Ψ CORT - Pontoporia blainvillei
Reference Gene:
Job_ID:
Curator:
| GlossID | Species | Gene Loss Mechanism | Loss Type | Lineage Specific | Evidence | Accession Nr. |
|---|---|---|---|---|---|---|
| GL_YZTEAW | Pontoporia blainvillei | LOF (frameshift, premature stop, ss) | Undetermined | No | Genomic |
Statements
| Type | Excerpt | DOI |
|---|---|---|
| Mutation Description | "Among these, L. vexillifer showed a premature stop codon in exon 2, P. gangetica presented frameshift mutations in both exons (a 31-nucleotide deletion in exon 1 and a 4-nucleotide insertion in exon 2) and I. geoffrensis displayed an indel in exon 2 (Supplementary File 4)." | 10.1016/j.ygeno.2020.11.002 |
| Mutation Description | "Regarding P. blainvillei, on the other hand, no ORF disrupting mutations were found. Yet, further sequence analysis revealed amino acid changes that possibly impair canonical peptide function (Supplementary File 7). CORT, similarly to SST, contains a carboxyl-terminal FWKT (Phe-Trp-Lys-Thr) tetramer, essential for binding to SST receptors [20,21]. Despite its strict conservation across mammals, amino acid substitutions are observed in P. blainvillei, thus suggesting that, in this species, SST receptor binding is possibly impaired (Supplementary File 7)." | 10.1016/j.ygeno.2020.11.002 |
Curator Observations
Although authors did not find any LOF mutations they found animo acid replacements involving residues involved in receptor binding. Thus protein function remains undetermined. Authors manually annotated this gene.