Genes
MYOT Gene
Variants
Allele
P2
Type
Missense
DNA
The P2 variant of MYOT is chr14:37,818,823 A/G (EquCab3)
Reference CACATCTCCCCTTGAAGATGATCTGCTTCTGCAAA
P2 allele CACATCTCCCCTTGAAGATGGTCTGCTTCTGCAAA
Protein
The P2 variant of MYOT is S232P based on the protein model XP_005599444.2.
Note that the protein model includes the P2 allele, rather than the reference allele represented by
the genomic sequence of MYOT in EquCab3.0. Please see the P2 Allele of MYOT blog post.
Partial protein sequence (horse)
Reference QHNSEHARLQVPTSQVRSRSSSRGDVNDQDAIQEKFYPPRF
P2 allele QHNSEHARLQVPTSQVRSRSPSRGDVNDQDAIQEKFYPPRF
Disease
Summary
The P2 variant of MYOT is proposed to be associated with exercise intolerance.
This has been disputed in the literature (PubMed ID, PubMed ID), but unpublished data support the association of the P2 variant with symptoms of exercise intolerance.
Other species
Human
Missense alleles of MYOT are associated with Myofibrillar Myopathy 3 (OMIM).
Pathogenic alleles of MYOT include substitutions of serine residues in the serine-rich region of the protein.
Evolutionary conservation
Summary
The P2 missense allele replaces a serine in the serine-rich region with proline. This is a highly conserved position; proline is not seen in this position across a wide range of species.
Please see the P2 Allele of MYOT blog post
The human amino acid at this position is threonine. Serine and threonine are chemically similar, and both are potential sites of phosphorylation by serine/threonine kinases.
Protein structure
Summary
Protein structure of the equine MYOT protein is summarized at UniProt .
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Resources
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