969 |
462 | G>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs367715125 RCV001338208 CA329466946 |
480 | D>E | Brunner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002065694 rs147298607 RCV002390889 CA10391002 |
509 | T>I | Inborn genetic diseases Brunner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002524226 rs1800466 RCV000884297 RCV000502654 CA10391006 VAR_014796 RCV002404312 |
520 | K>R | Inborn genetic diseases Brunner syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs775694295 CA10390707 |
5 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413004090 rs775694295 |
5 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10390708 rs760422737 |
8 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1439692807 CA413004123 |
9 | I>M | No |
ClinGen gnomAD |
|
|
CA329460751 rs957678830 |
9 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA413004126 rs1232710646 |
10 | A>T | No |
ClinGen gnomAD |
|
| VAR_036545 | 15 | D>E | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs1268810174 CA413004161 |
15 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 32 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000493079 rs1131691720 CA413004284 |
32 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10390721 rs779299641 |
37 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413004324 rs1270029287 |
38 | S>N | No |
ClinGen gnomAD |
|
|
CA413004336 rs1230848293 |
40 | L>V | No |
ClinGen TOPMed |
|
|
rs745892947 CA10390722 |
45 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162350391 CA413004434 |
55 | I>T | No |
ClinGen gnomAD |
|
|
CA10390724 rs747281025 |
55 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA329463348 rs572229710 |
58 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10390734 rs759325782 |
58 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10390735 rs764538239 |
61 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs754172029 CA10390736 |
63 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 64 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750916164 CA10390739 |
79 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs750916164 CA10390740 |
79 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1290392482 CA413004607 |
79 | R>H | No |
ClinGen gnomAD |
|
|
rs1468915822 CA413004636 |
83 | E>D | No |
ClinGen TOPMed |
|
|
rs780148935 CA10390741 |
86 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10390743 rs768926368 |
88 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA413004664 rs768926368 |
88 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA329463350 rs913828202 |
89 | Y>* | No |
ClinGen TOPMed |
|
|
rs1348356432 CA413004697 |
93 | V>I | No |
ClinGen TOPMed |
|
|
CA413004719 rs1316821465 |
96 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs769511910 CA10390746 |
96 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413004728 rs1465678248 |
98 | V>I | No |
ClinGen gnomAD |
|
|
rs1202580246 CA413004742 |
100 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA413004792 rs1309805299 |
105 | T>A | No |
ClinGen gnomAD |
|
|
CA10390758 rs368236433 |
106 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413004807 rs1225186530 |
107 | P>R | No |
ClinGen TOPMed |
|
|
CA10390760 rs755060381 |
107 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA329464610 rs1039995231 |
109 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM162350 CA10390761 rs140295792 |
109 | R>W | Variant assessed as Somatic; 0.0 impact. NS endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1231017846 CA413004851 |
115 | V>I | No |
ClinGen gnomAD |
|
|
rs1231017846 CA413004852 |
115 | V>L | No |
ClinGen gnomAD |
|
|
rs1275754919 CA413004859 |
116 | W>R | No |
ClinGen gnomAD |
|
|
rs752534084 CA10390764 |
117 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 119 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252486956 CA413004880 |
119 | I>V | No |
ClinGen gnomAD |
|
|
rs201799429 CA10390766 |
125 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745323664 CA10390767 |
129 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA413004952 rs1800464 |
129 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1569197329 CA413004965 |
131 | I>V | No |
ClinGen Ensembl |
|
|
CA413004986 rs1601940872 |
133 | N>K | No |
ClinGen Ensembl |
|
|
rs1157474072 CA413005030 |
138 | I>F | No |
ClinGen TOPMed |
|
|
rs1450929926 CA413005039 |
139 | P>Q | No |
ClinGen TOPMed |
|
|
rs1478242172 CA413005045 |
140 | T>N | No |
ClinGen gnomAD |
|
|
CA329464658 rs373044189 |
141 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs1555948045 CA413005057 RCV000521981 |
142 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1480339254 CA413005078 |
145 | E>Q | No |
ClinGen TOPMed |
|
|
CA10390782 rs199524208 |
146 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1201721199 CA413005102 |
148 | H>L | No |
ClinGen TOPMed |
|
