Q08499
EV
Gene name |
PDE4D |
Protein name |
cAMP-specific 3',5'-cyclic phosphodiesterase 4D |
Names |
DPDE3, PDE43 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5144 |
EC number |
3.1.4.53: Phosphoric diester hydrolases |
Protein Class |
CYCLIC NUCLEOTIDE PHOSPHODIESTERASE (PTHR11347) |
Descriptions
PDE4D encodes a cAMP-specific 3',5'-cyclic phosphodiesterase 4D involved in the hydrolysis of cAMP and cGMP, which play important roles in many physiological processes. The autoinhibitory domain of PDE4D is located in the upstream conserved region 2 (UCR2) that inhibits PDE4D activity. Specifically, the α-helical NQVSE[F/Y]ISXTFLD sequence within UCR2 can fold across the catalytic pocket and thus control access to it. In addition, UCR1 can interact with UCR2 to regulate the activity of PDE4.
Autoinhibitory domains (AIDs)
Target domain |
386-715 (3'5'-cyclic nucleotide phosphodiesterase, catalytic domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Structural analysis |
Target domain |
386-715 (3'5'-cyclic nucleotide phosphodiesterase, catalytic domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
References
- Burgin AB et al. (2010) "Design of phosphodiesterase 4D (PDE4D) allosteric modulators for enhancing cognition with improved safety", Nature biotechnology, 28, 63-70
- Beard MB et al. (2000) "UCR1 and UCR2 domains unique to the cAMP-specific phosphodiesterase family form a discrete module via electrostatic interactions", The Journal of biological chemistry, 275, 10349-58
- Houslay MD et al. (2010) "Putting the lid on phosphodiesterase 4", Nature biotechnology, 28, 38-40
Autoinhibited structure
Activated structure
110 structures for Q08499
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1E9K | NMR | - | A | - | PDB |
| 1MKD | X-ray | 290 A | A/B/C/D/E/F/G/H/I/J/K/L | 388-715 | PDB |
| 1OYN | X-ray | 200 A | A/B/C/D | 381-740 | PDB |
| 1PTW | X-ray | 230 A | A/B/C/D | 381-740 | PDB |
| 1Q9M | X-ray | 230 A | A/B/C/D | 381-740 | PDB |
| 1TB7 | X-ray | 163 A | A/B | 388-715 | PDB |
| 1TBB | X-ray | 160 A | A/B | 388-715 | PDB |
| 1XOM | X-ray | 155 A | A/B | 388-715 | PDB |
| 1XON | X-ray | 172 A | A/B | 388-715 | PDB |
| 1XOQ | X-ray | 183 A | A/B | 388-715 | PDB |
| 1XOR | X-ray | 154 A | A/B | 388-715 | PDB |
| 1Y2B | X-ray | 140 A | A/B | 388-715 | PDB |
| 1Y2C | X-ray | 167 A | A/B | 388-715 | PDB |
| 1Y2D | X-ray | 170 A | A/B | 388-715 | PDB |
| 1Y2E | X-ray | 210 A | A/B | 388-715 | PDB |
| 1Y2K | X-ray | 136 A | A/B | 388-715 | PDB |
| 1ZKN | X-ray | 210 A | A/B/C/D | 381-714 | PDB |
| 2FM0 | X-ray | 200 A | A/B/C/D | 381-741 | PDB |
| 2FM5 | X-ray | 203 A | A/B/C/D | 381-741 | PDB |
| 2PW3 | X-ray | 156 A | A/B | 388-714 | PDB |
| 2QYN | X-ray | 157 A | A/B | 388-715 | PDB |
| 3G4G | X-ray | 230 A | PDB | ||
| 3G4I | X-ray | 190 A | A/B/C/D | 380-753 | PDB |
| 3G4K | X-ray | 195 A | A/B/C/D | 380-753 | PDB |
| 3G4L | X-ray | 250 A | A/B/C/D | 380-753 | PDB |
| 3G58 | X-ray | 205 A | A/B/C/D | 380-753 | PDB |
| 3IAD | X-ray | 265 A | PDB | ||
| 3IAK | X-ray | 280 A | A | 388-715 | PDB |
| 3K4S | X-ray | 205 A | A | 388-715 | PDB |
| 3SL3 | X-ray | 210 A | A/B/C/D | 381-741 | PDB |
| 3SL4 | X-ray | 190 A | A/B/C/D | 381-741 | PDB |
| 3SL5 | X-ray | 265 A | A/B/C/D | 381-714 | PDB |
| 3SL6 | X-ray | 244 A | A/B/C/D | 381-741 | PDB |
| 3SL8 | X-ray | 260 A | A/B/C/D | 381-741 | PDB |
| 3V9B | X-ray | 210 A | A/B/C/D | 381-740 | PDB |
| 4OGB | X-ray | 203 A | A/B/C/D | 381-741 | PDB |
| 4W1O | X-ray | 220 A | A/B/C/D | 381-739 | PDB |
| 4WCU | X-ray | 235 A | A/B/C/D | 381-739 | PDB |
| 5K1I | X-ray | 261 A | A/B/C/D/E/F/G/H | 388-713 | PDB |
| 5K32 | X-ray | 199 A | A/B | 390-713 | PDB |
| 5LBO | X-ray | 225 A | A/B/C/D | 381-740 | PDB |
| 5TKB | X-ray | 216 A | A/B/C/D | 380-753 | PDB |
| 5WH5 | X-ray | 180 A | A/B | 388-714 | PDB |
| 5WH6 | X-ray | 160 A | A/B | 303-809 | PDB |
| 5WQA | X-ray | 230 A | A/B | 381-714 | PDB |
| 6AKR | X-ray | 233 A | A/B/C/D | 381-740 | PDB |
| 6BOJ | X-ray | 170 A | PDB | ||
| 6F6U | X-ray | 183 A | A/B | 380-714 | PDB |
| 6F8R | X-ray | 183 A | A/B | 380-714 | PDB |
| 6F8T | X-ray | 180 A | A/B | 380-714 | PDB |
| 6F8U | X-ray | 210 A | A/B | 380-714 | PDB |
| 6F8V | X-ray | 185 A | A/B | 380-714 | PDB |
| 6F8W | X-ray | 160 A | A/B | 380-714 | PDB |
| 6F8X | X-ray | 195 A | A/B | 380-715 | PDB |
| 6FDC | X-ray | 145 A | A/B | 380-714 | PDB |
| 6FDI | X-ray | 190 A | A/B/C/D | 381-740 | PDB |
| 6FE7 | X-ray | 200 A | A/B/C/D | 381-740 | PDB |
| 6FEB | X-ray | 193 A | A/B | 381-740 | PDB |
| 6FET | X-ray | 188 A | A/B/C/D | 381-740 | PDB |
| 6FT0 | X-ray | 210 A | A/B/C/D | 381-740 | PDB |
| 6FTA | X-ray | 234 A | A/B/C/D | 381-740 | PDB |
| 6FTW | X-ray | 216 A | A/B/C/D | 381-740 | PDB |
| 6FW3 | X-ray | 178 A | A/B/C/D | 381-740 | PDB |
| 6HWO | X-ray | 199 A | A/B/C/D | 381-740 | PDB |
| 6IAG | X-ray | 200 A | A/B/C/D | 381-740 | PDB |
| 6IBF | X-ray | 231 A | A/B/C/D | 381-740 | PDB |
| 6IM6 | X-ray | 170 A | A/B | 388-715 | PDB |
| 6IMB | X-ray | 155 A | A/B | 388-715 | PDB |
| 6IMD | X-ray | 150 A | A/B | 388-715 | PDB |
| 6IMI | X-ray | 146 A | A/B | 388-715 | PDB |
| 6IMO | X-ray | 155 A | A/B | 388-715 | PDB |
| 6IMR | X-ray | 150 A | A/B | 388-715 | PDB |
| 6IMT | X-ray | 148 A | A/B | 388-715 | PDB |
| 6IND | X-ray | 187 A | A/B | 388-715 | PDB |
| 6INK | X-ray | 170 A | A/B | 388-715 | PDB |
| 6INM | X-ray | 200 A | A/B | 388-715 | PDB |
| 6KJZ | X-ray | 220 A | A/B | 387-714 | PDB |
| 6KK0 | X-ray | 220 A | A/B | 388-713 | PDB |
| 6LRM | X-ray | 145 A | A/B | 388-715 | PDB |
| 6NJH | X-ray | 215 A | PDB | ||
| 6NJI | X-ray | 245 A | PDB | ||
| 6NJJ | X-ray | 230 A | PDB | ||
| 6RCW | X-ray | 208 A | A/B/C/D | 381-740 | PDB |
| 6ZBA | X-ray | 160 A | AAA/BBB/CCC/DDD | 381-738 | PDB |
| 7A8Q | X-ray | 224 A | A/B/C/D | 381-740 | PDB |
| 7A9V | X-ray | 217 A | A/B/C/D | 381-740 | PDB |
| 7AAG | X-ray | 179 A | A/B/C/D | 381-740 | PDB |
| 7AB9 | X-ray | 219 A | A/B/C/D | 381-740 | PDB |
| 7ABD | X-ray | 241 A | A/B/C/D | 381-740 | PDB |
| 7ABE | X-ray | 183 A | A/B/C/D | 381-740 | PDB |
| 7ABJ | X-ray | 211 A | A/B/C/D | 381-740 | PDB |
| 7AY6 | X-ray | 166 A | A/B | 380-714 | PDB |
| 7B9H | X-ray | 150 A | A/B | 380-714 | PDB |
| 7CBJ | X-ray | 150 A | A/B | 388-715 | PDB |
| 7CBQ | X-ray | 159 A | A/B | 388-715 | PDB |
| 7F2K | X-ray | 210 A | A/B | 303-809 | PDB |
