Ψ CASP12 - Balaena mysticetus
Reference Gene:
Job_ID:
Curator:
GlossID | Species | Gene Loss Mechanism | Loss Type | Lineage Specific | Evidence | Accession Nr. |
---|---|---|---|---|---|---|
GL_VNHMXM | Balaena mysticetus | LOF (frameshift, premature stop, ss) | Full | No | Genomic & Transcriptomic |
Statements
Type | Excerpt | DOI |
---|---|---|
Functional | "Interestingly, while this protease is conserved and functional in almost all of the terrestrial mammals, most human populations display different deleterious variants (Fischer et al., 2002), presumably with the same functional consequences as the premature stop codons in whales." | 10.1016/j.celrep.2014.12.008 |
Mutation Description | "Thus, the cysteine protease CASP12, a modulator of the activity of inflammatory caspases, has at least one conserved premature stop codon in bowhead and minke whales (see alignments in Supplemental Data File 1)." | 10.1016/j.celrep.2014.12.008 |
Curator Observations
See supplementary material for details