| TCGA novel | 148 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757141278 CA10390783 |
151 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413005123 rs757141278 |
151 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914043107 CA329464659 |
157 | M>I | No |
ClinGen Ensembl |
|
|
CA413005182 rs1261565085 |
159 | E>K | No |
ClinGen TOPMed |
|
|
CA413005201 rs1424585006 |
161 | I>M | No |
ClinGen gnomAD |
|
|
rs574432879 CA10390784 |
161 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413005202 rs1301903802 |
162 | D>H | No |
ClinGen gnomAD |
|
|
rs745842135 CA413005219 |
164 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413005221 rs1269044075 |
164 | I>T | No |
ClinGen TOPMed |
|
|
rs745842135 CA10390785 |
164 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413005240 rs1223099956 |
166 | W>C | No |
ClinGen TOPMed |
|
|
rs1390855194 CA413005802 |
172 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs77698881 VAR_064573 COSM1682566 CA10390799 |
188 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
CA10390800 rs142659522 |
189 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1320825044 CA413006031 |
191 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569200316 CA413006038 |
192 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 194 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413006070 rs1601946401 |
195 | L>W | No |
ClinGen Ensembl |
|
|
rs1218703391 CA413006241 |
206 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 209 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758333217 CA10390803 |
211 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA329465865 rs897212168 |
212 | N>D | No |
ClinGen TOPMed |
|
|
rs780043965 CA10390804 |
212 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318567620 CA413006357 |
213 | G>D | No |
ClinGen gnomAD |
|
|
CA10390818 rs765118799 |
217 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762184021 CA10390817 |
217 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1280809917 CA413006581 |
220 | V>I | No |
ClinGen gnomAD |
|
|
CA10390819 rs750174700 |
221 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA413006588 rs1601947373 |
221 | G>R | No |
ClinGen Ensembl |
|
|
rs1181634890 CA413006613 |
225 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201785423 CA329466080 |
228 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10390822 rs751543666 |
229 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329466081 rs779805250 |
229 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754411793 CA10390823 |
230 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs780726107 CA10390824 |
232 | D>V | No |
ClinGen ExAC |
|
|
CA413006677 rs368201051 |
235 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10390826 rs368201051 |
235 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 235 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 237 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413006734 rs1216988286 |
243 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA413006799 rs1338890403 |
252 | D>E | No |
ClinGen TOPMed |
|
|
COSM457519 CA10390829 rs772520550 |
254 | I>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 258 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10390831 rs377554403 |
263 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 267 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329466102 rs150176511 |
269 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150176511 CA10390844 |
269 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452282305 CA413007499 |
272 | A>V | No |
ClinGen gnomAD |
|
|
CA413007536 rs1601947551 |
274 | P>L | No |
ClinGen Ensembl |
|
|
CA10390846 rs749012045 |
275 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10390847 rs780527254 |
277 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1367654709 CA413007582 |
278 | T>A | No |
ClinGen TOPMed |
|
|
rs747465837 CA10390848 |
279 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs769218254 CA10390849 |
284 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA413007874 rs1469534616 |
292 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 298 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329466103 rs61730725 |
298 | L>P | No |
ClinGen Ensembl |
|
|
CA329466104 rs867883669 |
299 | P>S | No |
ClinGen Ensembl |
|
|
CA413008152 rs1385505155 |
304 | I>V | No |
ClinGen TOPMed |
|
|
rs1211976798 CA413008236 |
308 | M>I | No |
ClinGen gnomAD |
|
|
CA10390852 rs144688481 |
311 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA329466105 rs866082662 |
311 | K>R | No |
ClinGen Ensembl |
|
|
rs1799835 VAR_014795 CA329466106 |
314 | F>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA10390871 rs773395126 |
323 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1182419642 CA413008640 |
326 | I>T | No |
ClinGen gnomAD |
|
|
COSM131419 rs1601947919 CA413008646 |
