O76074
EV
Gene name |
PDE5A (PDE5) |
Protein name |
cGMP-specific 3',5'-cyclic phosphodiesterase |
Names |
cGMP-binding cGMP-specific phosphodiesterase, CGB-PDE |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8654 |
EC number |
3.1.4.35: Phosphoric diester hydrolases |
Protein Class |
CYCLIC NUCLEOTIDE PHOSPHODIESTERASE (PTHR11347) |
Descriptions
PDE5A plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. PDE5A contains a catalytic domain that hydrolyzes cGMP and a regulatory (R) domain (1-539) that contains two GAFs, a and b. The R domain binds cGMP allosterically, provides for dimerization, and is phosphorylated at a site regulated by allosteric cGMP binding. The sequence containing GAF b and its flanking amino acids (403-539) autoinhibits the cGMP-binding affinity of GAF a.
Autoinhibitory domains (AIDs)
Target domain |
238-321 (GAF a domain) |
Relief mechanism |
Ligand binding |
Assay |
Mutagenesis experiment |
Accessory elements
No accessory elements
References
- Zoraghi R et al. (2005) "Structural and functional features in human PDE5A1 regulatory domain that provide for allosteric cGMP binding, dimerization, and regulation", The Journal of biological chemistry, 280, 12051-63
- Francis SH et al. (2011) "Mammalian cyclic nucleotide phosphodiesterases: molecular mechanisms and physiological functions", Physiological reviews, 91, 651-90
Autoinhibited structure
Activated structure
45 structures for O76074
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1RKP | X-ray | 205 A | A | 535-860 | PDB |
| 1T9R | X-ray | 210 A | A | 531-875 | PDB |
| 1T9S | X-ray | 200 A | A/B | 534-858 | PDB |
| 1TBF | X-ray | 130 A | A | 534-858 | PDB |
| 1UDT | X-ray | 230 A | A | 537-860 | PDB |
| 1UDU | X-ray | 283 A | A/B | 537-860 | PDB |
| 1UHO | X-ray | 250 A | A | 537-860 | PDB |
| 1XOZ | X-ray | 137 A | A | 534-875 | PDB |
| 1XP0 | X-ray | 179 A | A | 534-875 | PDB |
| 2CHM | X-ray | 160 A | PDB | ||
| 2H40 | X-ray | 185 A | A | 535-860 | PDB |
| 2H42 | X-ray | 230 A | A/B/C | 535-860 | PDB |
| 2H44 | X-ray | 180 A | A | 535-860 | PDB |
| 2XSS | X-ray | 250 A | A/B | 346-509 | PDB |
| 3B2R | X-ray | 207 A | A/B | 535-860 | PDB |
| 3BJC | X-ray | 200 A | A | 1-875 | PDB |
| 3HC8 | X-ray | 179 A | PDB | ||
| 3HDZ | X-ray | 180 A | PDB | ||
| 3JWQ | X-ray | 287 A | PDB | ||
| 3JWR | X-ray | 299 A | PDB | ||
| 3LFV | X-ray | 280 A | A/B | 98-518 | PDB |
| 3MF0 | X-ray | 310 A | A/B | 89-518 | PDB |
| 3SHY | X-ray | 265 A | A | 535-860 | PDB |
| 3SHZ | X-ray | 245 A | A | 535-860 | PDB |
| 3SIE | X-ray | 193 A | A/B | 535-860 | PDB |
| 3TGE | X-ray | 196 A | PDB | ||
| 3TGG | X-ray | 191 A | PDB | ||
| 4G2W | X-ray | 228 A | A | 535-860 | PDB |
| 4G2Y | X-ray | 240 A | A | 535-860 | PDB |
| 4I9Z | X-ray | 208 A | A | 535-860 | PDB |
| 4IA0 | X-ray | 217 A | A | 535-860 | PDB |
| 4MD6 | X-ray | 200 A | A | 535-860 | PDB |
| 4OEW | X-ray | 244 A | A | 535-860 | PDB |
| 4OEX | X-ray | 214 A | A | 535-860 | PDB |
| 5JO3 | X-ray | 149 A | B | 534-858 | PDB |
| 5ZZ2 | X-ray | 260 A | A | 535-860 | PDB |
| 6ACB | X-ray | 280 A | A | 535-860 | PDB |
| 6IWI | X-ray | 215 A | A | 535-860 | PDB |
| 6L6E | X-ray | 192 A | A | 536-861 | PDB |
| 6VBI | X-ray | 230 A | A/B | 535-859 | PDB |
| 7FAQ | X-ray | 220 A | A | 527-875 | PDB |
| 7FAR | X-ray | 240 A | A | 527-875 | PDB |
| 8W4S | X-ray | 185 A | A | 535-860 | PDB |
| 8W4T | X-ray | 220 A | A | 535-860 | PDB |
| AF-O76074-F1 | Predicted | AlphaFoldDB |
591 variants for O76074
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs988593781 CA104990160 |
2 | E>* | No |
ClinGen Ensembl |
|
|
CA3060670 rs138391597 |
2 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358204808 rs143772386 |
3 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143772386 CA3060668 |
3 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143772386 CA3060669 |
3 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1370428915 CA358204809 |
3 | R>W | No |
ClinGen TOPMed |
|
|
rs1344442052 CA358204807 |
4 | A>T | No |
ClinGen gnomAD |
|
|
CA104990159 rs923272421 |
5 | G>S | No |
ClinGen TOPMed |
|
|
CA104990158 rs199937233 |
6 | P>T | No |
ClinGen Ensembl |
|
|
rs772347394 CA3060665 |
7 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3060664 rs746075807 |
7 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs374654706 CA104990157 |
9 | G>R | No |
ClinGen ESP gnomAD |
|
|
rs374654706 CA104990156 |
9 | G>W | No |
ClinGen ESP gnomAD |
|
|
rs1296932706 CA358204769 |
10 | Q>R | No |
ClinGen TOPMed |
|
|
rs201917993 CA3060661 |
12 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201917993 CA3060662 |
12 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3060660 COSM1309655 rs777717408 |
12 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1423860812 CA358204744 |
14 | Q>R | No |
ClinGen gnomAD |
|
|
CA3060659 rs752263303 |
15 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs982063072 CA104990155 |
18 | Q>* | No |
ClinGen Ensembl |
|
|
CA3060656 rs766870293 |
18 | Q>P | No |
ClinGen ExAC TOPMed |
|
|
rs200720040 CA104990154 |
20 | Q>* | No |
ClinGen Ensembl |
|
|
CA3060655 rs199626641 |
20 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060653 rs1553931693 |
21 | K>Q | No |
ClinGen Ensembl |
|
|
rs1177833379 CA358204695 |
21 | K>R | No |
ClinGen gnomAD |
|
|
rs1240222410 CA358204690 |
22 | Q>E | No |
ClinGen gnomAD |
|
|
rs751157780 CA3060650 |
23 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs762300564 CA3060647 |
27 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA104990153 rs762300564 |
27 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA358204645 rs1578843664 |
28 | D>H | No |
ClinGen Ensembl |
|
|
CA3060646 rs777089446 |
29 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs769301807 CA3060645 |
30 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs769301807 CA358204633 |
30 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs373409642 CA104990151 |
32 | A>V | No |
ClinGen gnomAD |
|
|
rs1258426124 CA358204610 |
33 | W>* | No |
ClinGen TOPMed |
|
|
rs200775504 CA104990149 |
33 | W>R | No |
ClinGen TOPMed |
|
|
rs761024525 CA3060643 |
36 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1416080930 CA358204567 |
39 | D>A | No |
ClinGen gnomAD |
|
|
CA104990148 rs1023819017 |
40 | F>S | No |
ClinGen Ensembl |
|
|
CA358204554 rs775709114 |
41 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060642 rs775709114 |
41 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437521799 CA358204543 |
42 | F>L | No |
ClinGen gnomAD |
|
|
CA358204537 rs1238998646 |
43 | S>L | No |
ClinGen TOPMed |
|
|
CA3060640 rs549339396 |
44 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148996523 CA104990147 |
45 | F>L | No |
ClinGen ESP |
|
|
CA104990146 rs201708556 |
47 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200377039 CA3060638 |
47 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200377039 CA3060639 |
