MYPN

This page contains an overview of the genetic variation in the MYPN gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

MYPN gene and transcript details

Gene Name
myopalladin

Gene Links
Ensembl: ENSG00000138347 - Locus Reference Genomic: LRG_410

Genomic Location
Chromosome 10 : 69,881,196 - 69,970,212 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (3960 bases)Protein (1320 aa)
ENST00000358913 ENSP00000351790
LRG_410t1LRG_410p1
NM_032578.2
Q86TC9

Summary of MYPN in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of MYPN in HCM (see study in the European Heart Journal), it is classified as:
Functional data only (no genetic evidence).


MYPN variants in ExAC

Details of the protein-altering MYPN variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants5230.00760
Truncating160.00017
Missense4720.00698
Inframe20.00002
Splice Site330.00043

Rare variants are defined as having a mean allelic frequency of less than 0.0001.