POLGARF

protein-coding

POLG alternative reading frame

Gene summary

This gene uses the same transcript as the POLG gene but has a CUG start codon and an alternate reading frame that makes a 260 aa protein. This protein is distinct from POLG isoforms and may interact with P32 (also known as C1QBP), a mitochondrial matrix protein thought to be involved in the expression of mitochondrial genome-encoded proteins. POLGARF protein may bind P32 and sequester it in the nucleolus. Interestingly, some disease-causing mutations thought to be in POLG may instead be associated with POLGARF. [provided by RefSeq, May 2022]

MANE transcript

NM_001430120.1

Inheritance

—

ClinVar variants

P:86U:306B:184

Top phenotype

Progressive sclerosing poliodystrophy

Max pathogenic AF

—

Genomic locus

chr15:89,330,208-89,333,809

External References & Databases

Ensembl (ENSG00000291307)

NCBI Gene (125316803)

Transcript & Mutation Effects

hg38 • Region Span ~3.6 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to POLGARF variants in ClinVar

25 Conditions Cataloged

Progressive sclerosing poliodystrophyTotal: 567

not providedTotal: 215

POLG-related disorderTotal: 135

Inborn genetic diseasesTotal: 76

not specifiedTotal: 76

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1Total: 31

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisTotal: 30

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1Total: 30

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001430120.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous	3 clinvar	5 clinvar	126 clinvar	17 clinvar		151
missense	12 clinvar	15 clinvar	179 clinvar	161 clinvar	1 clinvar	368
nonsense				5 clinvar		5
start loss						0
frameshift	38 clinvar	10 clinvar	1 clinvar			49
splice donor/acceptor (+/-2bp)		3 clinvar				3
Total	53	33	306	183	1	576

Highest pathogenic variant AF is 0.00003335484

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001430120.1	RefSeq	NP_001417049.1	2	MANE Select
ENST00000706918.1	Ensembl	ENSP00000516626.1	2	MANE Select