47 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3060636 rs777484262 |
50 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs201243863 CA104990145 |
51 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3060588 rs781550810 |
53 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA358035576 rs1317861891 |
53 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA358035587 rs781550810 |
53 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1372903002 CA358035560 |
54 | V>A | No |
ClinGen TOPMed |
|
|
rs1302380446 CA358035545 |
56 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs755544309 CA3060587 |
56 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752046787 CA3060586 |
61 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs766494759 CA3060585 |
63 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1037304138 CA104719712 |
63 | H>Y | No |
ClinGen Ensembl |
|
|
rs960084655 CA104719710 |
64 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs941962355 CA104719709 |
64 | T>S | No |
ClinGen TOPMed |
|
|
rs982912873 CA104719704 |
66 | P>A | No |
ClinGen TOPMed |
|
|
CA3060583 rs750454250 |
67 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358035453 rs1176381077 |
67 | V>L | No |
ClinGen gnomAD |
|
|
CA3060582 rs202226125 |
70 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762029964 CA3060581 |
71 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776357461 CA3060580 |
71 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA358035419 rs1282297865 |
72 | I>T | No |
ClinGen gnomAD |
|
|
CA358035395 rs1211526997 |
74 | G>S | No |
ClinGen gnomAD |
|
|
CA358035344 rs1560639425 |
76 | T>S | No |
ClinGen Ensembl |
|
|
CA358035331 rs769085534 |
77 | E>A | No |
ClinGen gnomAD |
|
|
COSM732836 CA3060578 COSM1647714 rs200040534 |
77 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769085534 CA104719669 |
77 | E>V | No |
ClinGen gnomAD |
|
|
rs1336632327 CA358035311 |
78 | S>F | No |
ClinGen gnomAD |
|
|
rs1027737715 CA104719649 |
78 | S>T | No |
ClinGen TOPMed |
|
|
CA104719645 rs368435146 |
82 | P>H | No |
ClinGen ESP gnomAD |
|
|
CA358035260 rs368435146 |
82 | P>L | No |
ClinGen ESP gnomAD |
|
|
CA3060577 rs775540842 |
86 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA104719622 rs749825854 |
86 | S>N | No |
ClinGen Ensembl |
|
|
CA104719612 rs569895959 |
86 | S>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3060576 rs201554154 |
88 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060575 rs150282561 |
88 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358035222 rs150282561 |
88 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1160864157 CA358035213 |
90 | D>G | No |
ClinGen gnomAD |
|
|
CA3060574 rs778424747 |
90 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160864157 CA358035208 |
90 | D>V | No |
ClinGen gnomAD |
|
|
CA3060573 rs770491205 |
92 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358035173 rs1560639322 |
92 | S>N | No |
ClinGen Ensembl |
|
|
CA358035160 rs3733526 |
93 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358035158 rs3733526 |
93 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3733526 CA3060572 VAR_027775 |
93 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3060571 rs781466287 |
94 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780569076 CA104719581 |
98 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201583753 CA104719588 |
98 | T>P | No |
ClinGen Ensembl |
|
|
rs780569076 CA3060568 |
98 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA104719568 rs200891860 |
108 | R>Q | No |
ClinGen Ensembl |
|
|
rs758846598 CA3060567 |
108 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201098972 CA3060565 |
114 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA104719526 rs201410931 |
115 | V>L | No |
ClinGen Ensembl |
|
|
CA3060564 rs200305402 |
117 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3060563 rs754072049 |
119 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs377697778 CA3060560 |
119 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs76373430 RCV000889527 CA3060562 |
119 | E>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1560639170 CA358034434 |
125 | L>F | No |
ClinGen Ensembl |
|
|
rs1339158585 CA358034399 |
126 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201435038 CA3060557 |
128 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3060556 rs770460612 |
131 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3060554 rs777450636 |
133 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs769396473 CA3060553 |
134 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201234386 CA104719488 |
136 | L>P | No |
ClinGen TOPMed |
|
|
rs144279361 CA3060550 |
137 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3060551 rs144279361 |
137 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746375265 CA3060549 |
138 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060548 rs778910896 |
139 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs370244791 CA3060547 |
139 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358034131 rs778910896 |
139 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs764438096 CA3060545 |
142 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA104719404 rs202160683 |
143 | H>D | No |
ClinGen 1000Genomes |
|
|
CA3060544 rs752541919 |
143 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358034065 rs1273865685 |
143 | H>R | No |
ClinGen gnomAD |
|
|
rs201202370 CA104719398 |
145 | E>D | No |
ClinGen TOPMed |
|
|
CA3060542 rs199934822 |
146 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358034024 rs1304059199 |
146 | G>R | No |
ClinGen gnomAD |
|
|
CA358034014 rs759447201 |
147 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759447201 CA3060541 |
147 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915813139 CA104719366 |
150 | S>L | No |
ClinGen TOPMed |
|
|
rs774321285 CA3060540 |
150 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs868102037 CA104719360 |
152 | L>P | No |
ClinGen Ensembl |
|
|
rs1322036047 CA358033940 |
156 | V>A | No |
ClinGen gnomAD |
|
|
CA3060539 rs765845116 |
157 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA358033933 rs142085089 |
157 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1467282505 CA358033904 |
159 | I>T | No |
ClinGen TOPMed |
|
|
rs143358473 CA3060537 |
160 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1170406212 CA358033888 |
161 | S>C | No |
ClinGen TOPMed |
|
|
CA104719348 rs886090198 |
161 | S>R | No |
ClinGen Ensembl |
|
|
CA104719347 rs777285381 |
162 | H>N | No |
ClinGen gnomAD |
|
|
CA3060536 rs542462320 |
164 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1376822613 CA358033802 |
167 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA358033806 rs1376822613 |
167 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199990802 CA3060533 |