| 7F2L | X-ray | 210 A | A/B | 303-809 | PDB |
| 7F2M | X-ray | 220 A | A/B | 303-809 | PDB |
| 7W4X | X-ray | 220 A | A/B | 380-751 | PDB |
| 7W4Y | X-ray | 210 A | A/B | 380-751 | PDB |
| 7XAA | X-ray | 210 A | A/B | 303-809 | PDB |
| 7XAB | X-ray | 200 A | A/B | 303-809 | PDB |
| 7XBB | X-ray | 210 A | A/B | 303-809 | PDB |
| 7YQF | X-ray | 154 A | A/B | 388-715 | PDB |
| 7YSX | X-ray | 165 A | A/B | 388-715 | PDB |
| 8K4C | X-ray | 210 A | A/B | 388-715 | PDB |
| 8K4H | X-ray | 195 A | A/B | 388-715 | PDB |
| 8W4Q | X-ray | 155 A | A/B | 388-715 | PDB |
| 8W4R | X-ray | 137 A | A/B | 388-715 | PDB |
| AF-Q08499-F1 | Predicted | AlphaFoldDB |
433 variants for Q08499
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs372946517 RCV000388985 CA3276684 |
42 | P>Q | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA128850 rs397514466 RCV000022937 VAR_068242 |
190 | S>A | Acrodysostosis 2, with or without hormone resistance (acrdys2) ACRDYS2 Acrodysostosis 2 with or without hormone resistance [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1751144333 RCV001262446 |
190 | S>F | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000022935 rs397514464 CA128846 VAR_068243 |
225 | P>T | Acrodysostosis 2, with or without hormone resistance (acrdys2) ACRDYS2 Acrodysostosis 2 with or without hormone resistance [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA150719 RCV000087310 rs397514465 |
226 | F>C | Acrodysostosis 2, with or without hormone resistance (acrdys2) Acrodysostosis 2 with or without hormone resistance [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA128848 RCV000022936 rs397514465 VAR_068244 |
226 | F>S | Acrodysostosis 2, with or without hormone resistance (acrdys2) ACRDYS2 Acrodysostosis 2 with or without hormone resistance [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397514468 VAR_069449 CA128854 RCV000022939 |
228 | Q>E | Acrodysostosis 2, with or without hormone resistance (acrdys2) ACRDYS2 Acrodysostosis 2 with or without hormone resistance [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001152150 rs749222606 CA3276326 |
261 | P>T | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780848487 RCV001152149 CA3276321 |
265 | K>T | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_069451 CA130730 rs397515433 RCV000033154 |
304 | A>V | Acrodysostosis 2, with or without hormone resistance (acrdys2) ACRDYS2 Acrodysostosis 2 with or without hormone resistance [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs750666346 RCV001157620 CA3276109 |
418 | R>W | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001155919 rs1747740719 |
425 | H>P | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001155918 rs1747451452 |
445 | I>V | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000984667 COSM1194817 COSM1194819 COSM1194821 COSM1194818 COSM1194816 rs1580132131 CA359817187 COSM1194820 COSM1194822 |
447 | Y>H | lung Esophageal atresia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1379060456 CA359816864 RCV001199197 |
492 | I>M | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001155917 CA3276037 rs757175453 RCV001859017 |
526 | N>S | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA128852 VAR_068245 rs397514467 RCV000022938 |
587 | T>P | Acrodysostosis 2, with or without hormone resistance (acrdys2) ACRDYS2 Acrodysostosis 2 with or without hormone resistance [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000585454 rs1554033934 RCV000504451 CA359814822 |
588 | M>V | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1743815247 RCV001270705 |
592 | K>Q | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761294824 CA3276011 RCV001153313 |
602 | L>F | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000022940 rs387906744 CA128856 |
651 | E>A | Acrodysostosis 2, with or without hormone resistance (acrdys2) Acrodysostosis 2 with or without hormone resistance [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA128858 VAR_069454 RCV000022941 rs397514469 |
673 | G>D | Acrodysostosis 2, with or without hormone resistance (acrdys2) ACRDYS2 Acrodysostosis 2 with or without hormone resistance [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_069455 rs587777188 RCV001854509 CA150721 RCV000087311 |
678 | I>T | Acrodysostosis 2, with or without hormone resistance (acrdys2) ACRDYS2 Acrodysostosis 2 with or without hormone resistance [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1743358464 RCV001270704 |
684 | E>G | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759832724 CA3275924 RCV000714845 |
727 | R>W | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA359812591 rs1290453118 RCV001153312 RCV001882476 |
754 | S>G | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1743287865 RCV001153311 |
785 | E>D | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001152048 rs1186516969 |
789 | V>E | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001152047 rs747415773 CA3275892 |
801 | V>I | Acrodysostosis 2 with or without hormone resistance [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA359933294 rs1248858612 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs1044783142 CA359933283 |
4 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA359933279 rs1211297841 |
5 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA359933277 rs1490334173 |
5 | G>D | No |
ClinGen gnomAD |
|
|
rs754644349 CA359933252 |
9 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754644349 CA3276687 |
9 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1271829629 CA359933246 |
10 | A>S | No |
ClinGen gnomAD |
|
|
rs1279805665 CA359933243 |
10 | A>V | No |
ClinGen TOPMed |
|
|
CA359933242 rs1212487777 |
11 | R>G | No |
ClinGen gnomAD |
|
|
CA359933240 rs1312350146 |
11 | R>Q | No |
ClinGen TOPMed |
|
|
CA3276686 rs746187639 |
13 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA359933219 rs781502665 |
14 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225337341 CA359933226 |
14 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1343568016 CA359933217 |
15 | G>R | No |
ClinGen gnomAD |
|
|
CA359933208 rs1301323490 |
16 | E>G | No |
ClinGen gnomAD |
|
|
CA359933200 rs1328341402 |
17 | G>V | No |
ClinGen gnomAD |
|
|
rs967054471 CA119327237 |
18 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA359933195 rs1371296025 |
18 | S>T | No |
ClinGen gnomAD |
