ADSL
adenylosuccinate lyase
Summary
The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Known Variants699 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs925724663 | 22:40,741,466 | C/T | — | uncertain significance |
| rs1437272102 | 22:40,741,476 | C/T | — | uncertain significance |
| rs934394588 | 22:40,741,477 | G/A | — | uncertain significance |
| rs2146607081 | 22:40,741,485 | C/T | — | uncertain significance |
| rs1386684080 | 22:40,741,488 | A/C | — | uncertain significance |
| rs2146607102 | 22:40,741,499 | T/C | — | uncertain significance |
| rs2044101814 | 22:40,741,506 | G/A | — | uncertain significance |
| rs1162168332 | 22:40,741,509 | C/G | — | uncertain significance |
| rs2044102028 | 22:40,741,511 | A/T | — | uncertain significance |
| rs988634184 | 22:40,741,517 | A/C | — | uncertain significance |
| rs2044102302 | 22:40,741,518 | C/T | — | uncertain significance |
| rs751367 | 22:40,741,520 | T/C | — | benign |
| rs896057121 | 22:40,741,521 | T/C | — | uncertain significance |
| rs753742645 | 22:40,741,534 | C/T | — | uncertain significance |
| rs2044103206 | 22:40,741,548 | T/C | — | uncertain significance |
| rs2518073624 | 22:40,741,561 | A/G | — | uncertain significance |
| rs2044103495 | 22:40,741,564 | T/C | — | uncertain significance |
| rs1014469698 | 22:40,741,567 | C/T | — | uncertain significance |
| rs2146607321 | 22:40,741,570 | G/T | — | uncertain significance |
| rs1358901512 | 22:40,741,572 | C/A | — | uncertain significance |
| rs2518073691 | 22:40,741,575 | T/G | — | uncertain significance |
| rs1224954877 | 22:40,741,577 | T/C | — | uncertain significance |
| rs9607708 | 22:40,741,591 | A/G | — | uncertain significance |
| rs3044499 | 22:40,741,592 | A/G | — | benign |
| rs549370926 | 22:40,741,593 | G/A | — | benign |
| rs897965743 | 22:40,741,594 | G/T | — | uncertain significance |
| rs1350358123 | 22:40,741,595 | G/T | — | uncertain significance |
| rs950048889 | 22:40,741,596 | G/A | — | uncertain significance |
| rs1044326761 | 22:40,741,598 | G/C | — | uncertain significance |
| rs905746040 | 22:40,741,599 | G/T | — | uncertain significance |
| rs1452350017 | 22:40,741,600 | G/A | — | uncertain significance |
| rs1470349903 | 22:40,741,601 | G/A | — | uncertain significance |
| rs941360483 | 22:40,741,602 | C/G | — | uncertain significance |
| rs1471151327 | 22:40,741,604 | A/G | — | uncertain significance |
| rs1364287314 | 22:40,741,605 | C/G | — | uncertain significance |
| rs2146607753 | 22:40,741,608 | G/A | — | uncertain significance |
| rs2518073983 | 22:40,741,610 | G/A | — | uncertain significance |
| rs1178062153 | 22:40,741,628 | A/C | — | uncertain significance |
| rs2146607888 | 22:40,741,635 | T/C | — | uncertain significance |
| rs897270801 | 22:40,741,638 | T/C | — | uncertain significance |
| rs1380960379 | 22:40,741,639 | T/C | — | uncertain significance |
| rs2006965 | 22:40,741,640 | C/T | — | benign |
| rs528540026 | 22:40,741,643 | T/C | — | uncertain significance |
| rs1018230570 | 22:40,741,647 | T/C | — | uncertain significance |
| rs2518074179 | 22:40,741,655 | G/A | — | uncertain significance |
| rs2518074200 | 22:40,741,662 | T/A | — | uncertain significance |
| rs891295346 | 22:40,741,665 | C/T | — | uncertain significance |
| rs1386791712 | 22:40,741,673 | C/T | — | uncertain significance |
| rs1007438066 | 22:40,741,674 | G/T | — | uncertain significance |
