SORD
sorbitol dehydrogenase
Summary
Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]
Known Variants87 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754866607 | 15:45,315,524 | C/T | — | uncertain significance |
| rs143621304 | 15:45,315,531 | C/T | — | uncertain significance |
| rs765616136 | 15:45,315,542 | C/A | — | uncertain significance |
| rs2600895 | 15:45,319,959 | A/G | — | — |
| rs113000093 | 15:45,320,493 | G/C | — | — |
| rs1251797198 | 15:45,335,277 | T/C | — | benign |
| rs2504680811 | 15:45,335,471 | G/A | — | uncertain significance |
| rs770030139 | 15:45,335,484 | A/G | — | uncertain significance |
| rs1188536960 | 15:45,335,503 | A/G | — | uncertain significance |
| rs560288236 | 15:45,335,536 | T/C | — | conflicting classifications of pathogenicity |
| rs752052119 | 15:45,335,573 | G/A | — | likely benign |
| rs377697486 | 15:45,338,331 | G/C | — | — |
| rs2437866 | 15:45,344,221 | T/G | — | — |
| rs71480278 | 15:45,353,065 | G/A | — | benign |
| rs2854446 | 15:45,353,230 | T/C | — | benign |
| rs754260257 | 15:45,353,273 | G/C | — | uncertain significance |
| rs780258473 | 15:45,353,286 | C/T | — | uncertain significance |
| rs535669510 | 15:45,353,297 | C/T | — | pathogenic |
| rs745509632 | 15:45,353,327 | C/T | — | conflicting classifications of pathogenicity |
| rs776946050 | 15:45,353,358 | G/A | — | uncertain significance |
| rs2504702178 | 15:45,353,360 | G/C | — | likely pathogenic |
| rs151103932 | 15:45,353,371 | C/T | — | likely benign |
| rs777767558 | 15:45,353,377 | C/T | — | likely benign |
| rs377357498 | 15:45,353,413 | C/G | — | likely benign |
| rs28709644 | 15:45,357,409 | A/T | — | benign |
| rs2854437 | 15:45,357,410 | G/T | — | benign |
| rs144008908 | 15:45,357,448 | G/A | — | benign |
| rs1189951542 | 15:45,357,478 | C/G | — | uncertain significance |
| rs145813597 | 15:45,357,501 | C/A | — | pathogenic |
| rs2504709086 | 15:45,357,510 | A/G | — | uncertain significance |
| rs1438253227 | 15:45,357,525 | G/A | — | uncertain significance |
| rs2229656 | 15:45,357,547 | C/T | — | benign |
| rs369105674 | 15:45,357,548 | G/A | — | uncertain significance |
| rs1417152218 | 15:45,360,384 | A/G | — | uncertain significance |
| rs753424622 | 15:45,360,387 | G/A | — | conflicting classifications of pathogenicity |
| rs2141126317 | 15:45,360,389 | G/A | — | likely benign |
| rs564779557 | 15:45,360,404 | C/T | — | likely benign |
| rs780364484 | 15:45,360,405 | G/A | — | uncertain significance |
| rs781332911 | 15:45,360,413 | A/G | — | likely benign |
| rs2019651 | 15:45,360,587 | G/T | — | benign |
| rs77117002 | 15:45,360,648 | T/A | — | — |
| rs76647534 | 15:45,360,983 | A/G | — | benign |
| rs28662287 | 15:45,361,011 | T/C | — | benign |
| rs146065102 | 15:45,361,118 | T/C | — | likely benign |
| rs144635546 | 15:45,361,160 | C/T | — | likely benign |
| rs374020622 | 15:45,361,163 | C/G | — | likely benign |
| rs1042079 | 15:45,361,180 | A/T | — | benign |
| rs765674420 | 15:45,361,195 | C/T | — | pathogenic |
| rs747847507 | 15:45,361,216 | C/T | — | uncertain significance |
| rs371831398 | 15:45,361,219 | G/T | — | uncertain significance |
| rs746985755 | 15:45,361,240 | C/T | — | pathogenic |
| rs55713047 | 15:45,361,241 | G/A | — | benign |
| rs748914286 | 15:45,361,255 | G/A | — | uncertain significance |
| rs55881086 | 15:45,361,285 | A/G | — | benign |
| rs59960144 | 15:45,361,379 | A/C | — | benign |
| rs57880432 | 15:45,361,402 | T/C | — | benign |
| rs772171592 | 15:45,361,405 | T/C | — | benign |
| rs2689317 | 15:45,364,031 | T/G | — | — |
| rs201997361 | 15:45,364,317 | C/T | — | benign |
| rs2504718405 | 15:45,364,512 | C/G | — | uncertain significance |
| rs930337 | 15:45,364,534 | A/C | — | benign |
| rs776122314 | 15:45,364,572 | G/A | — | likely benign |
| rs2504718500 | 15:45,364,579 | T/C | — | pathogenic |
| rs769106515 | 15:45,364,585 | A/G | — | uncertain significance |
| rs1267443415 | 15:45,364,623 | C/T | — | pathogenic |
| rs28495265 | 15:45,364,647 | C/T | — | benign |
| rs71480280 | 15:45,364,769 | G/A | — | benign |
| rs568498954 | 15:45,365,375 | C/G | — | benign |
| rs201398152 | 15:45,365,589 | C/T | — | uncertain significance |
| rs375048750 | 15:45,365,590 | G/A | — | likely benign |
| rs201113773 | 15:45,365,605 | T/C | — | benign |
| rs1417163285 | 15:45,365,609 | A/C | — | uncertain significance |
| rs1893545097 | 15:45,365,610 | A/C | — | uncertain significance |
| rs149975952 | 15:45,365,618 | G/T | — | benign |
| rs149213846 | 15:45,365,638 | G/A | — | benign |
| rs2504719876 | 15:45,365,652 | A/G | — | uncertain significance |
| rs750210485 | 15:45,365,675 | G/T | — | conflicting classifications of pathogenicity |
| rs142417981 | 15:45,365,683 | G/A | — | benign |
| rs147928721 | 15:45,365,696 | C/A | — | benign |
| rs774495383 | 15:45,365,707 | C/T | — | likely benign |
| rs926291602 | 15:45,365,720 | A/T | — | uncertain significance |
| rs2412946 | 15:45,365,724 | C/T | — | benign |
| rs140027593 | 15:45,365,730 | G/A | — | benign |
| rs1042097 | 15:45,365,762 | T/C | — | benign |
| rs143548681 | 15:45,365,783 | C/A | — | benign |
| rs1042112 | 15:45,365,790 | T/C | — | benign |
| rs139397987 | 15:45,365,792 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.