|
|
rs1408496387 CA359933191 |
19 | D>N | No |
ClinGen gnomAD |
|
|
rs1173533774 CA359933177 |
20 | S>R | No |
ClinGen gnomAD |
|
|
rs1427632092 CA359933179 |
20 | S>T | No |
ClinGen gnomAD |
|
|
CA119327235 rs1023884504 |
21 | A>T | No |
ClinGen TOPMed |
|
|
rs1480373658 CA359933167 |
22 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA359933165 rs1480373658 |
22 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1014928103 CA119327234 |
25 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA119327228 rs866360475 |
28 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1348597968 CA359933123 COSM1069193 |
29 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA359933118 rs1443798737 |
30 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA359933092 rs1275744663 |
33 | W>* | No |
ClinGen TOPMed |
|
|
rs995039096 CA119327226 |
35 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA359933078 rs995039096 |
35 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA359933075 rs1202827142 |
36 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA119327224 rs899317244 |
38 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372946517 CA359933026 |
42 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359933027 rs372946517 |
42 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1279095632 CA359933017 |
44 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1279095632 CA359933015 |
44 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs375819387 CA119327220 |
46 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA359932995 rs1469593065 |
47 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1337747427 CA359932997 |
47 | Q>R | No |
ClinGen gnomAD |
|
|
rs911899480 CA119327218 |
49 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA359932983 rs1162000110 |
49 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1162000110 CA359932982 |
49 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA119327216 rs572195775 |
51 | L>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA359932952 rs1473550661 |
54 | H>R | No |
ClinGen gnomAD |
|
|
CA119327214 rs1039169116 |
56 | H>P | No |
ClinGen Ensembl |
|
|
rs1237714125 CA359932926 |
58 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359932921 rs1373208779 |
59 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA119327212 rs933916686 |
59 | P>L | No |
ClinGen TOPMed |
|
|
CA359932918 rs933916686 |
59 | P>R | No |
ClinGen TOPMed |
|
|
CA3276682 rs764578237 |
60 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1411722004 CA359932898 |
63 | P>S | No |
ClinGen TOPMed |
|
|
rs1411722004 CA359932899 |
63 | P>T | No |
ClinGen TOPMed |
|
|
rs1269857478 CA359932889 |
64 | S>L | No |
ClinGen gnomAD |
|
|
rs1316277460 CA359932872 |
67 | P>S | No |
ClinGen gnomAD |
|
|
rs1316277460 CA359932874 |
67 | P>T | No |
ClinGen gnomAD |
|
|
CA3276681 rs758440775 |
70 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs921170011 CA119327207 |
70 | Q>R | No |
ClinGen TOPMed |
|
|
CA3276680 rs752736720 |
72 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA359932836 rs752736720 |
72 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA359932833 rs1408359710 |
73 | L>P | No |
ClinGen TOPMed |
|
|
rs1349445879 CA359932811 |
76 | P>L | No |
ClinGen TOPMed |
|
|
CA119327198 rs925784488 |
79 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs765507833 CA3276679 |
79 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3276676 rs777036225 |
80 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777036225 CA359932792 |
80 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs759869715 CA3276677 |
80 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000519992 rs1184611767 |
81 | L>missing | No |
ClinVar dbSNP |
|
|
rs1232706958 CA359932780 |
82 | P>L | No |
ClinGen gnomAD |
|
|
CA359932777 rs1472496774 |
83 | P>S | No |
ClinGen TOPMed |
|
|
rs967065693 CA119327189 |
84 | P>T | No |
ClinGen TOPMed |
|
|
CA359932768 rs1023936942 |
85 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA119327187 rs1023936942 |
85 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1249600634 CA359932744 |
89 | G>R | No |
ClinGen gnomAD |
|
|
rs1412182087 CA359932740 |
89 | G>V | No |
ClinGen gnomAD |
|
|
CA3276673 rs558790690 |
90 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359932727 rs773134882 |
92 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs773134882 CA3276672 |
92 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA119327179 rs1034636680 |
93 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359932716 rs1323581778 |
94 | R>C | No |
ClinGen gnomAD |
|
|
CA119327177 rs372577747 |
94 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359932705 rs1357564218 |
96 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359932703 rs1357564218 |
96 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1207096418 CA359932694 |
97 | S>L | No |
ClinGen TOPMed |
|
|
CA359932695 rs1207096418 |
97 | S>W | No |
ClinGen TOPMed |
|
|
CA359932682 rs1287595740 |
99 | G>E | No |
ClinGen gnomAD |
|
|
rs1163623992 CA359932685 |
99 | G>R | No |
ClinGen gnomAD |
|
|
rs1439301442 CA359932679 |
100 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1442096481 CA359932668 |
101 | T>I | No |
ClinGen TOPMed |
|
|
CA3276669 rs773877840 |
102 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561828391 CA359932667 |
102 | G>S | No |
ClinGen Ensembl |
|
|
rs1422320736 CA359932658 |
103 | R>H | No |
ClinGen gnomAD |
|
|
CA359932646 rs1581631183 |
105 | R>P | No |
ClinGen Ensembl |
|
|
CA359932640 rs1448134331 |
106 | H>R | No |
ClinGen TOPMed |
|
|
CA359932611 rs1561828324 |
110 | S>L | No |
ClinGen Ensembl |
|
|
CA359932590 rs370095823 |
113 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359932580 rs1488775661 |
115 | Y>H | No |
ClinGen gnomAD |
|
|
rs1221878559 CA359932560 |
118 | C>R | No |
ClinGen gnomAD |
|
|
rs1277006573 CA359932548 |
119 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1277006573 CA359932549 |
119 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs747343167 CA3276664 |
120 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA359932543 rs1334169585 |
120 | A>V | No |
ClinGen TOPMed |
|
|
CA359932537 rs1293952608 |
121 | M>R | No |
ClinGen gnomAD |
|
|
rs1307278112 CA359932541 |
121 | M>V | No |
ClinGen gnomAD |
|
|
CA3276663 rs778288029 |
