SELENON
selenoprotein N
Summary
This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
Known Variants559 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs718391 | 1:26,125,834 | C/G | regulatory region variant | — |
| rs7524771 | 1:26,126,375 | A/G | — | benign |
| rs116470826 | 1:26,126,492 | G/A | — | likely benign |
| rs115775394 | 1:26,126,598 | A/C | — | likely benign |
| rs548911393 | 1:26,126,623 | T/G | — | likely benign |
| rs12121707 | 1:26,126,680 | T/C | — | conflicting classifications of pathogenicity |
| rs886038656 | 1:26,126,687 | T/C | — | conflicting classifications of pathogenicity |
| rs794726948 | 1:26,126,703 | G/C | — | uncertain significance |
| rs867555591 | 1:26,126,708 | C/A | — | uncertain significance |
| rs866547663 | 1:26,126,710 | C/T | — | uncertain significance |
| rs1023302860 | 1:26,126,721 | C/A | — | uncertain significance |
| rs121908184 | 1:26,126,722 | A/G | missense variant | pathogenic |
| rs1174570887 | 1:26,126,723 | T/G | — | pathogenic |
| rs982364753 | 1:26,126,725 | G/T | — | uncertain significance |
| rs866566089 | 1:26,126,728 | C/A | — | conflicting classifications of pathogenicity |
| rs1057521978 | 1:26,126,730 | G/C | — | likely benign |
| rs1371866855 | 1:26,126,731 | G/T | — | uncertain significance |
| rs794726947 | 1:26,126,735 | G/A | — | uncertain significance |
| rs1239833503 | 1:26,126,737 | C/T | — | likely benign |
| rs1572226803 | 1:26,126,739 | G/A | — | likely benign |
| rs886043768 | 1:26,126,741 | G/A | — | uncertain significance |
| rs1174797000 | 1:26,126,749 | G/C | — | uncertain significance |
| rs1391444429 | 1:26,126,751 | G/C | — | likely benign |
| rs2047848510 | 1:26,126,754 | G/A | — | likely benign |
| rs1388022028 | 1:26,126,757 | C/T | — | likely benign |
| rs2524954768 | 1:26,126,760 | C/T | — | likely benign |
| rs187960531 | 1:26,126,763 | C/T | — | benign |
| rs2047848940 | 1:26,126,772 | C/G | — | likely benign |
| rs1161818369 | 1:26,126,775 | G/T | — | likely benign |
| rs1329648911 | 1:26,126,779 | C/T | — | uncertain significance |
| rs1050852336 | 1:26,126,780 | C/T | — | conflicting classifications of pathogenicity |
| rs2047849177 | 1:26,126,786 | C/T | — | uncertain significance |
| rs1294269885 | 1:26,126,794 | C/A | — | uncertain significance |
| rs886038660 | 1:26,126,802 | C/T | — | conflicting classifications of pathogenicity |
| rs1286430947 | 1:26,126,803 | G/T | — | conflicting classifications of pathogenicity |
| rs1349760554 | 1:26,126,807 | G/A | — | uncertain significance |
| rs2524955135 | 1:26,126,815 | G/C | — | uncertain significance |
| rs1319643846 | 1:26,126,820 | G/C | — | likely benign |
| rs1473136002 | 1:26,126,823 | C/T | — | likely benign |
| rs398124359 | 1:26,126,824 | G/C | — | conflicting classifications of pathogenicity |
| rs1362571211 | 1:26,126,829 | C/T | — | likely benign |
| rs902445542 | 1:26,126,830 | C/T | — | likely benign |
| rs1251781281 | 1:26,126,844 | C/T | — | likely benign |
| rs2047850176 | 1:26,126,847 | T/A | — | likely benign |
| rs2124436757 | 1:26,126,857 | G/A | — | uncertain significance |
| rs1023254639 | 1:26,126,867 | G/A | — | uncertain significance |
| rs1405091304 | 1:26,126,873 | G/A | — | uncertain significance |
