Genes
MYOT Gene
Summary
Symbol
MYOT
Name
Myotilin
Description
Myotilin is a muscle protein that is a component of the Z disc.
Variants
Allele
P2
Type
Missense
DNA
The P2 variant of MYOT is chr14:37,818,823 A/G (EquCab3)
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.
Disease
Summary
The P2 variant of MYOT is proposed to be associated with exercise intolerance.
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
Protein structure
Summary
Protein structure of the equine MYOT protein is summarized at UniProt .
EquiSeq is a biotech company offering
genetic testing for horses.
Resources