122 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1384356342 CA359932524 |
123 | R>C | No |
ClinGen TOPMed |
|
|
CA359932522 rs1231008532 |
123 | R>H | No |
ClinGen gnomAD |
|
|
rs917710480 CA119327163 |
127 | A>V | No |
ClinGen Ensembl |
|
|
rs1051787358 CA119327160 |
129 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs752782297 CA3276661 |
131 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs932027290 CA119327158 |
131 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1480701345 CA359932472 |
132 | H>N | No |
ClinGen gnomAD |
|
|
rs866796539 CA359932464 |
133 | R>G | No |
ClinGen gnomAD |
|
|
rs866796539 CA119327154 |
133 | R>W | No |
ClinGen gnomAD |
|
|
rs372484896 CA119327152 |
134 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA359932438 rs1196589888 |
137 | K>N | No |
ClinGen gnomAD |
|
|
rs1581630366 CA359932422 |
140 | R>G | No |
ClinGen Ensembl |
|
|
CA119327148 rs866407148 |
140 | R>M | No |
ClinGen Ensembl |
|
|
rs1039661325 CA119327146 |
141 | M>K | No |
ClinGen TOPMed |
|
|
rs754107598 CA3276658 |
142 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766711112 CA359932378 |
146 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359932380 rs1212712022 |
146 | S>P | No |
ClinGen gnomAD |
|
|
rs766711112 CA3276657 |
146 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA119327141 rs867397273 |
148 | Q>R | No |
ClinGen Ensembl |
|
|
CA119327138 rs867065202 |
149 | G>* | No |
ClinGen Ensembl |
|
|
rs973999806 CA119327136 |
152 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359932340 rs973999806 |
152 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773745652 CA3276422 |
159 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3276421 rs772608117 |
160 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3276419 rs562952667 |
161 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780090398 CA3276416 |
163 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1069189 COSM1069186 COSM1069188 COSM1069187 COSM1595448 COSM1595447 COSM1069190 rs749395945 CA3276417 |
163 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA359931059 rs1363477204 |
164 | S>G | No |
ClinGen TOPMed |
|
|
CA3276415 rs756389970 |
165 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168647282 CA359931041 |
166 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1303629213 CA359931044 |
166 | L>S | No |
ClinGen TOPMed |
|
|
CA3276414 rs372954941 |
167 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA359931032 rs780941133 |
168 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190895236 CA359931029 |
168 | P>L | No |
ClinGen gnomAD |
|
|
rs780941133 CA3276413 |
168 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561730762 CA359931003 |
172 | P>S | No |
ClinGen Ensembl |
|
|
CA3276411 rs764024044 |
175 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3276410 rs764024044 |
175 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1726177 COSM1726178 rs757789550 COSM1726174 CA3276409 COSM1726175 COSM1726179 COSM1726173 COSM1726176 |
177 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA359930933 rs1312305936 |
183 | V>A | No |
ClinGen gnomAD |
|
|
CA3276408 rs375081915 |
183 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1245712072 CA359930924 |
184 | H>Q | No |
ClinGen TOPMed |
|
|
CA3276407 rs764761417 |
185 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs759197521 CA3276406 |
185 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359930917 rs1375168640 |
186 | Q>K | No |
ClinGen gnomAD |
|
|
CA119158605 rs765474542 |
187 | R>Q | No |
ClinGen Ensembl |
|
|
rs1331825221 CA359930904 |
188 | R>W | No |
ClinGen gnomAD |
|
|
CA359930885 rs1561730426 RCV000762145 |
191 | F>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001268137 rs1751141961 |
192 | L>P | No |
ClinVar dbSNP |
|
|
COSM1069184 COSM1595450 rs1488614653 COSM1069181 COSM1595449 COSM1069185 CA359930865 COSM1069183 COSM1069182 |
194 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA359930860 rs1249867223 |
195 | S>P | No |
ClinGen TOPMed |
|
|
COSM1176958 COSM1176961 COSM1176957 COSM1176962 rs1010105315 COSM1176960 CA359930855 COSM1176963 COSM1176959 |
196 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA119158603 rs1010105315 |
196 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1175561902 CA359930827 |
199 | Y>F | No |
ClinGen gnomAD |
|
|
rs762270122 CA3276402 |
201 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA119158602 rs895770261 |
206 | M>T | No |
ClinGen TOPMed |
|
|
CA119158601 rs926956807 |
208 | R>Q | No |
ClinGen Ensembl |
|
|
CA3276398 rs775608955 |
208 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359930636 rs1581425404 |
213 | A>V | No |
ClinGen Ensembl |
|
|
CA119158600 rs1036024674 |
214 | S>C | No |
ClinGen TOPMed |
|
|
COSM449944 COSM449942 CA359930598 COSM449943 rs1236617747 COSM1486883 COSM449941 COSM1486884 COSM449940 |
216 | I>T | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3276378 rs763492345 |
218 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs202012782 CA119155946 |
227 | A>D | No |
ClinGen 1000Genomes |
|
|
CA3276356 rs776726294 |
234 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1069178 COSM1069176 COSM1595451 rs766490621 COSM1595452 CA3276355 COSM1069180 COSM1069179 COSM1069177 |
234 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1387701505 CA359930414 |
236 | V>I | No |
ClinGen gnomAD |
|
|
COSM1595454 COSM1069171 rs773367832 COSM1069174 COSM1069172 COSM1069175 COSM1595453 COSM1069173 CA3276353 |
237 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA359930402 rs1433192550 |
238 | N>Y | No |
ClinGen gnomAD |
|
|
CA359930323 rs1202749645 |
249 | R>* | No |
ClinGen Ensembl |
|
|
CA3276352 rs771830270 |
249 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747906766 CA3276351 |
250 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3276350 rs774291005 |
253 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1561654257 CA359930299 |
253 | K>T | No |
ClinGen Ensembl |
|
|
CA359930263 rs1237487684 |
256 | P>L | No |
ClinGen gnomAD |
|
|
rs773983117 CA359930266 |
256 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773983117 CA3276327 |
256 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359930256 rs1324756013 |
257 | M>I | No |
ClinGen TOPMed |
|
|
rs1347975754 CA359930252 |
258 | C>R | No |
ClinGen TOPMed |
|
|
CA3276325 rs749222606 |