171 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA104719324 rs796771053 |
172 | I>M | No |
ClinGen Ensembl |
|
|
CA104719325 rs201806148 |
172 | I>V | No |
ClinGen Ensembl |
|
|
CA3060532 rs746404938 |
175 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs200837957 CA104719323 |
176 | I>V | No |
ClinGen TOPMed |
|
|
rs199598721 CA3060530 |
178 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA104719299 rs199830507 |
178 | G>E | No |
ClinGen Ensembl |
|
|
VAR_027776 CA3060528 rs17051276 |
181 | S>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200614611 CA104719284 |
184 | R>C | No |
ClinGen gnomAD |
|
|
rs142619828 CA3060527 |
184 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766109256 CA3060526 |
185 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA358033575 rs1303618226 |
185 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs199558706 CA104719268 |
187 | L>Q | No |
ClinGen Ensembl |
|
|
CA3060524 rs201501062 |
189 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA104719254 rs200355052 |
190 | V>F | No |
ClinGen Ensembl |
|
|
CA104719238 rs920795512 |
191 | C>Y | No |
ClinGen TOPMed |
|
|
CA104719229 rs199576466 |
194 | S>N | No |
ClinGen Ensembl |
|
|
rs1455374722 CA358033456 |
195 | S>C | No |
ClinGen gnomAD |
|
|
CA104719224 rs370533932 |
196 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060520 rs370533932 |
196 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753808201 CA104719210 |
200 | L>P | No |
ClinGen gnomAD |
|
|
CA3060519 rs772776746 |
203 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104719208 rs964954525 |
203 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA104719207 rs200301083 |
205 | F>L | No |
ClinGen Ensembl |
|
|
CA3060518 rs764715157 |
206 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA104719195 rs766383291 |
209 | E>K | No |
ClinGen Ensembl |
|
|
CA104719192 rs761504157 |
210 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761504157 CA3060517 |
210 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358033063 rs1285843267 |
212 | T>A | No |
ClinGen gnomAD |
|
|
rs1238937041 CA358033023 |
213 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3060515 rs201124508 |
213 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA104719186 rs918092226 |
216 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA358032909 rs1442251085 |
217 | S>L | No |
ClinGen gnomAD |
|
|
rs200274828 CA3060514 |
220 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200274828 CA104719174 |
220 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060513 rs201655857 |
222 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200971951 CA3060512 |
222 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749750127 CA3060511 |
225 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1375802431 CA358032720 |
225 | W>R | No |
ClinGen gnomAD |
|
|
CA3060510 rs778055086 |
226 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs769969841 CA3060509 |
228 | G>V | No |
ClinGen ExAC |
|
|
CA358032621 rs1177997727 |
229 | I>S | No |
ClinGen gnomAD |
|
|
rs201218529 CA358032618 |
230 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201218529 CA104719109 |
230 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA358032605 rs1255573014 |
232 | H>P | No |
ClinGen gnomAD |
|
|
rs755105826 CA3060506 COSM1050482 |
235 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3060504 rs779709524 |
240 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs199850375 CA3060503 |
241 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290946441 CA358032487 |
242 | I>V | No |
ClinGen gnomAD |
|
|
CA104719058 rs202070622 |
243 | K>R | No |
ClinGen gnomAD |
|
|
rs200718233 CA104719048 |
244 | D>G | No |
ClinGen Ensembl |
|
|
CA358032433 rs1297536367 |
245 | A>T | No |
ClinGen gnomAD |
|
|
rs539265272 CA358030234 |
248 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3060483 rs539265272 |
248 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3060480 rs753355410 |
250 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs753355410 CA3060481 |
250 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3060482 rs778846944 |
250 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201241993 CA3060479 |
252 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200284542 CA358030161 |
255 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs200284542 CA3060478 |
255 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA358030147 rs1250340691 |
257 | Q>* | No |
ClinGen gnomAD |
|
|
CA3060476 rs766804562 |
258 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA104713260 rs900774629 |
260 | G>S | No |
ClinGen Ensembl |
|
|
rs763440660 CA3060475 |
261 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA3060474 rs773661637 |
262 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3060473 rs770436837 |
263 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3060472 rs762343571 |
264 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA358030020 rs1463610073 |
268 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA358030023 rs1463610073 |
268 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA358029983 rs1355580840 |
271 | I>V | No |
ClinGen gnomAD |
|
|
CA3060470 rs202071544 |
272 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358029944 rs1414604508 |
273 | N>K | No |
ClinGen gnomAD |
|
|
CA358029950 rs1474198346 |
273 | N>S | No |
ClinGen TOPMed |
|
|
rs1433180469 CA358029936 |
274 | H>Y | No |
ClinGen gnomAD |
|
|
CA3060468 rs200880547 |
275 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA3060450 rs775578600 |
280 | G>D | No |
ClinGen ExAC |
|
|
rs1560619144 CA358022489 |
282 | A>V | No |
ClinGen Ensembl |
|
|
rs988889444 CA104698917 |
283 | Q>H | No |
ClinGen Ensembl |
|
|
CA3060447 rs370843426 |
285 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358022406 rs1422385484 |
286 | N>S | No |
ClinGen TOPMed |
|
|
rs749290718 CA3060445 |
289 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3060443 rs141970683 |
292 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3060442 rs141970683 |
292 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1318201973 CA358022264 |
294 | T>I | No |
ClinGen TOPMed |
|
|
CA3060441 rs780782231 |
296 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358022243 rs1452780337 |
296 | T>I | No |
ClinGen TOPMed |
|
|
CA3060440 rs199972075 |
297 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3060438 rs765735728 |
300 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1396104929 CA358022006 |
302 | D>E | No |
ClinGen gnomAD |
|
|
rs200753718 CA3060416 |
305 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1195007733 CA358021972 |
307 | L>F | No |
ClinGen gnomAD |
|
|
CA3060415 rs778191725 |
310 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs866198935 CA104698120 |
311 | G>D | No |
ClinGen Ensembl |
|
|
CA358021921 rs1273962648 |
