DES

This page contains an overview of the genetic variation in the DES 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:

DES gene and transcript details

Gene Name
desmin

Gene Links
Ensembl: ENSG00000175084 - Locus Reference Genomic: LRG_380

Genomic Location
Chromosome 2 : 220,283,185 - 220,290,712 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (1410 bases)	Protein (470 aa)
	ENST00000373960	ENSP00000363071
	LRG_380t1	LRG_380p1
	NM_001927.3
		P17661

Summary of DES in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00895	0.00472	0.42%
Truncating	0.00224	0.00036	0.19%
Non-Truncating	0.00671	0.00436	0.24%

Based on an analysis of rare variants (MAF<0.0001) in DES detected in a cohort of 894 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy - explore in detail

VarType	ARVC Freq	ExAC Freq	Case Excess
All	0.03226	0.00472	2.75%
Truncating	0.00000	0.00036	-0.04%
Non-Truncating	0.03226	0.00436	2.79%

Based on an analysis of rare variants (MAF<0.0001) in DES detected in a cohort of 93 ARVC patients sequenced at OMGL clinical laboratories, compared to ExAC controls.

DES variants in ExAC

Details of the protein-altering DES 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 Variants	Combined frequency of rare variants
All Variants	160	0.00293
Truncating	8	0.00018
Missense	136	0.00218
Inframe	0	0.00000
Splice Site	16	0.00052

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