261 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3276324 rs377740085 |
262 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3276323 rs769361266 |
263 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA3276322 rs372039525 |
264 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359930187 rs1242734289 |
268 | I>V | No |
ClinGen gnomAD |
|
|
rs1398425084 CA359930178 |
269 | T>K | No |
ClinGen gnomAD |
|
|
CA3276262 rs767060983 |
278 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA359818402 rs1213097056 |
279 | E>A | No |
ClinGen gnomAD |
|
|
CA359818399 rs1251062427 |
279 | E>D | No |
ClinGen gnomAD |
|
|
rs1455341183 CA359818405 |
279 | E>K | No |
ClinGen TOPMed |
|
|
CA359818394 rs1157727798 |
280 | T>I | No |
ClinGen TOPMed |
|
|
CA16604814 RCV000425291 rs1057520731 |
294 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1193514797 CA359818089 |
322 | M>V | No |
ClinGen gnomAD |
|
|
CA359818070 rs774783517 |
324 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3276180 rs774783517 |
324 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA118799784 rs1048094273 |
332 | F>L | No |
ClinGen Ensembl |
|
|
CA359817984 RCV000518901 rs1554039692 |
337 | F>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1405174140 CA359817944 |
341 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3276164 rs754651326 |
342 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs753598558 CA3276163 |
343 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA118798444 rs1036445401 |
347 | P>L | No |
ClinGen TOPMed |
|
|
CA3276161 rs757564654 |
348 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3276160 rs752044490 |
350 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3276157 rs370618257 |
351 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3276159 rs374330851 |
351 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359817810 rs1304984879 |
360 | P>T | No |
ClinGen gnomAD |
|
|
rs899992246 CA118798380 |
361 | M>I | No |
ClinGen Ensembl |
|
|
CA359817792 rs1356305921 |
362 | S>Y | No |
ClinGen gnomAD |
|
|
rs1413308053 CA359817775 |
365 | S>R | No |
ClinGen gnomAD |
|
|
CA3276153 rs770694049 |
368 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA118798330 rs561249844 |
371 | M>L | No |
ClinGen Ensembl |
|
|
CA3276151 rs746795466 |
374 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3276148 rs748140890 |
382 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1231636922 CA359817649 |
383 | R>K | No |
ClinGen TOPMed |
|
|
CA3276146 rs754598492 |
387 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359817622 rs1561253638 |
387 | K>T | No |
ClinGen Ensembl |
|
|
CA359817613 rs1262205626 |
388 | T>S | No |
ClinGen gnomAD |
|
|
CA3276145 rs748880582 |
389 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264970791 CA359817611 |
389 | E>K | No |
ClinGen TOPMed |
|
|
CA3276144 rs372918737 |
390 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3276143 rs757591581 |
391 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279634985 CA359817586 |
392 | D>G | No |
ClinGen gnomAD |
|
|
rs1208242751 CA359817523 |
399 | E>A | No |
ClinGen gnomAD |
|
|
CA359817512 rs769291366 |
400 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs552984282 CA118797210 |
406 | L>V | No |
ClinGen 1000Genomes |
|
|
rs777941503 CA359817434 |
411 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3276115 rs758765275 |
412 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3276112 rs755025717 |
416 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3276111 rs376373740 |
416 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766508184 CA3276110 |
417 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396670027 CA359817395 |
418 | R>Q | No |
ClinGen gnomAD |
|
|
rs1006783426 CA118797115 |
423 | I>T | No |
ClinGen TOPMed |
|
|
rs1251121956 CA359817352 |
425 | H>Y | No |
ClinGen gnomAD |
|
|
rs1196836267 CA359817319 |
429 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1350718408 CA359817302 |
430 | E>Q | No |
ClinGen gnomAD |
|
|
rs767902478 CA3276085 |
431 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM449934 COSM449931 COSM449930 rs1278470168 COSM449932 COSM1486880 COSM449933 COSM1486879 CA359817294 |
431 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3276084 rs761671224 |
436 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402900056 CA359817255 |
437 | F>L | No |
ClinGen TOPMed |
|
|
CA3276083 rs751360815 |
439 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA359817219 rs1357216727 |
442 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA359817217 rs1357216727 |
442 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA118796031 rs913974941 |
452 | E>K | No |
ClinGen TOPMed |
|
|
rs970290170 CA118796020 |
456 | H>R | No |
ClinGen Ensembl |
|
|
CA359817110 rs1580132001 |
457 | A>V | No |
ClinGen Ensembl |
|
|
rs992592300 CA118796016 |
458 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs528098299 CA3276078 |
460 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1188939348 CA359817090 |
461 | Y>H | No |
ClinGen gnomAD |
|
|
CA118795998 rs530605673 |
464 | N>H | No |
ClinGen Ensembl |
|
|
rs1352779128 CA359817063 |
464 | N>K | No |
ClinGen TOPMed |
|
|
CA3276077 rs367669132 |
464 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA359817057 rs1207918895 |
465 | I>T | No |
ClinGen TOPMed |
|
|
CA359817026 rs1290773788 |
470 | V>I | No |
ClinGen TOPMed |
|
|
CA3276075 rs746692609 |
476 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1293451884 CA359816958 |
480 | T>I | No |
ClinGen gnomAD |
|
|
CA359816936 rs1380798731 |
484 | E>* | No |
ClinGen Ensembl |
|
|
CA118794937 rs79055937 |
490 | L>F | No |
ClinGen Ensembl |
|
|
CA359816884 rs1348357236 |
490 | L>M | No |
ClinGen gnomAD |
|
|
rs1368076095 CA359816846 |
495 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs904055256 CA118794925 |
496 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1001030257 CA118794935 |
496 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1254220543 CA359816827 |
498 | A>V | No |
ClinGen gnomAD |
|
|
CA3276060 rs758935869 |
499 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1246619120 CA359816807 |
501 | I>M | No |
ClinGen TOPMed |
|
|
CA359816812 rs1414958981 |
501 | I>V | No |
ClinGen gnomAD |
|
|
CA3276059 rs776076740 |
504 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA359816783 rs1204783862 |