327 | E>A | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 330 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413008678 rs1240771735 |
331 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413008753 rs1165469426 |
341 | K>R | No |
ClinGen gnomAD |
|
|
rs1451367524 CA413008774 |
342 | P>Q | No |
ClinGen gnomAD |
|
|
CA329466176 rs868645357 |
344 | G>R | No |
ClinGen Ensembl |
|
|
rs779234131 CA10390884 |
356 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA413009337 rs1182312989 |
356 | R>W | No |
ClinGen gnomAD |
|
|
rs1417037202 CA413009345 |
357 | K>Q | No |
ClinGen gnomAD |
|
|
CA209853 RCV000195192 rs755359800 |
360 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10390885 rs781722252 |
361 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753238893 CA10390886 |
365 | H>N | No |
ClinGen ExAC |
|
|
CA10390887 rs756748906 |
365 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329466723 rs868318350 |
376 | L>I | No |
ClinGen Ensembl |
|
|
CA413009528 rs1428368525 |
378 | A>T | No |
ClinGen gnomAD |
|
|
rs756461907 CA10390913 |
379 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10390914 rs778306070 |
385 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 387 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10390931 rs762553962 |
391 | H>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413009751 rs1226593127 |
407 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001171566 rs2033963994 |
413 | P>S | No |
ClinVar dbSNP |
|
|
CA10390934 rs371491680 |
415 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA413009807 rs1601950759 |
416 | M>V | No |
ClinGen Ensembl |
|
|
rs1434727379 CA413009820 |
417 | T>I | No |
ClinGen TOPMed |
|
|
CA413009825 rs1463566783 |
418 | Q>R | No |
ClinGen gnomAD |
|
|
rs1382723471 CA413010176 |
421 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 423 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413010218 rs1441933667 |
427 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1208584498 CA413010227 |
428 | G>D | No |
ClinGen gnomAD |
|
|
rs1181885385 CA413010260 |
433 | A>T | No |
ClinGen gnomAD |
|
|
rs770610370 CA10390949 |
433 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs999599093 CA329466923 |
439 | T>A | No |
ClinGen Ensembl |
|
|
CA10390952 rs764516141 |
439 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA329466924 rs759809852 |
440 | K>E | No |
ClinGen Ensembl |
|
|
CA329466925 rs1803986 |
445 | M>I | No |
ClinGen Ensembl |
|
|
rs1359637885 CA413010355 |
447 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 448 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 458 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 459 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413010462 rs1601951478 |
461 | N>S | No |
ClinGen Ensembl |
|
|
CA10390971 rs775232342 |
464 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 466 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753406645 COSM1121506 CA10390974 |
468 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs766439090 CA10390975 |
471 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs759671679 CA10390977 |
472 | W>L | No |
ClinGen ExAC |
|
|
rs765021585 CA10390976 |
472 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA413010542 rs1157199441 |
473 | V>A | No |
ClinGen TOPMed |
|
|
CA413010538 rs1430932615 |
473 | V>I | No |
ClinGen gnomAD |
|
|
CA413010549 rs1471386725 |
474 | Q>R | No |
ClinGen TOPMed |
|
| rs367715125 | 480 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs183147374 CA10390994 |
481 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10390995 rs767687635 |
482 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10390997 rs752853420 |
483 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555951370 CA645372684 RCV000499855 |
483 | A>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1249413710 CA413010838 |
483 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752853420 CA10390996 |
483 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10390999 rs753629179 |
489 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10391000 rs757142968 |
498 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1028101657 RCV000500894 CA329466948 |
500 | G>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs745455309 CA10391001 |
505 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329466949 rs779672283 |
513 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA329466950 rs779672283 |
513 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10391004 rs779672283 |
513 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 515 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413011273 rs1284857550 |
515 | G>V | No |
ClinGen TOPMed |
|
|
rs1247405346 CA413011274 |
516 | F>L | No |
ClinGen gnomAD |
|
|
CA329466951 rs140960519 |
517 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA10391007 rs780832453 |
