Ψ Cym - Homo sapiens

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_1YXLAO Homo sapiens LOF (frameshift, premature stop, ss) Full Yes Multiple individual SRA NR_003599.2

Statements

Type Excerpt DOI
Mutation Description "Interestingly, a cross species analysis in Hominoidea and Cercopithecoidea uncovers a conserved single mutation that spans throughout all analysed Cmy-like sequences, namely a termination codon in exon 5. " 10.1016/j.ympev.2017.08.014
Mutation Description "The analysis of the Homo sapiens CMYP (OMIM#118943) genomic region, confirmed a frameshift in exon 4 produced by a 1 bp deletion, followed by a termination codon in exon 5, and a second frameshift in exon 6 produced by a 2 bp deletion. " 10.1016/j.ympev.2017.08.014

Curator Observations

In humans Chymosin is a known Pseudogene.