| rs2047850472 | 1:26,126,877 | C/T | — | likely benign |
| rs2047850525 | 1:26,126,881 | G/T | — | pathogenic |
| rs2047850597 | 1:26,126,885 | C/T | — | uncertain significance |
| rs1557814050 | 1:26,126,887 | C/T | — | pathogenic |
| rs1358854954 | 1:26,126,888 | A/C | — | uncertain significance |
| rs1057523110 | 1:26,126,892 | G/A | — | likely benign |
| rs970390100 | 1:26,126,897 | C/A | — | uncertain significance |
| rs2047850845 | 1:26,126,907 | C/T | — | uncertain significance |
| rs1405420770 | 1:26,126,914 | C/G | — | likely benign |
| rs1015099314 | 1:26,126,915 | G/A | — | likely benign |
| rs794726949 | 1:26,126,918 | C/G | — | uncertain significance |
| rs13373825 | 1:26,127,020 | G/A | — | benign |
| rs114881403 | 1:26,127,045 | G/T | — | likely benign |
| rs192817585 | 1:26,127,080 | G/A | — | likely benign |
| rs6676342 | 1:26,127,202 | T/G | — | benign |
| rs6676343 | 1:26,127,203 | C/T | — | benign |
| rs6659086 | 1:26,127,425 | A/G | — | benign |
| rs1227481855 | 1:26,127,516 | G/A | — | likely benign |
| rs1313051869 | 1:26,127,518 | C/G | — | likely benign |
| rs2524958004 | 1:26,127,522 | C/T | — | likely benign |
| rs2124437547 | 1:26,127,524 | T/C | — | likely benign |
| rs2124437550 | 1:26,127,528 | A/C | — | uncertain significance |
| rs1035976243 | 1:26,127,531 | C/T | — | uncertain significance |
| rs2124437555 | 1:26,127,532 | A/G | — | likely pathogenic |
| rs777994853 | 1:26,127,536 | A/G | — | likely benign |
| rs1557814336 | 1:26,127,538 | T/G | — | uncertain significance |
| rs2524958104 | 1:26,127,550 | C/A | — | uncertain significance |
| rs779935621 | 1:26,127,555 | G/C | — | uncertain significance |
| rs746738124 | 1:26,127,556 | G/A | — | uncertain significance |
| rs747665368 | 1:26,127,566 | C/G | — | likely benign |
| rs889870201 | 1:26,127,575 | C/T | — | likely benign |
| rs2124437633 | 1:26,127,577 | T/C | — | uncertain significance |
| rs765917781 | 1:26,127,596 | C/T | — | likely benign |
| rs761605974 | 1:26,127,603 | A/G | — | uncertain significance |
| rs1019702401 | 1:26,127,607 | A/G | — | uncertain significance |
| rs1442343296 | 1:26,127,620 | G/A | — | likely benign |
| rs1322590967 | 1:26,127,621 | G/A | — | uncertain significance |
| rs2047857492 | 1:26,127,623 | G/C | — | uncertain significance |
| rs756673739 | 1:26,127,626 | C/A | — | uncertain significance |
| rs757526471 | 1:26,127,646 | T/A | — | uncertain significance |
| rs398124360 | 1:26,127,652 | G/T | — | pathogenic |
| rs1486849557 | 1:26,127,656 | C/T | — | uncertain significance |
| rs1553198615 | 1:26,127,657 | A/T | — | likely benign |
| rs373189692 | 1:26,127,669 | C/T | — | likely benign |
| rs7514866 | 1:26,127,765 | G/T | — | likely benign |
| rs10902683 | 1:26,128,307 | C/T | — | benign |
| rs2124438895 | 1:26,128,489 | T/C | — | likely benign |
| rs2524960829 | 1:26,128,491 | T/G | — | likely benign |
| rs2047864816 | 1:26,128,496 | T/A | — | uncertain significance |
| rs1327559756 | 1:26,128,504 | C/G | — | uncertain significance |
| rs2524960860 | 1:26,128,506 | G/C | — | likely pathogenic |
| rs2124438957 | 1:26,128,516 | C/T | — | uncertain significance |
| rs1246205093 | 1:26,128,544 | C/T | — | likely benign |
Showing 100 of 559 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.