315 | H>R | No |
ClinGen gnomAD |
|
|
CA3060413 rs753185197 |
317 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1337961461 CA358021881 |
318 | Q>R | No |
ClinGen gnomAD |
|
|
rs1272461965 CA358021867 |
319 | L>F | No |
ClinGen gnomAD |
|
|
CA3060412 rs371212980 |
320 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3060411 rs759646086 |
325 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751592581 CA358021679 |
326 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3060408 rs763170017 |
330 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA358021579 rs1450668400 |
330 | N>T | No |
ClinGen TOPMed |
|
|
CA104696844 rs183868303 |
337 | A>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA104696843 rs201948362 |
338 | S>I | No |
ClinGen gnomAD |
|
|
rs201948362 CA358021035 |
338 | S>N | No |
ClinGen gnomAD |
|
|
rs1007210084 CA104696842 |
340 | I>V | No |
ClinGen Ensembl |
|
|
rs1183121193 CA358020899 |
342 | E>G | No |
ClinGen gnomAD |
|
|
CA358020865 rs1485657832 |
343 | E>* | No |
ClinGen gnomAD |
|
|
CA358020800 rs1417054128 |
345 | Q>* | No |
ClinGen gnomAD |
|
|
CA358020760 rs1256047338 |
346 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3060384 rs370479838 |
349 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3060383 rs771584938 |
350 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3060382 rs146066089 |
351 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358020415 rs1347918914 |
354 | I>T | No |
ClinGen gnomAD |
|
|
CA3060380 rs770444120 |
355 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs200428296 COSM1739025 COSM1739026 CA3060379 |
356 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA358020281 rs1416332603 |
359 | I>V | No |
ClinGen gnomAD |
|
|
rs755548074 CA3060377 |
361 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA104696773 rs866820898 |
361 | F>L | No |
ClinGen Ensembl |
|
|
rs202163126 CA3060376 |
362 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3060374 rs758536618 |
370 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780046769 CA3060375 |
370 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA3060372 rs765508541 |
371 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM420226 CA3060373 rs201004401 |
371 | I>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1472743595 CA358035338 |
372 | V>M | No |
ClinGen TOPMed |
|
|
rs148453628 CA104725611 |
373 | D>A | No |
ClinGen 1000Genomes |
|
|
rs1469117827 CA358035310 |
374 | E>D | No |
ClinGen gnomAD |
|
|
CA104725590 rs199906496 |
375 | D>A | No |
ClinGen TOPMed |
|
|
CA104725597 rs142828505 |
375 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142828505 CA3060371 |
375 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753750400 CA3060370 |
376 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs763965873 CA3060369 |
377 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310266147 CA358035142 |
378 | D>H | No |
ClinGen TOPMed |
|
|
CA104723865 rs200570290 |
379 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA358035110 rs200570290 |
379 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1272239032 CA358035062 |
382 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs758772600 CA3060356 |
382 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1272239032 CA358035060 |
382 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs199575802 CA104723845 |
383 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1212904351 CA358034929 |
387 | E>* | No |
ClinGen TOPMed |
|
|
rs1363834591 CA358034891 |
389 | E>K | No |
ClinGen gnomAD |
|
|
CA3060354 rs778851454 |
392 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757609096 CA3060353 |
393 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3060352 rs754087237 |
397 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3060351 rs548853969 |
399 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755002503 CA3060328 |
401 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3060327 rs373229756 |
402 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA104719832 rs202181651 |
404 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3060325 rs202181651 |
404 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA104719828 rs749383969 |
405 | N>K | No |
ClinGen Ensembl |
|
|
CA358033226 rs1316379319 |
407 | I>M | No |
ClinGen gnomAD |
|
|
CA554176137 rs1225556824 |
409 | Y>* | No |
ClinGen gnomAD |
|
|
rs201433268 CA104719825 |
410 | M>I | No |
ClinGen TOPMed |
|
|
CA3060324 rs749877256 |
410 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200294136 CA3060323 |
411 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141518216 CA3060321 |
415 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1413255808 CA358033042 |
415 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3060320 rs772299846 |
416 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200427991 CA104719796 |
418 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060319 rs200427991 |
418 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104719758 rs201079123 |
423 | N>S | No |
ClinGen Ensembl |
|
|
rs199921025 CA3060318 |
424 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201605463 CA104719744 |
427 | V>A | No |
ClinGen Ensembl |
|
|
CA3060317 rs771519921 |
428 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3060316 rs749396832 |
430 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1560612980 CA358032671 |
434 | P>L | No |
ClinGen Ensembl |
|
|
rs777935693 CA3060315 |
434 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770211756 CA3060314 |
435 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991951136 CA104719168 |
438 | E>K | No |
ClinGen TOPMed |
|
|
rs111392964 CA104719167 |
439 | N>D | No |
ClinGen Ensembl |
|
|
CA358032549 rs1375257108 |
439 | N>S | No |
ClinGen TOPMed |
|
|
CA358032534 rs1187946564 |
440 | T>I | No |
ClinGen gnomAD |
|
|
rs1298640816 CA358032528 |
441 | G>E | No |
ClinGen gnomAD |
|
|
rs774802341 CA3060300 |
441 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA104719157 rs937218088 |
442 | N>D | No |
ClinGen TOPMed |
|
|
rs1302668301 CA358032510 |
443 | V>I | No |
ClinGen TOPMed |
|
|
CA358032481 rs1259839893 |
445 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA104719155 rs932060114 |
446 | Q>R | No |
ClinGen gnomAD |
|
|
CA3060298 rs763553024 |
448 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3060297 rs773486166 |
450 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA358032397 rs1359024852 |
452 | L>R | No |
ClinGen gnomAD |
|
|
CA358032375 rs1231558410 |
454 | T>A | No |
ClinGen TOPMed |
|
|
CA3060296 rs769741817 |
454 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060295 rs748444075 |
455 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs140995705 CA3060293 |
465 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1436880220 CA358032291 |
465 | I>V | No |
ClinGen gnomAD |