521 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs976594274 CA329466952 |
522 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs749603750 CA10391008 |
522 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 524 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413011336 rs1485916714 |
525 | P>L | No |
ClinGen gnomAD |
|
|
rs1425528483 CA413011339 |
526 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1254032613 CA413011338 |
526 | R>W | No |
ClinGen TOPMed gnomAD |
1 associated diseases with P21397
[MIM: 300615]: Brunner syndrome (BRNRS)
A form of X-linked non-dysmorphic mild intellectual disability. Male patients are affected by borderline intellectual deficit and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior. {ECO:0000269|PubMed:8211186}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of X-linked non-dysmorphic mild intellectual disability. Male patients are affected by borderline intellectual deficit and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior. {ECO:0000269|PubMed:8211186}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P21397
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Amine oxidase | 23 - 460 | IPR002937 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.4.3.4 | With oxygen as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| aliphatic amine oxidase activity | Catalysis of the reaction: an aliphatic amine + H2O + O2 = an aldehyde + NH3 + hydrogen peroxide + H+. |
| flavin adenine dinucleotide binding | Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2. |
| monoamine oxidase activity | Catalysis of the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2. |
| phenethylamine:oxygen oxidoreductase (deaminating) activity | Catalysis of the reaction: phenylethylamine + O2 + H2O = phenylacetaldehyde + NH3 + hydrogen peroxide + H+. |
| primary amine oxidase activity | Catalysis of the reaction: a primary amine + H2O + O2 = an aldehyde + NH3 + hydrogen peroxide. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular biogenic amine metabolic process | The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. |
| dopamine catabolic process | The chemical reactions and pathways resulting in the breakdown of dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. |
| neurotransmitter catabolic process | The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. |
| positive regulation of signal transduction | Any process that activates or increases the frequency, rate or extent of signal transduction. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P56560 | MAOB | Amine oxidase [flavin-containing] B | Bos taurus (Bovine) | PR |
| P21398 | MAOA | Amine oxidase [flavin-containing] A | Bos taurus (Bovine) | PR |
| P58027 | MAOA | Amine oxidase [flavin-containing] A | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| Q5NU32 | MAOA | Amine oxidase [flavin-containing] A | Equus caballus (Horse) | PR |
| Q8NB78 | KDM1B | Lysine-specific histone demethylase 2 | Homo sapiens (Human) | PR |
| O60341 | KDM1A | Lysine-specific histone demethylase 1A | Homo sapiens (Human) | PR |
| P27338 | MAOB | Amine oxidase [flavin-containing] B | Homo sapiens (Human) | PR |
| Q6ZQ88 | Kdm1a | Lysine-specific histone demethylase 1A | Mus musculus (Mouse) | PR |
| Q64133 | Maoa | Amine oxidase [flavin-containing] A | Mus musculus (Mouse) | PR |
| Q6Q2J0 | MAOA | Amine oxidase [flavin-containing] A | Sus scrofa (Pig) | PR |
| P19643 | Maob | Amine oxidase [flavin-containing] B | Rattus norvegicus (Rat) | PR |
| P21396 | Maoa | Amine oxidase [flavin-containing] A | Rattus norvegicus (Rat) | PR |
| P28554 | PDS | 15-cis-phytoene desaturase, chloroplastic/chromoplastic | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | PR |
| Q6NSN2 | mao | Amine oxidase [flavin-containing] | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MENQEKASIA | GHMFDVVVIG | GGISGLSAAK | LLTEYGVSVL | VLEARDRVGG | RTYTIRNEHV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DYVDVGGAYV | GPTQNRILRL | SKELGIETYK | VNVSERLVQY | VKGKTYPFRG | AFPPVWNPIA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YLDYNNLWRT | IDNMGKEIPT | DAPWEAQHAD | KWDKMTMKEL | IDKICWTKTA | RRFAYLFVNI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NVTSEPHEVS | ALWFLWYVKQ | CGGTTRIFSV | TNGGQERKFV | GGSGQVSERI | MDLLGDQVKL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NHPVTHVDQS | SDNIIIETLN | HEHYECKYVI | NAIPPTLTAK | IHFRPELPAE | RNQLIQRLPM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GAVIKCMMYY | KEAFWKKKDY | CGCMIIEDED | APISITLDDT | KPDGSLPAIM | GFILARKADR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAKLHKEIRK | KKICELYAKV | LGSQEALHPV | HYEEKNWCEE | QYSGGCYTAY | FPPGIMTQYG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RVIRQPVGRI | FFAGTETATK | WSGYMEGAVE | AGERAAREVL | NGLGKVTEKD | IWVQEPESKD |
| 490 | 500 | 510 | 520 | ||
| VPAVEITHTF | WERNLPSVSG | LLKIIGFSTS | VTALGFVLYK | YKLLPRS |