PLN

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

PLN gene and transcript details

Gene Name
phospholamban

Gene Links
Ensembl: ENSG00000198523 - Locus Reference Genomic: LRG_390

Genomic Location
Chromosome 6 : 118,880,085 - 118,880,243 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (156 bases)	Protein (52 aa)
	ENST00000357525	ENSP00000350132
	LRG_390t1	LRG_390p1
	NM_002667.3
		P26678

Summary of PLN in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of PLN in HCM (see study in the European Heart Journal), it is classified as: Strong Evidence.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00365	0.00048	0.32%
Truncating	0.00091	0.00006	0.09%
Non-Truncating	0.00274	0.00042	0.23%

Based on an analysis of rare variants (MAF<0.0001) in PLN detected in a cohort of 1095 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

PLN variants in ExAC

Details of the protein-altering PLN 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	17	0.00024
Truncating	3	0.00003
Missense	14	0.00021
Inframe	0	0.00000
Splice Site	0	0.00000

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