|
|
CA358031100 rs1332374518 |
470 | L>V | No |
ClinGen gnomAD |
|
|
rs1176527676 CA358031081 |
472 | N>S | No |
ClinGen TOPMed |
|
|
rs763669871 CA3060285 |
475 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752039342 CA3060283 |
476 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA358031031 rs1174070525 |
479 | G>S | No |
ClinGen TOPMed |
|
|
RCV000898383 rs114790192 CA3060282 |
480 | K>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs964117875 CA104714134 |
481 | V>L | No |
ClinGen Ensembl |
|
|
CA358031012 rs1578758820 |
482 | K>E | No |
ClinGen Ensembl |
|
|
CA358030986 rs1172026377 |
485 | N>K | No |
ClinGen gnomAD |
|
|
CA3060281 rs763605594 |
485 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1332075239 COSM1050480 CA358030983 |
486 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA358030984 rs1332075239 |
486 | R>G | No |
ClinGen TOPMed |
|
|
CA3060280 COSM169046 rs773825482 |
486 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201438950 CA3060279 |
487 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768825245 CA3060276 |
488 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs202155712 CA3060274 |
489 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200355800 CA3060275 COSM3825063 COSM3825064 |
489 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3060273 rs376685056 |
492 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs896028359 CA104714093 |
493 | E>* | No |
ClinGen TOPMed |
|
|
rs1279144747 CA358030923 |
495 | F>S | No |
ClinGen gnomAD |
|
|
rs745618059 CA3060272 |
496 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1274441304 CA358030908 |
497 | I>M | No |
ClinGen TOPMed |
|
|
CA3060270 rs78277416 |
501 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA358030882 rs1274978806 |
501 | L>S | No |
ClinGen gnomAD |
|
|
CA358030875 rs1435534100 |
502 | G>E | No |
ClinGen TOPMed |
|
|
rs748755561 CA3060269 |
502 | G>R | No |
ClinGen ExAC |
|
|
rs755784333 CA358030873 |
503 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410144882 CA358030871 |
503 | I>T | No |
ClinGen gnomAD |
|
|
CA3060267 rs755784333 |
503 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104714067 rs201675470 |
505 | N>K | No |
ClinGen ExAC |
|
|
CA3060265 rs201675470 |
505 | N>K | No |
ClinGen ExAC |
|
|
rs752378712 CA3060266 |
505 | N>S | No |
ClinGen ExAC |
|
|
rs758865632 CA3060264 |
506 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758865632 CA104714063 |
506 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560608294 CA358030851 |
507 | Q>E | No |
ClinGen Ensembl |
|
|
CA3060263 rs750769569 |
507 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs765677295 CA3060262 |
508 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358030840 rs765677295 |
508 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060261 rs200041323 |
509 | Y>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA358030815 rs1168691447 |
512 | V>M | No |
ClinGen TOPMed |
|
|
CA358030803 rs909999174 |
513 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1158021808 CA358030801 |
514 | R>G | No |
ClinGen gnomAD |
|
|
rs753924082 CA3060260 |
517 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs764211651 CA3060259 |
520 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475081854 CA358030738 |
522 | T>I | No |
ClinGen gnomAD |
|
|
CA358030737 rs138621648 |
523 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3060240 rs754337892 |
527 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229757884 CA358030371 |
537 | T>A | No |
ClinGen gnomAD |
|
|
CA104712650 rs868621291 |
539 | E>A | No |
ClinGen Ensembl |
|
|
rs201567342 CA104712657 |
539 | E>K | No |
ClinGen gnomAD |
|
|
rs760762013 CA358030329 |
541 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760762013 CA3060238 |
541 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358030313 rs1433218262 |
542 | S>* | No |
ClinGen gnomAD |
|
|
rs142017762 CA3060235 |
544 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3060206 rs201992682 |
545 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3060205 rs761826672 |
546 | A>T | No |
ClinGen ExAC |
|
|
CA104706349 rs925996484 |
547 | V>L | No |
ClinGen Ensembl |
|
|
CA3060204 rs776328101 |
548 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs746461999 CA3060202 |
551 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775226595 CA3060201 |
551 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1338154245 CA358029181 |
552 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3060200 rs771562220 |
554 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA104706311 rs146620333 |
558 | D>Y | No |
ClinGen 1000Genomes |
|
|
rs1258330089 CA358029118 |
561 | F>L | No |
ClinGen gnomAD |
|
|
rs778103038 CA3060198 |
562 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202121251 CA104706271 |
563 | D>E | No |
ClinGen Ensembl |
|
|
rs199919242 CA104706278 |
563 | D>Y | No |
ClinGen Ensembl |
|
|
CA358029010 rs1411067625 |
573 | L>P | No |
ClinGen gnomAD |
|
|
rs1433273590 CA358029019 |
573 | L>V | No |
ClinGen gnomAD |
|
|
rs967396997 CA104706251 |
574 | C>Y | No |
ClinGen Ensembl |
|
|
CA3060193 COSM1539110 rs569083571 |
577 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3060194 rs182361575 COSM202511 |
577 | R>W | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA104706232 rs754056697 |
581 | D>G | No |
ClinGen gnomAD |
|
|
CA358028905 rs1466670759 |
582 | L>F | No |
ClinGen TOPMed |
|
|
rs1200071649 CA358028897 |
583 | N>S | No |
ClinGen gnomAD |
|
|
CA358028873 rs1376032220 |
585 | V>G | No |
ClinGen TOPMed |
|
|
CA358028854 rs1387323377 |
586 | Q>H | No |
ClinGen TOPMed |
|
|
rs201137519 CA3060191 |
587 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs959212403 CA104706201 |
588 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA358028808 rs1328644754 |
589 | Q>H | No |
ClinGen gnomAD |
|
|
CA358028799 rs1230814278 |
590 | M>I | No |
ClinGen gnomAD |
|
|
CA3060190 rs750311708 |
590 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA104706195 rs1034526436 |
590 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358028790 rs1351462443 |
591 | K>* | No |
ClinGen gnomAD |
|
|
CA358028775 rs1293009533 |
591 | K>N | No |
ClinGen gnomAD |
|
|
CA358028759 rs199971841 |
592 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3060177 rs150334535 |
594 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150334535 CA3060178 |
594 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1210694532 CA358028014 |
603 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA358028006 rs1203322876 |
603 | K>N | No |
ClinGen TOPMed |
|
|
CA358028016 rs1210694532 |
603 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs901912620 CA104703712 |
603 | K>T | No |
ClinGen TOPMed |
|
|
rs768986684 CA3060176 |
604 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1265376573 CA358027925 |
