AASDH
aminoadipate-semialdehyde dehydrogenase
Summary
This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1747132988 | 4:57,204,605 | A/G | — | uncertain significance |
| rs761887807 | 4:57,204,642 | C/G | — | uncertain significance |
| rs562650137 | 4:57,204,675 | G/A | — | uncertain significance |
| rs752014185 | 4:57,204,712 | T/G | — | uncertain significance |
| rs757790682 | 4:57,204,713 | T/G | — | uncertain significance |
| rs759661237 | 4:57,204,759 | T/C | — | uncertain significance |
| rs763186780 | 4:57,204,773 | T/C | — | uncertain significance |
| rs748897192 | 4:57,204,794 | G/A | — | uncertain significance |
| rs750385588 | 4:57,204,827 | T/C | — | uncertain significance |
| rs1057149806 | 4:57,204,926 | A/G | — | uncertain significance |
| rs2545499569 | 4:57,209,044 | C/G | — | uncertain significance |
| rs2545499634 | 4:57,209,057 | T/C | — | likely benign |
| rs1747876173 | 4:57,209,081 | A/G | — | uncertain significance |
| rs200834278 | 4:57,209,093 | G/C | — | uncertain significance |
| rs1747968732 | 4:57,209,799 | G/A | — | uncertain significance |
| rs375089705 | 4:57,211,304 | A/C | — | uncertain significance |
| rs376136482 | 4:57,211,313 | C/T | — | uncertain significance |
| rs755354936 | 4:57,211,333 | A/G | — | uncertain significance |
| rs145426102 | 4:57,213,218 | A/C | intron variant | — |
| rs201914036 | 4:57,215,567 | T/C | — | uncertain significance |
| rs1286557737 | 4:57,215,658 | C/T | — | uncertain significance |
| rs1442526678 | 4:57,215,675 | T/A | — | uncertain significance |
| rs369346716 | 4:57,215,708 | C/T | — | uncertain significance |
| rs139842225 | 4:57,215,716 | G/A | — | uncertain significance |
| rs2545520308 | 4:57,215,733 | A/C | — | uncertain significance |
| rs752422032 | 4:57,215,741 | C/A | — | uncertain significance |
| rs746867910 | 4:57,215,910 | G/C | — | likely benign |
| rs1406918908 | 4:57,215,956 | T/G | — | uncertain significance |
| rs2545522139 | 4:57,216,098 | C/G | — | uncertain significance |
| rs780481855 | 4:57,216,175 | A/C | — | uncertain significance |
| rs751706495 | 4:57,217,564 | C/G | — | uncertain significance |
| rs781053675 | 4:57,219,603 | C/T | — | uncertain significance |
| rs557389945 | 4:57,219,657 | T/C | — | uncertain significance |
| rs369033481 | 4:57,219,741 | C/T | — | uncertain significance |
| rs150873866 | 4:57,220,347 | T/C | — | uncertain significance |
| rs1749393564 | 4:57,220,891 | C/T | — | uncertain significance |
| rs139646993 | 4:57,220,907 | A/G | — | uncertain significance |
| rs144290821 | 4:57,220,977 | T/A | — | uncertain significance |
| rs2545540698 | 4:57,221,355 | T/G | — | uncertain significance |
| rs2545541266 | 4:57,221,433 | T/G | — | uncertain significance |
| rs376025750 | 4:57,221,478 | A/G | — | likely benign |
| rs768281923 | 4:57,221,488 | C/T | — | likely benign |
| rs1291344126 | 4:57,237,643 | A/C | — | uncertain significance |
| rs2545594406 | 4:57,237,706 | A/T | — | uncertain significance |
| rs138678774 | 4:57,237,713 | A/C | — | uncertain significance |
| rs73240543 | 4:57,244,314 | C/A | — | likely benign |
| rs139654016 | 4:57,244,374 | C/T | — | uncertain significance |
| rs140034998 | 4:57,244,414 | G/C | — | uncertain significance |
| rs771642907 | 4:57,244,523 | C/A | — | uncertain significance |
| rs1472277092 | 4:57,244,558 | A/G | — | uncertain significance |
| rs563678329 | 4:57,244,596 | T/C | — | uncertain significance |
| rs1198341119 | 4:57,244,614 | T/C | — | uncertain significance |
| rs147980727 | 4:57,248,659 | T/C | — | uncertain significance |
| rs145859029 | 4:57,248,714 | G/A | — | uncertain significance |
| rs149373863 | 4:57,250,248 | G/T | — | uncertain significance |
| rs34543011 | 4:57,250,285 | T/C | — | benign |
| rs773556845 | 4:57,250,416 | C/T | — | likely benign |
| rs543324027 | 4:57,250,431 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.