Ψ GBA3 - Homo sapiens
Reference Gene:
Job_ID:
Curator:
| GlossID | Species | Gene Loss Mechanism | Loss Type | Lineage Specific | Evidence | Accession Nr. |
|---|---|---|---|---|---|---|
| GL_ZAGWNV | Homo sapiens | LOF (frameshift, premature stop, ss) | Polymorphic | No | Genomic | NM_020973.5 |
Statements
| Type | Excerpt | DOI |
|---|---|---|
| Mutation Description | "Conversely, the pseudogenized allele results from a T > A substitution at c.1368 position (rs358231), which creates a premature stop codon (p.Y456X) and consequently a non-functional enzyme due to the lack of the terminal α-helix." | 10.1038/s41598-020-68106-y |
Curator Observations
Polymorphic pseudogene in humans due to the presence of a truncation allele rs358231 which creates a premature stop codon (p.Y456X).