607 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs74858495 CA104703702 |
607 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74858495 CA3060175 |
607 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265376573 CA358027922 |
607 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA104703696 rs140281959 |
608 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3060174 rs779995549 |
611 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs779995549 CA358027849 |
611 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3060173 rs200506990 |
617 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs200867498 CA104703680 |
618 | A>G | No |
ClinGen Ensembl |
|
|
rs1560600233 CA358027714 |
618 | A>T | No |
ClinGen Ensembl |
|
|
CA358027663 rs1578739518 |
621 | T>A | No |
ClinGen Ensembl |
|
|
CA104703678 rs199541416 |
622 | A>S | No |
ClinGen 1000Genomes |
|
|
rs199872206 CA3060171 |
625 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389209309 CA358027531 |
628 | A>T | No |
ClinGen gnomAD |
|
|
CA104703656 rs1010069521 |
631 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA104703641 rs1054788062 |
632 | G>S | No |
ClinGen TOPMed |
|
|
rs1560600187 CA358027422 |
633 | K>T | No |
ClinGen Ensembl |
|
|
rs1165724179 CA358027370 |
635 | Q>H | No |
ClinGen gnomAD |
|
|
CA3060170 rs374789851 |
635 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000903640 rs116396619 CA3060149 |
641 | L>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA358027024 rs1332687579 |
644 | L>H | No |
ClinGen gnomAD |
|
|
CA358027035 rs1230478717 |
644 | L>I | No |
ClinGen gnomAD |
|
|
CA3060147 rs759073586 |
647 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1057106923 CA104702635 |
648 | I>M | No |
ClinGen TOPMed |
|
|
CA3060146 rs201618319 |
648 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578737744 CA358026913 |
651 | L>P | No |
ClinGen Ensembl |
|
|
CA358026896 rs1394453449 |
652 | S>N | No |
ClinGen TOPMed |
|
|
rs200619248 CA3060144 |
654 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA104702614 rs779240405 |
656 | D>G | No |
ClinGen Ensembl |
|
|
CA3060142 rs764332919 |
656 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA104702610 rs200210551 |
658 | R>H | No |
ClinGen gnomAD |
|
|
CA358026794 rs1479053353 |
658 | R>S | No |
ClinGen gnomAD |
|
|
rs200562028 CA104702604 |
661 | N>H | No |
ClinGen Ensembl |
|
|
rs982740215 CA104702597 |
662 | N>S | No |
ClinGen TOPMed |
|
|
rs1006153524 CA104702587 |
663 | S>F | No |
ClinGen Ensembl |
|
|
CA3060140 rs775883450 |
663 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA358026660 rs1439216954 |
665 | I>M | No |
ClinGen TOPMed |
|
|
CA358026666 rs1254475574 |
665 | I>T | No |
ClinGen gnomAD |
|
|
CA358026640 rs1324425031 |
666 | Q>H | No |
ClinGen gnomAD |
|
|
rs772573606 CA3060139 |
667 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438005042 CA358026634 |
667 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs754842807 CA3060130 |
668 | S>C | No |
ClinGen ExAC |
|
|
rs201402226 CA3060128 |
671 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs970775657 CA104699216 |
677 | C>Y | No |
ClinGen Ensembl |
|
|
rs199811295 CA358024729 |
680 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3060125 rs199811295 |
680 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248763239 CA358024651 |
683 | H>Y | No |
ClinGen TOPMed |
|
|
CA358024514 rs1319923035 |
688 | Q>H | No |
ClinGen gnomAD |
|
|
rs535643361 CA104699207 |
691 | M>T | No |
ClinGen Ensembl |
|
|
rs1317384743 CA358023543 |
697 | G>S | No |
ClinGen TOPMed |
|
|
rs757923661 CA3060107 |
698 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1028956232 CA104697804 |
699 | Q>H | No |
ClinGen TOPMed |
|
|
CA358023513 rs1425697284 |
699 | Q>R | No |
ClinGen gnomAD |
|
|
CA358023502 rs1365752929 |
700 | I>F | No |
ClinGen gnomAD |
|
|
rs749889209 CA3060106 |
703 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1232242405 CA358023447 |
704 | L>F | No |
ClinGen gnomAD |
|
|
CA358023419 rs1421081840 |
706 | I>T | No |
ClinGen gnomAD |
|
|
CA104697800 rs984174120 |
706 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1477632810 CA358023362 |
710 | K>E | No |
ClinGen gnomAD |
|
|
rs764800707 CA3060105 |
712 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060103 rs376595968 |
713 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA104697773 rs918516625 |
718 | Q>H | No |
ClinGen Ensembl |
|
|
rs1275697690 CA358023260 |
719 | A>T | No |
ClinGen gnomAD |
|
|
rs1489103094 CA358023204 |
723 | T>I | No |
ClinGen TOPMed |
|
|
rs1191086968 CA358023188 |
724 | D>E | No |
ClinGen TOPMed |
|
|
CA358023153 rs1203329429 |
727 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs780094649 CA104697766 |
728 | Y>H | No |
ClinGen Ensembl |
|
|
rs760158117 CA358023133 |
729 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760158117 CA3060100 |
729 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060071 rs761983531 |
732 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA358022909 rs761983531 |
732 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA358022887 rs1298447171 |
733 | G>E | No |
ClinGen gnomAD |
|
|
CA358022893 rs1553923410 |
733 | G>R | No |
ClinGen Ensembl |
|
|
CA3060070 rs776859323 |
736 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1356970255 CA358022811 |
737 | E>* | No |
ClinGen gnomAD |
|
|
rs201830023 CA3060069 |
739 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201830023 CA104696765 |
739 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000879985 CA3060068 rs139979143 |
740 | R>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1411192229 CA358022694 |
742 | N>I | No |
ClinGen gnomAD |
|
|
rs546809053 CA3060067 |
743 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3060066 rs534339421 |
743 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358022599 rs1181567151 |
748 | D>E | No |
ClinGen gnomAD |
|
|
CA358022588 rs1223331040 |
749 | P>L | No |
ClinGen TOPMed |
|
|
rs903494913 CA104696743 |
749 | P>T | No |
ClinGen gnomAD |
|
|
rs745794935 CA3060065 |
750 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3060062 rs748760240 |
755 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1279937854 CA358022444 |
756 | L>V | No |
ClinGen TOPMed |
|
|
rs769633277 CA3060040 |
757 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377700448 CA3060038 |
758 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747784532 CA3060039 |
758 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1363916806 CA358022141 |
760 | M>L | No |
ClinGen gnomAD |
|
|
rs994917229 CA358022123 |
762 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746158331 CA3060035 |
762 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104696151 rs994917229 |
762 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358022108 rs1385614333 |
764 | D>E | No |
ClinGen gnomAD |
|
|
