LDB3

This page contains an overview of the genetic variation in the LDB3 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:

LDB3 gene and transcript details

Gene Name
LIM domain binding 3

Gene Links
Ensembl: ENSG00000122367 - Locus Reference Genomic: LRG_385

Genomic Location
Chromosome 10 : 88,428,449 - 88,492,733 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (2181 bases)	Protein (727 aa)
	ENST00000361373	ENSP00000355296
	LRG_385t1	LRG_385p1
	NM_007078.2
		O75112

Summary of LDB3 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.01892	0.01122	0.77%
Truncating	0.00000	0.00048	-0.05%
Non-Truncating	0.01892	0.01074	0.82%

Based on an analysis of rare variants (MAF<0.0001) in LDB3 detected in a cohort of 740 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of LDB3 in HCM (see study in the European Heart Journal), it is classified as:
Functional data only (no genetic evidence).

LDB3 variants in ExAC

Details of the protein-altering LDB3 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	332	0.00586
Truncating	17	0.00024
Missense	291	0.00529
Inframe	5	0.00008
Splice Site	19	0.00025

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