PDLIM3

This page contains an overview of the genetic variation in the PDLIM3 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:

PDLIM3 gene and transcript details

Gene Name
PDZ and LIM domain 3

Gene Links
Ensembl: ENSG00000154553 - Locus Reference Genomic:

Genomic Location
Chromosome 4 : 186,423,448 - 186,456,588 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (1092 bases)Protein (364 aa)
ENST00000284770 ENSP00000284770
NM_014476.4
Q53GG5

Summary of PDLIM3 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of PDLIM3 in HCM (see study in the European Heart Journal), it is classified as:
No Evidence.


PDLIM3 variants in ExAC

Details of the protein-altering PDLIM3 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 Variants1800.00277
Truncating180.00018
Missense1490.00232
Inframe20.00003
Splice Site110.00024

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