5_prime_UTR_premature_start_codon_variant [SO_0001983]
A 5’ UTR variant where a premature start codon is introduced, moved or lost.
5_prime_UTR_premature_start_codon_variant
ID: SO_0001983
Class
A 5' UTR variant where a premature start codon is introduced, moved or lost.
Requested by Andy Menzies at the Sanger. This isn't necessarily a protein coding change. A premature start codon can effect the production of a mature protein product by providing a competing translation start point. Some genes balance their expression this way, eg THPO requires the presence of a premature start to limit expression, its loss leads to Familial thrombocythemia.
Open in VFB 3D Browser →Classification
Alternative Names
| Synonym | Scope | Reference |
|---|---|---|
| 5’ UTR premature start codon variant | exact synonym |
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