505 | D>G | No |
ClinGen gnomAD |
|
|
CA118794893 rs867615283 |
505 | D>Y | No |
ClinGen Ensembl |
|
|
CA359816776 rs1249227526 |
506 | H>Y | No |
ClinGen TOPMed |
|
|
rs1195894502 CA359816758 |
509 | V>M | No |
ClinGen TOPMed |
|
|
rs17853590 CA118794866 |
510 | S>F | No |
ClinGen ExAC |
|
|
rs17853590 CA3276057 |
510 | S>Y | No |
ClinGen ExAC |
|
|
rs1272237963 CA359816744 |
511 | N>S | No |
ClinGen gnomAD |
|
|
CA118794857 rs1016072268 |
512 | Q>P | No |
ClinGen TOPMed |
|
|
rs1386666345 CA359815795 |
524 | M>R | No |
ClinGen TOPMed |
|
|
CA359815666 rs1561216352 |
533 | N>S | No |
ClinGen Ensembl |
|
|
CA3276033 rs770069803 |
538 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA118785990 rs1013533312 |
544 | Q>L | No |
ClinGen TOPMed |
|
|
rs1238747360 CA359815435 |
549 | D>N | No |
ClinGen TOPMed |
|
|
CA118785985 rs768650775 |
557 | K>R | No |
ClinGen Ensembl |
|
|
CA3276029 rs747133328 |
565 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs777826248 CA3276028 |
566 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA118785974 rs77776824 |
567 | I>S | No |
ClinGen Ensembl |
|
|
CA3276027 rs772296200 |
569 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309634299 CA359814932 |
579 | M>I | No |
ClinGen gnomAD |
|
|
rs1554033942 RCV000658139 CA359814880 |
583 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA359814853 rs1435057344 |
585 | L>F | No |
ClinGen gnomAD |
|
|
CA359814694 rs1169604180 |
596 | S>R | No |
ClinGen TOPMed |
|
|
rs1441082063 CA359814664 |
599 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA118785386 rs866625704 |
600 | L>F | No |
ClinGen Ensembl |
|
|
CA359814619 rs1294608194 |
603 | D>N | No |
ClinGen TOPMed |
|
|
CA359814599 RCV000658017 rs1554033904 |
605 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA359814589 COSM1069149 COSM1595461 COSM1069150 rs1463279737 COSM1069148 COSM1069146 COSM1069147 COSM1595462 |
607 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1373455491 CA359814560 |
610 | Q>E | No |
ClinGen gnomAD |
|
|
CA359814386 rs1482282108 |
614 | N>D | No |
ClinGen gnomAD |
|
|
CA3275973 rs535640930 |
615 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3275972 rs767626308 |
617 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA359814329 rs1272540003 |
618 | C>S | No |
ClinGen gnomAD |
|
|
CA359814311 rs1313607193 |
619 | A>T | No |
ClinGen TOPMed |
|
|
CA359814275 rs1350715292 |
622 | S>G | No |
ClinGen gnomAD |
|
|
CA359814255 rs1580019966 |
623 | N>T | No |
ClinGen Ensembl |
|
|
rs1023537907 CA118784716 |
628 | L>F | No |
ClinGen Ensembl |
|
|
CA118784714 rs77167781 |
628 | L>P | No |
ClinGen Ensembl |
|
|
rs375852911 CA118784691 |
629 | Q>R | No |
ClinGen ESP TOPMed |
|
|
rs1407691506 CA359814201 |
630 | L>M | No |
ClinGen gnomAD |
|
|
rs1580019711 CA359814185 |
631 | Y>S | No |
ClinGen Ensembl |
|
|
CA3275970 rs374011584 |
632 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM3828251 COSM3828249 CA359814174 COSM3828252 rs1286578613 COSM3828245 COSM3828247 COSM3828246 COSM3828250 COSM3828248 |
632 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA359814161 rs1313358018 |
633 | Q>R | No |
ClinGen gnomAD |
|
|
COSM1486876 COSM267150 COSM267153 CA118784677 rs926391290 COSM267152 COSM449924 COSM1486875 COSM267151 |
635 | T>M | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs369556531 CA118784669 |
637 | R>Q | No |
ClinGen ESP |
|
|
CA359814102 rs775209507 |
637 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3275966 rs769583461 |
638 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3275965 rs376541855 |
639 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359814071 rs1412892900 |
639 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3275963 rs371950648 |
644 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3275962 rs753680481 |
644 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777455204 CA3275961 |
645 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1157136199 CA359813945 |
648 | R>* | No |
ClinGen TOPMed |
|
|
rs941039861 CA118784636 |
648 | R>Q | No |
ClinGen TOPMed |
|
|
rs1580018856 CA359813911 |
651 | E>Q | No |
ClinGen Ensembl |
|
|
CA359813905 rs1277191501 |
652 | R>C | No |
ClinGen gnomAD |
|
|
CA359813897 rs1161354400 |
653 | G>C | No |
ClinGen TOPMed |
|
|
COSM1634275 COSM1634276 COSM1634278 rs1392211986 COSM1634277 CA359813892 COSM1634280 COSM1634281 COSM1634279 |
654 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1388793262 CA359813877 |
655 | E>D | No |
ClinGen gnomAD |
|
|
rs1268462480 CA359813826 |
662 | K>R | No |
ClinGen Ensembl |
|
|
CA359813820 rs1267030767 |
663 | H>N | No |
ClinGen gnomAD |
|
|
CA359813809 rs1284551086 |
664 | N>K | No |
ClinGen gnomAD |
|
|
rs752409059 CA3275959 |
664 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371593645 CA3275957 |
667 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA118784608 rs982682220 |
669 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1199841180 CA359813676 |
674 | F>L | No |
ClinGen gnomAD |
|
|
RCV000519495 rs1554033304 CA359813632 |
677 | Y>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs746987110 CA3275939 |
679 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777359745 CA3275938 |
682 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA359813547 rs1342756183 |
685 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747795129 CA3275936 |
689 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs192644692 CA3275934 |
690 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359813420 rs1450600452 |
694 | A>T | No |
ClinGen gnomAD |
|
|
rs781640099 CA3275932 |
694 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA118784077 rs1026421522 |
695 | Q>K | No |
ClinGen Ensembl |
|
|
CA3275931 rs757650454 |
696 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA359813344 rs1246873572 |
700 | T>A | No |
ClinGen gnomAD |
|
|
rs1212267444 CA359813274 |
705 | R>C | No |
ClinGen Ensembl |
|
|
rs764157419 CA3275929 |
710 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1161941860 CA359813061 |
720 | P>S | No |
ClinGen TOPMed |
|
|
CA359813050 rs1312356137 |
721 | D>H | No |
ClinGen Ensembl |
|
|
CA3275923 rs769178419 |
727 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3275921 rs760459130 |
728 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA359812899 rs1348396215 |
