DYTN
dystrotelin
Summary
This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 2019]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754242640 | 2:207,516,552 | T/C | — | uncertain significance |
| rs1311813445 | 2:207,516,562 | C/A | — | uncertain significance |
| rs2469232114 | 2:207,527,761 | C/G | — | uncertain significance |
| rs2469232253 | 2:207,527,852 | G/T | — | uncertain significance |
| rs1699532778 | 2:207,527,969 | G/A | — | uncertain significance |
| rs1699533094 | 2:207,527,983 | G/C | — | likely benign |
| rs1559305352 | 2:207,528,047 | T/C | — | likely benign |
| rs367667719 | 2:207,528,107 | G/A | — | uncertain significance |
| rs77440691 | 2:207,533,252 | C/T | intron variant | — |
| rs779791433 | 2:207,557,968 | T/G | — | uncertain significance |
| rs764196378 | 2:207,557,977 | C/T | — | uncertain significance |
| rs201166130 | 2:207,558,019 | A/G | — | uncertain significance |
| rs200782718 | 2:207,559,513 | G/C | — | uncertain significance |
| rs770233978 | 2:207,559,566 | C/A | — | uncertain significance |
| rs752538223 | 2:207,559,600 | A/G | — | uncertain significance |
| rs200422382 | 2:207,564,490 | C/T | — | uncertain significance |
| rs1484792329 | 2:207,564,507 | C/G | — | uncertain significance |
| rs116493063 | 2:207,564,546 | C/A | — | likely benign |
| rs1699957886 | 2:207,564,566 | A/G | — | uncertain significance |
| rs747303153 | 2:207,564,871 | C/T | — | uncertain significance |
| rs199745795 | 2:207,564,891 | G/A | — | uncertain significance |
| rs746823277 | 2:207,564,928 | C/T | — | uncertain significance |
| rs114675847 | 2:207,569,580 | G/C | — | uncertain significance |
| rs200720001 | 2:207,569,640 | C/T | — | likely benign |
| rs1221725800 | 2:207,570,538 | C/T | — | uncertain significance |
| rs575918931 | 2:207,570,564 | C/T | — | likely benign |
| rs375852360 | 2:207,570,581 | G/A | — | uncertain significance |
| rs1012924844 | 2:207,572,041 | G/C | — | uncertain significance |
| rs2469280211 | 2:207,572,086 | C/G | — | uncertain significance |
| rs78679916 | 2:207,572,118 | C/G | — | uncertain significance |
| rs2469293511 | 2:207,582,988 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.