CA358022066 rs538880395 |
771 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA104696147 rs538880395 |
771 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA358022067 rs538880395 |
771 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757753753 CA3060033 |
773 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3060032 rs200968351 |
774 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104696103 rs200040557 |
775 | Q>H | No |
ClinGen TOPMed |
|
|
rs374510132 CA358022026 |
777 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374510132 CA3060031 |
777 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553869290 CA104696099 COSM1050473 |
777 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs114886951 CA358021897 |
778 | I>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114886951 CA3060009 RCV000960249 |
778 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA358021882 rs1210827583 |
780 | E>K | No |
ClinGen Ensembl |
|
|
rs778211360 CA3060008 |
781 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1197017569 CA358021854 |
782 | V>A | No |
ClinGen gnomAD |
|
|
rs766247839 CA104694833 |
783 | A>P | No |
ClinGen Ensembl |
|
|
rs756207036 CA3060007 |
784 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358021753 rs752659273 |
788 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3060006 rs752659273 |
788 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104694826 rs201756535 |
788 | D>Y | No |
ClinGen Ensembl |
|
|
rs755150979 CA3060004 |
789 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs945121554 CA104694803 |
791 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA104694780 rs967267680 |
792 | R>K | No |
ClinGen Ensembl |
|
|
COSM3696407 COSM3696408 CA3060001 rs139562384 |
796 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA104694772 rs139562384 |
796 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3059999 rs144726852 |
799 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199517948 CA3060000 |
799 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA358021538 rs1174883550 |
801 | P>L | No |
ClinGen gnomAD |
|
|
rs531645466 CA3059998 |
802 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3059963 rs149385790 |
803 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3059962 rs200615863 |
803 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464771651 CA358020485 |
813 | I>T | No |
ClinGen TOPMed |
|
|
CA3059957 rs150693234 |
814 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773951518 CA104694005 |
816 | M>I | No |
ClinGen gnomAD |
|
|
CA358020378 rs773951518 |
816 | M>I | No |
ClinGen gnomAD |
|
|
CA104694007 rs917719406 |
816 | M>T | No |
ClinGen TOPMed |
|
|
CA3059956 rs375276077 |
819 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150671601 CA104693993 |
821 | I>M | No |
ClinGen ESP |
|
|
CA3059954 rs202047445 |
821 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358020250 rs1438011874 |
821 | I>V | No |
ClinGen TOPMed |
|
|
CA358020218 rs1326913005 |
822 | D>E | No |
ClinGen TOPMed |
|
|
CA358020153 rs1405163131 |
825 | C>Y | No |
ClinGen gnomAD |
|
|
CA104693988 rs200768019 |
828 | L>M | No |
ClinGen Ensembl |
|
|
rs1268175176 CA358020069 |
828 | L>P | No |
ClinGen TOPMed |
|
|
rs199573045 CA3059950 |
830 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1052118351 CA104692963 |
831 | A>T | No |
ClinGen gnomAD |
|
|
CA554168786 rs1201324424 |
832 | L>QWMLLILSVQ* | No |
ClinGen gnomAD |
|
|
rs1232545198 CA358019236 |
834 | H>P | No |
ClinGen gnomAD |
|
|
CA358019221 rs779232858 |
835 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779232858 CA3059930 |
835 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906449549 CA104692956 |
838 | D>G | No |
ClinGen Ensembl |
|
|
CA3059929 rs757023722 |
838 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1465690702 CA358019158 |
839 | C>Y | No |
ClinGen TOPMed |
|
|
CA104692954 rs367914889 |
840 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs749053188 CA3059928 |
841 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA358019108 rs1352707895 |
843 | L>Q | No |
ClinGen TOPMed |
|
|
rs144055854 CA3059926 |
844 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578715612 CA358019077 |
844 | D>H | No |
ClinGen Ensembl |
|
|
rs1345692649 CA358019022 |
847 | R>K | No |
ClinGen gnomAD |
|
|
rs1407055273 CA358018882 |
855 | A>D | No |
ClinGen TOPMed |
|
|
CA358018892 rs1297296503 |
855 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs140289122 CA3059923 |
860 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140289122 CA3059924 |
860 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358018805 rs1578715540 |
861 | E>G | No |
ClinGen Ensembl |
|
|
rs201716853 CA104692937 |
861 | E>Q | No |
ClinGen Ensembl |
|
|
rs762264354 CA358018774 |
863 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3059921 rs751248499 |
863 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3059920 rs762264354 |
863 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776990088 CA3059918 |
864 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs202223380 CA3059917 |
866 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761239684 CA3059916 |
866 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358018719 rs1175770478 |
868 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA358018703 rs1196747974 |
869 | S>G | No |
ClinGen TOPMed |
|
|
CA358018685 rs61729962 |
870 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3059913 rs201689484 |
870 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs61729962 CA3059914 |
870 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1460338740 CA358018654 |
872 | A>D | No |
ClinGen gnomAD |
|
|
COSM138452 CA3059911 rs548850010 |
874 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA104692900 rs202172602 |
874 | R>W | No |
ClinGen TOPMed gnomAD |
No associated diseases with O76074
4 regional properties for O76074
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 36 - 291 | IPR000719 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 36 - 283 | IPR001245 |
| active_site | Serine/threonine-protein kinase, active site | 152 - 164 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 42 - 63 | IPR017441 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.35 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11347 | CYCLIC NUCLEOTIDE PHOSPHODIESTERASE |
| PANTHER Subfamily | PTHR11347:SF230 | HIGH AFFINITY CGMP-SPECIFIC 3',5'-CYCLIC PHOSPHODIESTERASE 9A |
| PANTHER Protein Class | phosphodiesterase | |
| PANTHER Pathway Category | No pathway information available | |
1 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3',5'-cyclic-GMP phosphodiesterase activity | Catalysis of the reaction: 3',5'-cyclic GMP + H2O = GMP + H+. |
| 3',5'-cyclic-nucleotide phosphodiesterase activity | Catalysis of the reaction: a nucleoside 3',5'-cyclic phosphate + H2O = a nucleoside 5'-phosphate. |