731 | T>I | No |
ClinGen gnomAD |
|
|
CA359812875 rs1310211689 |
733 | K>T | No |
ClinGen gnomAD |
|
|
CA359812830 rs1409377328 |
736 | F>L | No |
ClinGen TOPMed |
|
|
rs1289089427 CA359812816 |
737 | E>K | No |
ClinGen TOPMed |
|
|
CA3275919 rs771691597 |
739 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1434350907 CA359812762 |
741 | E>K | No |
ClinGen gnomAD |
|
|
COSM1486873 COSM449920 COSM449921 COSM449923 COSM449922 COSM449919 rs1434350907 CA359812760 COSM1486874 |
741 | E>Q | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3275918 rs747706824 |
743 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190170769 CA359812710 |
744 | G>C | No |
ClinGen gnomAD |
|
|
COSM1197189 COSM1197192 COSM1197194 CA3275916 COSM1197191 COSM1197188 rs182029606 COSM1197193 COSM1197190 |
745 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs367782798 CA3275915 |
748 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1046758395 CA118783964 |
748 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs757708323 CA3275913 |
750 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs545766463 CA3275912 |
752 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778301270 CA3275911 |
753 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758442946 CA3275910 |
753 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3275908 rs765380141 |
756 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752733564 CA3275909 |
756 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA359812546 rs1400645622 |
757 | E>* | No |
ClinGen gnomAD |
|
|
rs1306674398 CA359812518 |
759 | D>H | No |
ClinGen gnomAD |
|
|
CA118783881 rs759617045 |
760 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3275907 rs759617045 |
760 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754094337 CA3275906 |
764 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1369043685 CA359812393 |
767 | T>I | No |
ClinGen TOPMed |
|
|
CA359812390 rs1412324819 |
768 | L>V | No |
ClinGen gnomAD |
|
|
CA118783856 rs1058458 |
769 | C>R | No |
ClinGen Ensembl |
|
|
CA359812315 rs1580011753 |
773 | S>* | No |
ClinGen Ensembl |
|
|
rs1168175467 CA359812273 |
779 | P>L | No |
ClinGen gnomAD |
|
|
rs375840888 CA3275902 |
780 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359812271 rs375840888 |
780 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359812267 rs1394361462 |
781 | D>N | No |
ClinGen TOPMed |
|
|
rs772172326 CA3275901 |
782 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA359812156 rs1186516969 |
789 | V>A | No |
ClinGen gnomAD |
|
|
CA359812163 rs1246841826 |
789 | V>I | No |
ClinGen TOPMed |
|
|
CA3275898 rs761867546 |
790 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1310535290 CA359812096 |
793 | E>D | No |
ClinGen gnomAD |
|
|
CA359812067 rs1270198092 |
795 | S>I | No |
ClinGen gnomAD |
|
|
rs1229281111 CA359812064 |
795 | S>R | No |
ClinGen gnomAD |
|
|
CA3275897 rs1058459 |
796 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1295172715 CA359812040 |
797 | P>S | No |
ClinGen TOPMed |
|
|
rs575611627 CA359812005 |
799 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575611627 CA3275895 |
799 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3275896 rs575611627 |
799 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA560289035 rs1561206950 |
800 | C>* | No |
ClinGen Ensembl |
|
|
CA3275894 rs779815130 |
800 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359811991 rs779815130 |
800 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201517515 CA3275891 |
802 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3275890 rs368214145 |
804 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1159391217 CA560289034 |
804 | D>V | No |
ClinGen gnomAD |
|
|
CA3275889 rs748667285 |
805 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3275888 rs775821294 |
805 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753989811 CA3275885 |
809 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with Q08499
[MIM: 614613]: Acrodysostosis 2, with or without hormone resistance (ACRDYS2)
A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. {ECO:0000269|PubMed:22464250, ECO:0000269|PubMed:22464252, ECO:0000269|PubMed:23033274, ECO:0000269|PubMed:23043190}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. {ECO:0000269|PubMed:22464250, ECO:0000269|PubMed:22464252, ECO:0000269|PubMed:23033274, ECO:0000269|PubMed:23043190}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for Q08499
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.53 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11347 | CYCLIC NUCLEOTIDE PHOSPHODIESTERASE |
| PANTHER Subfamily | PTHR11347:SF91 | CAMP-SPECIFIC 3',5'-CYCLIC PHOSPHODIESTERASE 4D |
| PANTHER Protein Class | phosphodiesterase | |
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| calcium channel complex | An ion channel complex through which calcium ions pass. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| voltage-gated calcium channel complex | A protein complex that forms a transmembrane channel through which calcium ions may pass in response to changes in membrane potential. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3',5'-cyclic-AMP phosphodiesterase activity | Catalysis of the reaction: 3',5'-cyclic AMP + H2O = AMP + H+. |
| 3',5'-cyclic-nucleotide phosphodiesterase activity | Catalysis of the reaction: a nucleoside 3',5'-cyclic phosphate + H2O = a nucleoside 5'-phosphate. |
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| beta-2 adrenergic receptor binding | Binding to a beta-2 adrenergic receptor. |
| cAMP binding | Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate). |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| heterocyclic compound binding | Binding to heterocyclic compound. |
| metal ion binding | Binding to a metal ion. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-activating adrenergic receptor signaling pathway involved in positive regulation of heart rate | An adrenergic receptor signaling pathway that contributes to an increase in frequency or rate of heart contraction. Binding of adrenalin or noradrenalin to a beta-adrenergic receptor on the surface of the signal-receiving cell results in the activation of an intracellular Gs protein. Gs activates adenylate cyclase to increase intracellular cyclic-AMP (cAMP) levels. cAMP binds directly to F-channels to allow an inward flow of sodium (known as funny current, or If current). The funny current is responsible for membrane depolarization and an increase in heart rate. |