| rs1018543619 | 22:40,741,680 | G/A | — | uncertain significance |
| rs2146608173 | 22:40,741,687 | T/G | — | uncertain significance |
| rs866097692 | 22:40,741,690 | A/G | — | uncertain significance |
| rs2146608187 | 22:40,741,698 | G/A | — | uncertain significance |
| rs547176744 | 22:40,741,701 | C/T | — | uncertain significance |
| rs968250682 | 22:40,741,709 | A/T | — | uncertain significance |
| rs1170425980 | 22:40,741,713 | C/A | — | uncertain significance |
| rs978423465 | 22:40,741,720 | C/T | — | uncertain significance |
| rs2518074344 | 22:40,741,727 | C/A | — | uncertain significance |
| rs2518074353 | 22:40,741,730 | G/A | — | uncertain significance |
| rs557264711 | 22:40,741,746 | T/A | — | uncertain significance |
| rs2044113487 | 22:40,741,768 | G/A | — | uncertain significance |
| rs1410879144 | 22:40,741,774 | A/G | — | uncertain significance |
| rs2146608408 | 22:40,741,809 | T/C | — | uncertain significance |
| rs9611320 | 22:40,741,821 | G/C | — | benign |
| rs2518074584 | 22:40,741,826 | G/A | — | uncertain significance |
| rs926021028 | 22:40,741,831 | C/T | — | uncertain significance |
| rs927256177 | 22:40,741,834 | G/C | — | uncertain significance |
| rs2518074684 | 22:40,741,851 | C/G | — | uncertain significance |
| rs1307229331 | 22:40,741,859 | C/G | — | uncertain significance |
| rs2518074727 | 22:40,741,860 | C/T | — | uncertain significance |
| rs941244584 | 22:40,741,864 | G/A | — | uncertain significance |
| rs146387429 | 22:40,741,877 | G/C | — | uncertain significance |
| rs2044117851 | 22:40,741,881 | G/A | — | uncertain significance |
| rs868152963 | 22:40,741,889 | C/G | — | uncertain significance |
| rs897153956 | 22:40,741,891 | C/T | — | uncertain significance |
| rs185968430 | 22:40,741,893 | C/T | — | benign |
| rs2044118645 | 22:40,741,899 | G/A | — | uncertain significance |
| rs1051195380 | 22:40,741,909 | C/T | — | uncertain significance |
| rs2518074903 | 22:40,741,914 | G/A | — | uncertain significance |
| rs2518074918 | 22:40,741,921 | A/C | — | uncertain significance |
| rs1316024893 | 22:40,741,923 | C/T | — | uncertain significance |
| rs950362458 | 22:40,741,928 | C/T | — | uncertain significance |
| rs2518074952 | 22:40,741,930 | G/A | — | uncertain significance |
| rs1197880670 | 22:40,741,931 | G/A | — | uncertain significance |
| rs1465866712 | 22:40,741,934 | C/T | — | uncertain significance |
| rs2146609004 | 22:40,741,935 | A/G | — | uncertain significance |
| rs1273326006 | 22:40,741,937 | T/C | — | uncertain significance |
| rs1428135725 | 22:40,741,938 | G/A | — | uncertain significance |
| rs2044120214 | 22:40,741,956 | G/T | — | uncertain significance |
| rs1480513913 | 22:40,741,958 | T/C | — | uncertain significance |
| rs558615182 | 22:40,741,962 | C/T | — | uncertain significance |
| rs742139 | 22:40,741,972 | C/G | — | uncertain significance |
| rs1040260159 | 22:40,741,975 | C/T | — | uncertain significance |
| rs898010972 | 22:40,741,976 | A/G | — | uncertain significance |
| rs2518075142 | 22:40,741,982 | C/G | — | uncertain significance |
| rs2518075154 | 22:40,741,986 | A/C | — | uncertain significance |
| rs1048164941 | 22:40,741,991 | C/A | — | uncertain significance |
| rs576999610 | 22:40,741,992 | G/C | — | benign |
| rs2146609240 | 22:40,741,997 | C/T | — | uncertain significance |
| rs1032678851 | 22:40,741,998 | G/C | — | uncertain significance |
Showing 100 of 699 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.