POPDC1

Chr 6AR

popeye domain cAMP effector 1

Also known as: BVES, CARICK, HBVES, LGMD2X, LGMDR25, POP1

NCBI Gene: 11149 ENSG00000112276 UniProt: Q8NE79 OMIM: 604577

This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Muscular dystrophy, limb-girdle, autosomal recessive 25MIM #616812

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Muscular dystrophy, limb-girdle, autosomal recessive 25; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in POPDC1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

457 rare PASS variants

Rare truncating (LoF)

1 in 2,300

83 rare PASS variants

Rare synonymous (reference)

1 in 440

169 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for POPDC1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 130	1 in 2,500
South Asian	~43k	1 in 120	1 in 1,900
Remaining (unassigned)	~30k	1 in 110	1 in 2,300
European (Finnish)	~27k	1 in 270	1 in 1,200
Admixed American	~22k	1 in 130	1 in 2,200
African / African American	~21k	1 in 160	1 in 1,200
East Asian	~20k	1 in 200	1 in 2,200
Ashkenazi Jewish	~13k	1 in 1,100	none seen
Middle Eastern	~2,884	1 in 480	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.