AMOT
angiomotin
Summary
This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768392343 | X:112,021,858 | T/G | — | uncertain significance |
| rs772654717 | X:112,021,878 | G/A | — | uncertain significance |
| rs1015065140 | X:112,021,890 | C/G | — | uncertain significance |
| rs138992506 | X:112,022,287 | G/A | — | benign |
| rs2521506026 | X:112,022,315 | C/G | — | uncertain significance |
| rs773385598 | X:112,022,318 | C/G | — | likely benign |
| rs764543196 | X:112,022,359 | G/A | — | likely benign |
| rs148609725 | X:112,022,425 | G/A | — | conflicting classifications of pathogenicity |
| rs200123694 | X:112,022,436 | C/T | — | benign |
| rs200613321 | X:112,022,498 | A/C | — | likely benign |
| rs760467274 | X:112,022,631 | A/G | — | likely benign |
| rs200107563 | X:112,022,644 | A/G | — | likely benign |
| rs147791527 | X:112,022,687 | T/C | — | benign |
| rs139684218 | X:112,022,699 | C/T | — | likely benign |
| rs140857846 | X:112,022,881 | G/T | — | conflicting classifications of pathogenicity |
| rs145727995 | X:112,022,894 | C/T | — | uncertain significance |
| rs759471559 | X:112,022,903 | G/A | — | uncertain significance |
| rs145715476 | X:112,024,209 | T/C | — | uncertain significance |
| rs769380289 | X:112,024,239 | C/T | — | uncertain significance |
| rs149909515 | X:112,024,247 | C/T | — | benign |
| rs757833562 | X:112,024,248 | G/A | — | uncertain significance |
| rs763760828 | X:112,024,249 | A/T | — | uncertain significance |
| rs754438267 | X:112,033,830 | C/T | — | uncertain significance |
| rs869312862 | X:112,035,060 | C/G | missense variant | pathogenic |
| rs756257626 | X:112,035,202 | T/C | — | uncertain significance |
| rs777872415 | X:112,048,273 | T/A | — | uncertain significance |
| rs57201849 | X:112,053,138 | C/T | — | benign |
| rs1396410880 | X:112,053,151 | C/T | — | uncertain significance |
| rs2521644750 | X:112,054,483 | G/T | — | uncertain significance |
| rs1556222184 | X:112,054,489 | T/C | — | uncertain significance |
| rs776589824 | X:112,054,509 | C/T | — | uncertain significance |
| rs145617375 | X:112,054,576 | C/G | — | uncertain significance |
| rs41300179 | X:112,054,600 | C/G | — | uncertain significance |
| rs147756573 | X:112,054,613 | T/C | — | benign |
| rs200348859 | X:112,058,599 | G/C | — | uncertain significance |
| rs964738689 | X:112,058,644 | T/C | — | uncertain significance |
| rs149397566 | X:112,058,649 | G/A | — | likely benign |
| rs143829571 | X:112,058,651 | C/T | — | uncertain significance |
| rs768761923 | X:112,058,683 | G/C | — | uncertain significance |
| rs377126903 | X:112,058,750 | T/C | — | uncertain significance |
| rs776111928 | X:112,058,866 | T/A | — | uncertain significance |
| rs370543375 | X:112,058,875 | C/T | — | likely benign |
| rs773718947 | X:112,058,894 | G/A | — | uncertain significance |
| rs1007462799 | X:112,059,017 | G/A | — | uncertain significance |
| rs143986904 | X:112,059,030 | A/G | — | benign |
| rs2521666535 | X:112,059,031 | G/A | — | uncertain significance |
| rs1197155784 | X:112,065,567 | T/C | — | uncertain significance |
| rs1934740700 | X:112,065,636 | G/T | — | uncertain significance |
| rs752825045 | X:112,065,661 | C/T | — | uncertain significance |
| rs2521691503 | X:112,065,897 | T/C | — | uncertain significance |
| rs1934747546 | X:112,065,960 | T/C | — | uncertain significance |
| rs1237988607 | X:112,066,066 | A/G | — | uncertain significance |
| rs2521692964 | X:112,066,156 | G/C | — | uncertain significance |
| rs2521693326 | X:112,066,207 | T/A | — | uncertain significance |
| rs1031444180 | X:112,066,239 | T/A | — | uncertain significance |
| rs946043007 | X:112,066,285 | G/A | — | uncertain significance |
| rs762039551 | X:112,066,317 | G/A | — | uncertain significance |
| rs2521694017 | X:112,066,335 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.