| cGMP binding | Binding to cGMP, the nucleotide cyclic GMP (guanosine 3',5'-cyclophosphate). |
| metal ion binding | Binding to a metal ion. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cGMP catabolic process | The chemical reactions and pathways resulting in the breakdown of cyclic GMP, guanosine 3',5'-phosphate. |
| negative regulation of cardiac muscle contraction | Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle contraction. |
| negative regulation of T cell proliferation | Any process that stops, prevents or reduces the rate or extent of T cell proliferation. |
| positive regulation of cardiac muscle hypertrophy | Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. |
| positive regulation of MAP kinase activity | Any process that activates or increases the frequency, rate or extent of MAP kinase activity. |
| positive regulation of oocyte development | Any process that increases the rate or extent of the process whose specific outcome is the progression of an oocyte over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. |
| regulation of nitric oxide mediated signal transduction | Any process that modulates the rate, frequency or extent of nitric oxide mediated signal transduction. Nitric oxide mediated signal transduction is The series of molecular signals mediated by the detection of nitric oxide (NO). |
| relaxation of cardiac muscle | The process in which the extent of cardiac muscle contraction is reduced. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
35 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P23439 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Bos taurus (Bovine) | PR |
| Q28156 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Bos taurus (Bovine) | SS |
| P52731 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Gallus gallus (Chicken) | PR |
| H2QL32 | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Pan troglodytes (Chimpanzee) | PR |
| O77746 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Canis lupus familiaris (Dog) (Canis familiaris) | SS |
| Q9W4T4 | dnc | 3',5'-cyclic-AMP phosphodiesterase, isoform I | Drosophila melanogaster (Fruit fly) | SS |
| Q9VJ79 | Pde11 | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11 | Drosophila melanogaster (Fruit fly) | SS |
| O60658 | PDE8A | High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A | Homo sapiens (Human) | PR |
| P27815 | PDE4A | cAMP-specific 3',5'-cyclic phosphodiesterase 4A | Homo sapiens (Human) | EV SS |
| Q07343 | PDE4B | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Homo sapiens (Human) | EV SS |
| Q08493 | PDE4C | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Homo sapiens (Human) | EV SS |
| Q08499 | PDE4D | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Homo sapiens (Human) | EV |
| O76083 | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Homo sapiens (Human) | PR |
| P54750 | PDE1A | Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A | Homo sapiens (Human) | PR |
| Q9Y233 | PDE10A | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Homo sapiens (Human) | PR |
| Q9HCR9 | PDE11A | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Homo sapiens (Human) | SS |
| P35913 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Homo sapiens (Human) | PR |
| P51160 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Homo sapiens (Human) | PR |
| P23440 | Pde6b | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Mus musculus (Mouse) | PR |
| O89084 | Pde4a | 3',5'-cyclic-AMP phosphodiesterase 4A | Mus musculus (Mouse) | SS |
| O70628 | Pde9a | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Mus musculus (Mouse) | PR |
| Q8CA95 | Pde10a | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Mus musculus (Mouse) | PR |
| P0C1Q2 | Pde11a | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Mus musculus (Mouse) | SS |
| Q3UEI1 | Pde4c | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Mus musculus (Mouse) | PR |
| Q01063 | Pde4d | 3',5'-cyclic-AMP phosphodiesterase 4D | Mus musculus (Mouse) | SS |
| Q8CG03 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Mus musculus (Mouse) | SS |
| Q8QZV1 | Pde9a | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Rattus norvegicus (Rat) | PR |
| P14646 | Pde4b | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Rattus norvegicus (Rat) | SS |
| Q8VID6 | Pde11a | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Rattus norvegicus (Rat) | SS |
| P14644 | Pde4c | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Rattus norvegicus (Rat) | PR |
| P54748 | Pde4a | 3',5'-cyclic-AMP phosphodiesterase 4A | Rattus norvegicus (Rat) | SS |
| Q9QYJ6 | Pde10a | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Rattus norvegicus (Rat) | PR |
| P14270 | Pde4d | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Rattus norvegicus (Rat) | PR |
| O54735 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Rattus norvegicus (Rat) | SS |
| Q22000 | pde-4 | Probable 3',5'-cyclic phosphodiesterase pde-4 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERAGPSFGQ | QRQQQQPQQQ | KQQQRDQDSV | EAWLDDHWDF | TFSYFVRKAT | REMVNAWFAE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RVHTIPVCKE | GIRGHTESCS | CPLQQSPRAD | NSAPGTPTRK | ISASEFDRPL | RPIVVKDSEG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TVSFLSDSEK | KEQMPLTPPR | FDHDEGDQCS | RLLELVKDIS | SHLDVTALCH | KIFLHIHGLI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SADRYSLFLV | CEDSSNDKFL | ISRLFDVAEG | STLEEVSNNC | IRLEWNKGIV | GHVAALGEPL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NIKDAYEDPR | FNAEVDQITG | YKTQSILCMP | IKNHREEVVG | VAQAINKKSG | NGGTFTEKDE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KDFAAYLAFC | GIVLHNAQLY | ETSLLENKRN | QVLLDLASLI | FEEQQSLEVI | LKKIAATIIS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FMQVQKCTIF | IVDEDCSDSF | SSVFHMECEE | LEKSSDTLTR | EHDANKINYM | YAQYVKNTME |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PLNIPDVSKD | KRFPWTTENT | GNVNQQCIRS | LLCTPIKNGK | KNKVIGVCQL | VNKMEENTGK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VKPFNRNDEQ | FLEAFVIFCG | LGIQNTQMYE | AVERAMAKQM | VTLEVLSYHA | SAAEEETREL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QSLAAAVVPS | AQTLKITDFS | FSDFELSDLE | TALCTIRMFT | DLNLVQNFQM | KHEVLCRWIL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SVKKNYRKNV | AYHNWRHAFN | TAQCMFAALK | AGKIQNKLTD | LEILALLIAA | LSHDLDHRGV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NNSYIQRSEH | PLAQLYCHSI | MEHHHFDQCL | MILNSPGNQI | LSGLSIEEYK | TTLKIIKQAI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LATDLALYIK | RRGEFFELIR | KNQFNLEDPH | QKELFLAMLM | TACDLSAITK | PWPIQQRIAE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LVATEFFDQG | DRERKELNIE | PTDLMNREKK | NKIPSMQVGF | IDAICLQLYE | ALTHVSEDCF |
| 850 | 860 | 870 | |||
| PLLDGCRKNR | QKWQALAEQQ | EKMLINGESG | QAKRN |