| adrenergic receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by a ligand binding to an adrenergic receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. |
| cAMP catabolic process | The chemical reactions and pathways resulting in the breakdown of the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate). |
| cAMP-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell. |
| cellular response to cAMP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| cellular response to epinephrine stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epinephrine stimulus. Epinephrine is a catecholamine that has the formula C9H13NO3; it is secreted by the adrenal medulla to act as a hormone, and released by certain neurons to act as a neurotransmitter active in the central nervous system. |
| establishment of endothelial barrier | The establishment of a barrier between endothelial cell layers, such as those in the brain, lung or intestine, to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition. |
| negative regulation of cAMP-mediated signaling | Any process which stops, prevents, or reduces the frequency, rate or extent of cAMP-mediated signaling. |
| negative regulation of heart contraction | Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction. |
| negative regulation of peptidyl-serine phosphorylation | Any process that stops, prevents, or reduces the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| negative regulation of relaxation of cardiac muscle | Any process that stops, prevents or reduces the frequency, rate or extent of relaxation of cardiac muscle. |
| positive regulation of interferon-gamma production | Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. |
| positive regulation of interleukin-2 production | Any process that activates or increases the frequency, rate, or extent of interleukin-2 production. |
| positive regulation of interleukin-5 production | Any process that activates or increases the frequency, rate, or extent of interleukin-5 production. |
| regulation of cardiac muscle cell contraction | Any process that modulates the frequency, rate or extent of cardiac muscle cell contraction. |
| regulation of cell communication by electrical coupling involved in cardiac conduction | Any process that modulates the frequency, rate or extent of cell communication by electrical coupling involved in cardiac conduction. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | Any process that modulates the rate, frequency or extent of release of sequestered calcium ion into cytosol by the sarcoplasmic reticulum, the process in which the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol occurs via calcium release channels. |
| regulation of ryanodine-sensitive calcium-release channel activity | Any process that modulates the activity of a ryanodine-sensitive calcium-release channel. The ryanodine-sensitive calcium-release channel catalyzes the transmembrane transfer of a calcium ion by a channel that opens when a ryanodine class ligand has been bound by the channel complex or one of its constituent parts. |
| regulation of signaling receptor activity | Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. |
| 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. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
34 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q28156 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Bos taurus (Bovine) | SS |
| P23439 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Bos taurus (Bovine) | PR |
| 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 |
| Q9VJ79 | Pde11 | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11 | Drosophila melanogaster (Fruit fly) | SS |
| Q9W4T4 | dnc | 3',5'-cyclic-AMP phosphodiesterase, isoform I | 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 |
| 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 |
| O76074 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Homo sapiens (Human) | EV |
| 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 |
| Q8CG03 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Mus musculus (Mouse) | SS |
| 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 |
| 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 |
| O54735 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | 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 |
| Q22000 | pde-4 | Probable 3',5'-cyclic phosphodiesterase pde-4 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAEGSSAPA | RAGSGEGSDS | AGGATLKAPK | HLWRHEQHHQ | YPLRQPQFRL | LHPHHHLPPP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PPPSPQPQPQ | CPLQPPPPPP | LPPPPPPPGA | ARGRYASSGA | TGRVRHRGYS | DTERYLYCRA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MDRTSYAVET | GHRPGLKKSR | MSWPSSFQGL | RRFDVDNGTS | AGRSPLDPMT | SPGSGLILQA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NFVHSQRRES | FLYRSDSDYD | LSPKSMSRNS | SIASDIHGDD | LIVTPFAQVL | ASLRTVRNNF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AALTNLQDRA | PSKRSPMCNQ | PSINKATITE | EAYQKLASET | LEELDWCLDQ | LETLQTRHSV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SEMASNKFKR | MLNRELTHLS | EMSRSGNQVS | EFISNTFLDK | QHEVEIPSPT | QKEKEKKKRP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MSQISGVKKL | MHSSSLTNSS | IPRFGVKTEQ | EDVLAKELED | VNKWGLHVFR | IAELSGNRPL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TVIMHTIFQE | RDLLKTFKIP | VDTLITYLMT | LEDHYHADVA | YHNNIHAADV | VQSTHVLLST |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PALEAVFTDL | EILAAIFASA | IHDVDHPGVS | NQFLINTNSE | LALMYNDSSV | LENHHLAVGF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KLLQEENCDI | FQNLTKKQRQ | SLRKMVIDIV | LATDMSKHMN | LLADLKTMVE | TKKVTSSGVL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LLDNYSDRIQ | VLQNMVHCAD | LSNPTKPLQL | YRQWTDRIME | EFFRQGDRER | ERGMEISPMC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DKHNASVEKS | QVGFIDYIVH | PLWETWADLV | HPDAQDILDT | LEDNREWYQS | TIPQSPSPAP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DDPEEGRQGQ | TEKFQFELTL | EEDGESDTEK | DSGSQVEEDT | SCSDSKTLCT | QDSESTEIPL |
| 790 | 800 | ||||
| DEQVEEEAVG | EEEESQPEAC | VIDDRSPDT |